Neurology Osmosis HY Pathology Notes ATF

NEUROLOGY
High-Yield
Notes
by
AfraTafreeh.com
PATHOLOGY
NEUROLOGY
High-Yield
Notes
by
AfraTafreeh.com
PATHOLOGY
NOTES
NOTES
• • AUTONOMIC DISEASES
GENERALLY,WHAT ARE THEY?
( PATHOLOGY & CAUSES ) ( D_IA_GN_O_SI_S __ )
• Autonomic nervous system (ANS) disorders DIAGNOSTIC IMAGING
(dysautonomia) • See individual diseases
• Normative autonomic function
O Balanced impulses of sympathetic, LAB RESULTS
parasympathetic ANS
• Nerve biopsy
O One/both components fail - symptoms O Neuropathy detection
• Etiology
O Genetic, environmental factors
OTHER DIAGNOSTICS
• Autonomic function test battery
CAUSES O Monitor heart rate, autonomic functions
• Primary for pathological changes
O Pure autonomic failure, familial • Valsalva maneuver
dysautonomia, multiple system atrophy, O j intraspinal pressure - neuropathic
postural orthostatic tachycardia
symptom exacerbation
syndrome (POTS)
• Quantitative sudomotor axon reflex test
• Secondary (neuropathy)
(QSART) test
O Alcoholism, diabetes mellitus, trauma, O Electrical current - sweat gland
HIV infection, multiple sclerosis, Lyme
stimulation
disease, Parkinson's disease, porphyria,
nerve compression (tumor), drug toxicity • Tilt table test
(vincristine) O Individual lies on table - table tilted
upright - detects sudden blood
pressure change
( SIGNS & SYMPTOMS )
• Breadth of autonomic function - wide ( T_R_E~_~_M_EN_T__ )
symptomatic variation
• Common autonomic disease symptoms • Treat underlying cause if possible
O l ! heart/respiration rate • Mostly symptomatic treatment
O H blood pressure
O Bowel/bladder/erectile dysfunction
O Hypohidrosis/hyperhidrosis
O Syncope
1
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HORNER'S SYNDROME
osms.i"l/horners-s14 nd Tome
( PATHOLOGY & CAUSES ) (__ SI_G_NS_&_S_Y_M_PT_O_M_

)
• AKA oculosympathetic paresis • Classic triad: ptosis, anhydrosis, miosis
• Clinical syndrome • May present with anhidrosis (if 2nd
O Damaged sympathetic neural pathways order neurons affected), flushing
to eye, associated structures (impaired vasoconstriction), apparent
• Sympathetic innervation to eye enophthalmos (ptosis)
O Three neurons comprise pathway
0 1st order neurons: in posterolateral MNEMONIC: PAM
hypothalamus, preganglionic fibers
Signs & symptoms of
0 2nd order neurons: in ciliospinal center Horner's syndrome
(Budge's center) in intermediolateral
Ptosis
segment of spinal column (C8-T2) -
preganglionic fibers travel to superior Anhidrosis
cervical ganglion (SCG) - synapse with Miosis
3rd order neurons
0 3rd order neurons: in SCG,
postganglionic fibers follow different
paths upon leaving SCG - flushing,
absent sweating not mandatory signs
• Manifests ipsilaterally
CAUSES
• Condition manifests following pathway
interruption
• Congenital/acquired
°Congenital: may present with
heterochromia iridis as eye pigmentation
under sympathetic innervation during
development Figure 62.1 An individual with Homer's
syndrome demonstrating ptosis and miosis of
• Classification based on lesion's level
the left eye.
0 1st order neuron lesion: Arnold-Chiari
malformation, cerebrovascular insult,
basal skull tumor
0 2nd order neuron lesion: trauma, ( D_IA_GN_O_SI_S )
cervical rib, Pancoast tumor,
neuroblastoma, aorta dissection DIAGNOSTIC IMAGING
0 3rd order neuron lesion: herpes zoster,
internal carotid artery dissection, cluster X-ray
headache • Detects Pancoast tumor, shoulder trauma
MRI
• Detects aneurysm, dissection
2
LAS RESULTS O Apraclonidine: upregulation of a 1
• Vanillylmandelic acid (VMA) level receptors (t apraclonidine sensitivity) -
O Detects neuroblastoma mydriasis occurs
O Hydroxyamphetamine: 1st or 2nd order
neuron lesion - mydriasis occurs
OTHER DIAGNOSTICS (postganglionic fibers undamaged); 3rd
• Neurological exam order neuron lesion - weaker/absent
• Pharmacological diagnostics mydriasis in affected eye
O Disorder detection, lesion level
determination
° Cocaine drops: norepinephrine missing (.....___ T_R_EA_~_M_EN_T )
from synaptic cleft - absent mydriasis
• Treat the underlying cause if possible
ORTHOSTATIC HYPOTENSION (OH)

osms.i"l/or-lhos-lo.-lie-h14po-lension
( PATHOLOGY & CAUSES ) (__ s,_G_NS_&_S_Y_M_PT_O_M_s_)

• Sudden, sustained systolic blood pressure • Pale skin, vertigo, blurred vision, nausea,
(> 20mmHg)/diastolic blood pressure (> heart palpitations
lOmmHg) drop within three minutes upon
standing/ tilting head upriqht z 60°
• Delayed/lowered lower-body ( D_IA_GN_o_s,_s __ )
vasoconstriction
• Lower-body blood accumulation LAS RESULTS
while seated/supine - lower-body • Measure blood pressure
vasoconstriction delayed upon standing - ° Confirm sudden drop
! cardiac output - ! cerebral perfusion -
dizziness. blurred vision, syncope
OTHER DIAGNOSTICS
• Tilt table test
CAUSES O Provokes OH episode
• Neuropathy impairs vasoconstriction
• Baroreceptor reflex impairment (al
blockers inhibit vasoconstriction) ( T_R_EA_~_M_EN_T__ )
• Hypovolemia (absolute/relative);
atherosclerosis; diabetes mellitus; MEDICATION
Addison's disease; Parkinson's disease; • Corticosteroids
anorexia nervosa; alcohol, THC intoxication; • Antihypotensives
medication (MAOI)
• Supplemental measures (caffeine)
• Occurs in elderly/postpartum individuals
OTHER INTERVENTIONS
COMPLICATIONS • Increase blood pressure via increased fluid/
• Postural orthostatic tachycardia syndrome salt intake
(compensatory mechanism for chronic !
• Treating underlying cause
cardiac output). syncope, injury (falling)
3
NOTES
NOTES
• • BALANCE DISORDERS
GENERALLY, WHAT ARE THEY?
( PATHOLOGY & CAUSES ) ( D_IA_GN_O_SI_S
__ )
• Disorders of inner ear (vestibular portion) DIAGNOSTIC IMAGING
- disequilibrium (balance loss) • CT scan, MRI
CAUSES OTHER DIAGNOSTICS

• Inner ear infections, injuries; genetic • Audiometric test
disorders, others • Neurologic examination
• Clinical manifestation
C__s,_G_Ns_&_sv_M_PT_O_M_s_)
• Vertigo C T_R_E~_~_M_EN_T
__ )
O Spinning sensation of oneself/
surroundings MEDICATIONS
• Hearing loss, tinnitus • Antibiotics (causitive)
• Antihistamines, antiemetics,
anticholinergics (symptomatic)
SURGERY
• Causative treatment
OTHER INTERVENTIONS
• Vestibular rehabilitation therapy
4
LABYRINTHITIS
osms.i"l/lo.\,14Tin-1:hi-lis
( PATHOLOGY & CAUSES ) (..____ D_IA_GN_O_s,_s

__ )
• Inner ear (labyrinth) inflation OTHER DIAGNOSTICS
• Damage of auditory, vestibular-end organs • Head, neck examination
responsible for hearing, retaining balance • Nystagmus
(rotational, linear-motion sensation) • Neurologic examination
• Positive Romberg's test: inability to
CAUSES maintain postural control
• Viral infection (rubella virus, • Abnormal tandem gait: inability to walk
cytomegalovirus, mumps virus) in straight line with one foot in front of
• Bacterial infection other (heel-to-toe)
O Streptococcus pneumoniae, • Head impulse, Nystagmus, and Test of
Haemophilus influenzae, Neisseria skew (HiNTs) examination
meningitidis; most commonly meningitis/ • Positive head-thrust test: inability to
otitis media complication maintain visual fixation when head
• Head injury, stress, allergy, medication turned rapidly toward side of lesion by
examiner
O Negative test of skew
RISI( FACTORS
• Direction-changing nystagmus
• Upper respiratory tract infection
COMPLICATIONS ( T_R_EA_~_M_EN_T
)
• Permanent hearing loss
MEDICATIONS
• Inflammation
(__ SI_G_NS_&_S_Y_M_PT_O_M_s
) Corticosteroids °
• Bacterial infection
• Severe vertigo (oneself/surroundings seem O Antibiotics
spinning), associated symptoms
• Symptomatic treatment
• Fatigue, nausea, vomiting
Antihistamines,
O antiemetics,
• Rotational motion signalization impairment
anticholinergics
- nystagmus
• Tinnitus, hearing loss
• Gait impairment
OTHER INTERVENTIONS
• Self-limiting
O Recovery in 1-6 weeks
O Head, eye movement, postural change,
walking exercise
5
MENIERE'S DISEASE
osms.it/ menieTes-diseo.se
( PATHOLOGY & CAUSES ) ( D_IA_GN_o_s,_s__ )

• Idiopathic inner-ear disorder OTHER DIAGNOSTICS
O Vertigo, progressive hearing loss • Diagnostic criteria
, Two/more unprovoked vertigo episodes
CAUSES (each last> 20 minutes)
• Exact cause unknown n Audiometrically-confirmed sensorineural

hearing loss in affected ear on at least
O Likely abnormal fluid, ion homeostasis in
one occasion before/during/after vertigo
inner ear (endolymphatic hydrops)
episode
• Possibly due to endolymphatic sad
n Tinnitus/fullness feeling in ear
duct blockage, viral infection, vestibular
aqueduct hypoplasia, vascular constriction
(....___ T_R_E~_iT_M_EN_T__ )
RISI( FACTORS
• Children MEDICATIONS
° Congenital inner-ear malformations • Symptomatic treatment
• Family history (10% familial) , Antihistamines, antiemetics,
anticholinergics
(__ SI_G_NS_&_SY_M_PT_O_M_s_)
SURGERY
• Symptoms do not improve
• Spontaneous vertigo episodes (last 20
, Surgical decompression of
minutes-24 hours). associated symptoms
endolymphatic sac
(fatigue. nausea, vomiting); tinnitus,
progressive hearing loss
• Less common OTHER INTERVENTIONS
O Drop attack (sudden fall with preserved • Sodium restriction, diuretics may alleviate
consciousness) symptoms (unknown efficacy)
6
SCHWANNOMA
osmsJI:/ sehwo.nnomo.
OTHER DIAGNOSTICS
( PATHOLOGY & CAUSES ) • Neurologic examination
= Cranial nerve deficit
• Benign nerve-sheath Schwann cell tumor
• Involves any peripheral nerve • Audiometry
= Confirms sensorineural hearing loss
O Most commonly affects head, neck
nerves; vestibular nerve (vestibular
schwannoma)
• Associated with neurofibromatosis type II
( T_R_EA_~_M_EN_T
__ )
(presents with bilateral schwannomas)
SURGERY
° Caused by loss-of-function mutation
• Excision
in neurofibromin 2 (NF2) gene that
encodes tumor-suppressor protein
merlin (schwannomin) OTHER INTERVENTIONS
• Radiation therapy
RISk FACTORS , Stereotactic radiosurgery, stereotactic
• Childhood radiation treatment radiotherapy, proton beam therapy
COMPLICATIONS
• Very rarely become malignant
(neurofibrosarcoma degeneration)
• Left untreated
O Brainstem compression, cerebellar tonsil
herniation, hydrocephalus
(__ SI_G_NS_&_S_Y_M_PT_O_M_s_)
• Cochlear nerve involvement----> hearing Figure 63.1 The histological appearance of a
loss, tinnitus Schwannoma demonstrating characteristic
• Vestibular nerve involvement----> walking Antoni A and Antoni B areas.
disequilibrium
• Trigeminal nerve involvement----> facial
paresthesia, hypoesthesia, pain
• Facial nerve involvement----> facial paresis,
gustatory disturbances; xerophthalmia,
paroxysmal lacrimation, xerostomia
( D_IA_GN_o_s,_s
__ )
DIAGNOSTIC IMAGING
MRI Figure 63.2 The gross pathology of an
excised schwannoma.
• Mass detection
7
VERTIGO
osms.i"l/ veT-ligo

)
• Sensation that oneself/surroundings are • Peripheral vertigo
spinning , Mild-moderate disequilibrium (dizziness,
O Symptom, not disease lightheadedness)
• Labyrinth, vestibular nerve, vestibular , Spinning sensation; fatigue, nausea,
centers (in brainstem) damage/dysfunction vomiting; hearing loss, tinnitus, fullness,
ear pain
CAUSES • Central vertigo
• Peripheral vertigo
O Severe disequilibrium
° Calcified otoliths in posterior

O Less prominent spinning sensation,
semicircular canal (canalithiasis) ----. nausea than peripheral vertigo
benign paroxysmal positional vertigo O May be accompanied by neurologic
(most common) deficits, nystagmus
O Labyrinthitis, Meniere disease, herpes
zoster oticus
• Central vertigo
(..____ D_IA_GN_O_SI_S
)
Vestibular migraine; brainstem ischemia;
O
DIAGNOSTIC IMAGING
cerebellar infarction, hemorrhage;
multiple sclerosis MRI/CT scan
• Suspected central vertigo
, Central nervous system abnormalities
MNEMONIC: VOMITS
Causes of vertigo
OTHER INTERVENTIONS
Vestibulitis: labyrinthitis or
vestibular neuronitis Vestibular system function tests
Ototoxic drugs • Differentiate vertigo from other dizziness
Meniere's disease causes
Injury • Electronystagmography
Tumor • Dix-Hallpike maneuver
Spin: benign paroxysmal O Individual sits, head rotated 45° towards
positional vertigo ear being tested ----. individual lowered to
supine past bed's end, extends neck 20°
below horizontal ----. vertigo, nystagmus
reproduced ----. test positive
• Head-thrust test
O Individual fixates on target while head
is rotated quickly----. catch-up saccades,
nvstaqrnus e- test positive
8
• Rotation test
O Individual accelerates, decelerates in
( T_R_E_AT_M_E_N_T
__ )
rotating chair - analyze postrotatory
nystagmus - test positive
MEDICATIONS
• Vestibular migraines (underlying cause)
• Caloric reflex test
, Anticonvulsants, beta blockers
° Cold/warm water/air irrigation into
external auditory canal • Symptomatic treatment
, Antihistamines, antiemetics,
Audiometry anticholinergics, benzodiazepines
• Assess hearing loss
OTHER INTERVENTIONS
9
NOTES afratafreeh.com exclusive
NOTES
•• BRAIN ISCHEMIA
GENERALLY.WHAT IS IT?
( PATHOLOGY & CAUSES ) C D_IA_GN_o_s,_s)
• Impaired brain function due to lack of blood DIAGNOSTIC IMAGING
CT scan
TYPES • Visualize trauma, bleeding, skull fracture
Focal ischemia
MRI
• Occlusion of blood vessel - ! perfusion - • Visualize hypointense, hyperintense blood
affected regions damaged
clot
• !oxygen - ischemic stroke
• Blood vessel rupture - hemorrhagic stroke; MR/CT angiography
bleeding inside parenchyma/between brain • Visualize occlusions, aneurysms
membranes
Global ischemia (..____ T_R_E~_~_M_EN_T )

• Cardiac arrest - whole brain
hypoperfusion - brain damage MEDICATIONS
• Antiplatelet medications (e.g. aspirin/
CAUSES clopidogrel)
• Atherosclerotic plaque/thrombosis/emboli • IV tissue plasminogen activator (tPA)
• Hypertension • Mannitol, other osmotic diuretics
• Blood vessel malformation , j intracranial pressure treatment
• Cardiac arrest, tachycardia. congenital
heart problems SURGERY
• Tumors • Evacuation of blood clot
• l intracranial pressure treatment
(__ SI_G_NS_&_SY_M_PT_O_M_s
) OTHER INTERVENTIONS
• Altered consciousness; weakness; • Manage conditions that worsen prognosis
problems with vision, hearing, swallowing; (e.g. hyperglycemia. fever)
dizziness, vertigo
• See mnemonic for common symptoms
MNEMONIC: FAST
Common stroke symptoms
Facial drooping
Arm weakness
Speech difficulties
Time: reminder to call
emergency services
10
EPIDURAL HEMATOMA
osms.tl:/ epiduTo.l_hemo.-lomo.
O Spontaneous spinal hematoma (very
( PATHOLOGY & CAUSES ) rare)
• Systemic lupus erythematosus
• Nervous tissue compression due to
O Vasculitis, associated with immune
accumulation of blood in epidural space
system reaction
• Head trauma - skull fracture - damage
• Coagulopathies, bleeding diathesis, sickle
of blood vessels through dura mater -
cell anemia
extradural blood accumulation - rapid,
limited expansion of hematoma due to tight
dura adherence at cranial sutures - brain COMPLICATIONS
tissue compression - neurological decline • I intracranial pressure
• Supratentorial herniation - compression of
TYPES arteries - ischemic stroke
• lnfratentorial herniation - brainstem
lntracranial compression - heart, respiratory arrest
• Frontal injuries • Paralysis/sensory loss
O Anterior ethmoidal artery • Seizures
• Temporoparietal (most common)
O Middle meningeal artery
• Occipital ( s,_G_NS_&_SY_M_PT_O_M_s_)
O Transverse, sigmoid sinus
• Initial loss of consciousness, lucid state
• Vertex
if blood slowly accumulating; delayed
O Superior sagittal sinus
neurological deterioration consequence of
Spinal enlarging hematoma compression
• Venous plexus of lumbar, thoracic regions • lntracranial epidural hematoma
O Broken skull with hematoma
O Otorrhea/rhinorrhea
CAUSES O Altered consciousness
• Neurosurgical procedures complication
• f intracranial pressure
• Trauma
O
Headache
lntracranial epidural hematoma O Nausea with vomiting
• Head trauma - pterion skull fracture (most ° Cushing reflex (j blood pressure, ! heart
common) rate, irregular breathing)
• Blood vessel malformations ° Focal signs (weakness of extremities on
opposite side; dilated pupil on injured
Spinal epidural hematoma side due to compression of CN Ill)
• Trauma (e.g. lumbar puncture/epidural • Spinal epidural hematoma
anesthesia) O Radicular back pain (resembles pain
from herniated discus)
RISI( FACTORS O Sensory defects
• More common in individuals who are O Urinary, fecal incontinence
biologically male, between 2-60 years
• Pregnancy
11
MRI
• T2-WI: acutely
, Hypointense blood clot due to
deoxyhemoglobin
• Tl, T2-WI: in following weeks
O
Deoxy - methemoglobin; hyperintense
blood clot
• Tl-WI: months later
O Methemoglobin - hemosiderin;
hypointense mass
C.____ T_R_E~_~_M_EN_T__ )
MEDICATIONS
• Mannitol, other osmotic diuretics
, j urine excretion, ! intracranial pressure
Figure 64.1 A CT scan of the head in the • Anticoagulation reversal
axial plane demonstrating a large epidural = Individuals undergoing surgery, on
hematoma with a classical biconvex shape. anticoagulation therapy
SURGERY
( D_IA_GN_o_s,_s__ ) • Craniotomy
, Evacuation of blood mass
DIAGNOSTIC IMAGING • Embolization/ligation of damaged blood
vessel
X-ray
• Trephination (burr-hole)
• Skull fracture
= In acute EDH, if neurosurgical procedure
CT scan delayed
• Hematoma: typically presents as a • Laminectomy
biconvex, relatively heterogeneous, high = ! blood in spinal epidural hematoma
density mass in the space between skull,
brain; does not cross sutures
OTHER INTERVENTIONS
• Swirl sign: bleeding into blood clot, diverse
• Observation, nonoperative management
hypoattenuated foci
, Awake, conscious individuals
• Assess hematoma volume
, If hematoma volume < 30cm3, thickness
• Skull fracture
< 15mm, midline shift< 5mm
12
INTRACEREBRAL HEMORRHAGE
osms.i-l/in-lY-o.eeY-e\>Y-o.1-hemoY-Y-ho.ge
• Posttraumatic
( PATHOLOGY & CAUSES ) • Coagulopathies
• Sickle cell disease
• Condition characterized by blood vessels
rupture - intraparenchymal blood
accumulation RISI( FACTORS
• Blood vessel trauma, rupture - creates • Individuals who are biologically male of
pool of blood - tissue, surrounding Asian descent
blood vessel compression - hypoxia in • Black individuals who are biologically male
downstream tissue - damage due to of African descent
compression, oxygen lack
• Heavy alcohol use; amphetamines, cocaine
abuse, antithrombotic medications; I
CAUSES LDL, cholesterol, triglycerides; previous
cerebrovascular insult
Hypertension
• Most common
COMPLICATIONS
• Leads to
• Hemorrhage enlargement
O Atherosclerosis in large arteries
• In hemorrhage border
O Hyaline arteriolosclerosis - focal
, Poor prognosis
arterioles necrosis - small wall ruptures
• lntraventricular, subarachnoid expansion
- subclinical microbleeds
° Charcot-Bouchard aneurysms • Hydrocephalus
(microaneurysms)
• Basal ganglia; thalamus; midbrain; pons;
cerebellum primarily affected
Vascular abnormalities • Begin slowly, worsen gradually
• Cerebral amyloid angiopathy • Enlargement of hematoma within few
O Deposition of amyloid in blood vessel hours, j intracranial pressure
walls - vessels more prone to rupture , Altered consciousness, headache,
O Lobar localization: parietal, occipital nausea, vomiting, unequal pupil size
lobes • Fever
O Blood vessels: leptomeningeal, cerebral
Area of brain affected
cortical arterioles
• Anterior/middle cerebral artery: numbness,
• Arteriovenous malformations sudden muscle weakness
O Usually affect children • Posterior cerebral artery: impaired vision
• Aneurysm, vasculitis, vascular tumours (e.g.
• Broca's area: slurred speech
hemangioma)
• Wernicke's area: difficulty understanding
Other causes speech
• Secondary to ischemic stroke
Focal neurological signs
O Blood flow blockage - reperfusion • Basal ganglia manifestation: loss of
- j chance of blood vessel rupture - contralateral sensory, motor functions;
bleeding into dead tissue (hemorrhagic
homonymous hemianopsia
conversion)
• Thalamus: contralateral loss of
13
sensory, motor functions; homonymous MR angiography
hemianopsia; aphasia if dominant/neglect if • Vasculitis, arteriovenous malformations,
nondominant; narrowed pupils unreactive other blood vessel pathology
to light
• Lobar manifestation: homonymous
hemianopsia; if frontal region, contra lateral
LAB RESULTS
leg plegia/paresis; seizures • Prothrombin time (PT). activated partial
thromboplastin time (aPTI), platelet count
• Pons: coma within few minutes of
hemorrhage; quadriplegia, miosis/deafness; , If cause for bleeding diathesis unclear
speaking difficulties when awake
• Cerebellum: ataxia; same side face
weakness; loss of face, body sensory
(.____ T_R_E~_~_M_EN_T__ )
function; occipital headache, neck stiffness
MEDICATIONS
• Vitamin K, unactivated prothrombin
( D_IA_GN_o_s,_s__ ) , With anticoagulant usage
• Protamine sulfate
DIAGNOSTIC IMAGING , For heparin users
• Anti pyretics
CT scan
, Fever reduction
• Hyperdense blood mass acutely; isodense,
ring enhancement appearance in • Osmotic diuretics (e.g. mannitol)
subsequent weeks; hypodense chronically , Regulation of j ICP
• Trauma • Saline
O Multifocal bleedings , Fluid replacement
• Coagulum retracts, edema develops • Nicardipine/nitroprusside/enalapril/
° Confused with hemorrhagic infarction nitroglycerin
, Hypertension
CT angiography • Phenytoin/levetiracetam
• Spot sign: unifocal/multifocal enhancement , Seizures
of contrast; j risk of hematoma expansion
MRI (T2-WI) SURGERY

• Hyperacute (first 24 hours) • Ventriculostomy
O Hyperintense center of mass , Regulation of j intracranial pressure
O Hypointense periphery, border • If hemorrhage > 3cm/1.2in/lobar of young
• Subacute persons/brainstem compression
O Hypointense in > three days: , Craniotomy with clot removal
intracellular methemoglobin , Stereotactic aspiration
O Hyperintense in > seven days: , Endoscopic evacuation
lysis of red blood cells; extracellular
methemog lo bin
° Chronic: hypointense; after two weeks
14
Figure 64.2 A CT scan of the head in the
axial plane demonstrating a right-sided,
periventricular, intracerebral hemorrhage.
ISCHEMIC STROl(E
osms.tl/isehemie-s-lTolce
few minutes of stroke
( PATHOLOGY & CAUSES ) , Blood flow< 10ml/100g tissue/minute
• lschemic penumbra
• Decreased blood supply in specific brain
area due to blood vessel obstruction ----. = Periphery of affected region preserved
hypoperfusion, tissue hypoxia, infarction due to collateral circulation; chance of
survival if blood restored quickly
• ! blood flow----. lack of oxygen, glucose in
brain-e- ! adenosine triphosphate (ATP) = Blood flow< 25ml/100g tissue/minute
production, electrochemical gradient----. cell = Infarction zone spreads if blood supply
death not restored quickly
Two mechanisms of cell death

• Sodium buildup: water follows sodium ----.
TYPES
cell swelling, death Five subtypes (TOAST classification)
• Calcium buildup: creates oxygen radicals • Large artery atherosclerosis
- damages mitochondrial, lysosomal
• Small artery strokes
lipid membrane - seeping of degradative
• Cardioembolic infarction
enzymes, apoptosis-inducing factors - cell
death ° Formation of emboli in heart - lodging
in brain arteries
Two zones • Other determined pathology
• lschemic core • Undetermined pathology
O Brain tissue dies from ischemia within
15
CAUSES Moyamoya disease
• Progressive stenosis of cerebral arteries -
Thrombosis
ischemia
• May lead to obstruction inside blood vessel
• Narrowing of blood vessel due to Dissection of artery wall
atherosclerotic plaque - gradual ! blood
flow RISI( FACTORS
• Damage to atherosclerotic fibrous cap
• Age (esp. > 55)
- platelet, clotting cascade activation -
• More common in individuals who are
thrombus formation with sudden stop of
biologically male
blood flow
• More common in black individuals of
Embolism African descent
• Four classes based on emboli origin • Migraine headaches with aura
° Cardiac emboli: atrial fibrillation, • Genetics; specific gene loci associated with
rheumatic valve disease, infective stroke subtypes
endocarditis, dilated cardiomyopathies, , ABO loci: all subtypes
left atrial myxoma , HDAC9: large vessel stroke
O Possible cardiadaortic emboli: , PITX2, ZFHX3: cardioembolic stroke
calcification of mitral valve annulus,
• Hematologic disorders
patent fora men ova le, atheroma in
O Multiple myeloma, sickle cell disease,
ascending/arch of aorta, atrial septal
polycythemia vera; esp. in younger
aneurysm
individuals
O Arterial emboli: detachment of blood
• Hypertension, diabetes mellitus,
clot (e.g. atherosclerotic plaque in bigger
heart diseases, dyslipidemia,
upstream artery) - emboli travels
hyperhomocysteinemia, smoking, physical
through blood - lodges in smaller
inactivity, cocaine abuse
downstream artery
° Cryptogenic: unknown origin of emboli
COMPLICATIONS
Lacunar infarct • Blood reaches infarcted regions through
• Affects small blood vessels of distal collateral blood vessel/dissolution of
vertebral, basilar artery, middle cerebral occlusive embolus/thrombus; first week
artery, circle of Willis
O Lipohyalinosis: buildup of hyaline in Hemorrhagic transformation
arterioles wall - hypertrophy of tunica • lschemia - impaired cellular, metabolic
media - progressive narrowing of functions of affected region; j permeability
arterioles until blood flow stops of damaged blood vessels - resolved
O Microatheromatoma: narrowing of cause of ischemia - restored blood flow -
blood vessel due to debris accumulation blood extravasation
within wall • Gray matter more commonly affected;
large number of collateral vessels worsen
Hypoperfusion reperfusion injury
• Lack of blood reaching brain due heart • Massive cerebral infarction; hyperglycemia;
failure, ! cardiac output ! cholesterol, LDL, IV recombinant tissue
• Most vulnerable plasminogen activator (rtPA): higher risk of
O Spaces between supply of two arteries hemorrhagic transformation
(watershed regions)
Cerebral edema
Inflammation of blood vessel wall • l intracranial pressure with possible
• E.g. Takayasu/giant cell arteritis herniation
n Cytotoxic: defective ATP pump, swelling
of brain cellular elements due to water
16
accumulation difficulties; facial weakness; hand
O Vasogenic: j permeability of blood-brain weakness, clumsiness (clumsy hand
barrier - j extracellular fluid volume syndrome)
due to j passing of proteins, other
Anterior cerebral artery
macromolecules
• Contralateral hemiparesis (esp. leg, face),
Liquefactive necrosis sensory deficit; inability to understand,
• First 48 hours: edema, paleness of affected produce speech (left hemisphere); impaired
region judgment; incontinency
• 2-10 days: affected area gelatinous; Middle cerebral artery
noticeable border between healthy,
• Contralateral paresis (esp. face, arm),
damaged tissue
sensory deficit; inability to understand,
• 3-21 days: liquefaction of tissue; fluid-filled
produce speech (left hemisphere);
cavity
hemispatial neglect (right hemisphere);
Seizures homonymous hemianopsia; deviation of
eye to damaged side
• Brain injury - j irritability of nervous tissue
with neuronal discharges Posterior cerebellar artery
Deep vein thrombosis • Homonymous hemianopsia
• Esp. immobilized individuals • Cortical blindness (bilateral lesion)

• Midbrain
Pneumonia O
Oculomotor, trochlear palsy - dilated
• Swallowing mechanism impairment - pupil
aspiration pneumonia • Thalamus
• lntubation/ventilatory support - j risk for O Sensory loss, impaired memory, altered
pneumonia consciousness
• Posterior cerebellar artery syndrome (PICA)
Dysphagia
• Due to damage of cortex, subcortical
O AKA "Wallenberg" syndrome
structures responsible for swallowing O Dizziness, nystagmus; speech,
swallowing difficulties
Dementia O lpsilateral: facial sensory loss, Homer's
• Altered memory, cognition, behavior due to sign, ataxia
brain damage ° Contralateral: loss of pain, temperature
sensation in limbs
(__ s,_G_NS_&_S_Y_M_PT_O_M_s_) Basilar, vertebral arteries

• Dizziness; gait, vision disorders; dysarthria,
Thrombosis dysphagia
• Neurological defects • Locked-in syndrome
O Thrombosis/embolism of basilar artery
Embolism
O Plegia of head, body muscles, except
• Sudden start of symptoms; maximum
eye; only blinking, vertical eye
defects
movement possible
Lacunar stroke
• Contralateral, mostly motor/sensory
defects; four syndromes
( D_IA_G_N_os_,s )
O Pure motor stroke: internal capsule
DIAGNOSTIC IMAGING
lesion
• If applicable
O Pure sensory stroke: thalamus lesion
O Ataxic hemiparesis Noncontrast CT scan
O Dysarthria: speech, swallowing • First few hours
17
O Affected tissue appears normal
• Later
O Loss of differentiation between white,
grey matter
O Hypodense parenchyma with sulcal
effacement
O Loss of insular ribbon sign
CT perfusion
• Detection of core, ischemic penumbra
CT angiography
• Find thrombus, embolus in blood vessel/
intra-arterial thrombolysis
MRI
• Tl, T2 weighted imaging (see table)
• Diffusion-weighted imaging
O Shows ischemic stroke early;
differentiation from acute, chronic
• Fluid-attenuated inversion recovery (FLAIR) axial plane demonstrating a large ischemic
sequence stroke in territory of the middle cerebral
O Hyperintense signal within 12 hours artery. The scan was performed three days
after the onset of symptoms.
Transcranial Doppler ultrasound
• Visualization of occlusion in middle cerebral
artery/intracranial carotid/vertebrobasilar
artery ( T_R_E~_~_M_EN_T__ )
Conventional angiography MEDICATIONS
• Visualize occlusion; for confirmation of CTA, • Establishment of blood flow in ischemic
MRA findings penumbra
, Thrombolytic enzymes: rtPA;
LAB RESULTS alteplase given within 4.5 hours; after
• Blood tests hemorrhagic stroke ruled out
O f cardiac markers in heart disease , Antiplatelet therapy: aspirin (325mg
orally within 48 hours); other drugs (e.g.
O r erythrocytes in polycythemia vera
clopidogrel/aggrenox)
O Toxicology screening (individual
suspected of sympathomimetics abuse) • Hypertension treatment
O IV labetalol/nicardipine: only if systolic
O r blood glucose level
pressure> 220, diastolic> 120
mmHg; except in individuals with vital
OTHER DIAGNOSTICS indications for lowering blood pressure
• Symptoms, neurological changes scoring (acute myocardial infarction, kidney
• Based on National Institute of Health stroke failure, dissection of aorta)
scale (NIHSS) • Cerebral edema management
O Antipyretic: if temperature ::::: 40°C/
ECG 100.4°F
• Detection of myocardial ischemia/atrial O IV insulin: hyperglycemia; keep glucose
fibrillation between 140-180 mg/di (7.8-10
mmol/L)
18
• Prevention OTHER INTERVENTIONS
O Anticoagulant medications: emboli • Cerebral edema management
prevention (e.g. warfarin, aspirin) = Hyperbaric oxygen therapy: j pure
oxygen supply in damaged regions
SURGERY = Fluid management: isotonic saline
without dextrose
• Establishment of blood flow in ischemic
penumbra • Protection of airwaves, prevention of
aspiration
O Mechanical embolus removal in cerebral
ischemia (MERCI) retriever = Head elevation by 30%, nothing by
mouth/nil per os (NPO) status
O Penumbra system (aspiration,
extraction) • Prevention
O Solitaire revascularization device, Trevo = Control risk factors (for atherosclerosis):
(stent-retriever systems) e.g. smoking, hypertension, diabetes,
aspirin use; carotid endarterectomy
• Cerebral edema management
= Lifestyle alteration: exercising,
o Craniectomy
appropriate diet
PSYCHOTHERAPY
• If applicable
• Type of psychotherapy (e.g. group
therapy, exposure therapy) with goal of
psychotherapy
Absent flow void signal (2 hours);

Hypotense signal
Hypcrintcnsc siqnal from
(16-24 hours}
attcctcd region (8 hours}
Tl. T2-WI masked by

reperfusion in 24-48
Hypo intense Hyperintense
hours - fogging
phenomenon
19
SACCULAR ANEURYSM
osms.i"l/seccu lo.-r-o.neu-r14sm
disease (ADPKD), bacterial endocarditis,
( PATHOLOGY & CAUSES ) fibromuscular dysplasia
• Familial predisposition; smoking; alcohol,
• Asymmetrical ballooning of blood vessel cocaine use; hypertension; trauma
wall
• Bifurcation of arteries common place esp.
on circle of Willis due to weakness of wall, COMPLICATIONS
turbulent blood flow • Warning leaks
O Anterior communicating (most , May precede aneurysm rupture; strong
common); posterior communicating; headaches, photophobia, nausea/
middle cerebral; internal carotid; basilar vomiting
artery tip • Rupture----. subarachnoid hemorrhage
, Apex of aneurysm/atheromatous plaque
TYPES edge
O j risk in smokers, individuals with
Type A migraines, elderly, affection of posterior
• Blood vessel wall with endothelium, linear circulation, larger size
smooth muscle • lschemia
, Thrombus forms within aneurysm ----.
Type B
detachment of small particles (emboli)
• Disorganization of smooth muscle, ----. emboli lodges----. ischemia of
thickening of wall downstream tissue
TypeC • Multiple aneurysms
• Hypocellular wall with thickening of inti ma/
luminal thrombosis
(__ s,_G_NS_&_SY_M_PT_O_M_s_)
Type D
• Hypocellular wall coated with thin • May be asymptomatic if small
thrombosis layer • Mass effect symptoms due to size
O Anterior communicating artery: both leg
weakness with positive Babinski sign
CAUSES
, Posterior communicating, internal
• Inborn defect of arteries, lack of external
carotid artery: headaches with palsy of
lamina, tunica medla -s hemodynamic
stress over years ----. gradual ballooning oculomotor nerve
O Left middle cerebral artery: inability to
of blood vessel wall, thickening of inti ma,
adventitia understand, produce speech
, Right middle cerebral artery:
contralateral field vision loss
RISI( FACTORS
biologically female, > 50 years (due to
estrogen deficiency)
• Diseases associated with aneurysm
O Ehler-Danlos syndrome,
pseudoxanthoma elasticum, lupus,
autosomal dominant polycystic kidney
20
( D_IA_GN_O_SI_S ) ( T_R_E~_~_M_EN_T
)
DIAGNOSTIC IMAGING SURGERY
• Endovascular management
CT/MR angiography
, Aneurysmal coiling with thrornbosls c-
• Detect aneurysms > 2mm
endothelialization across aneurysm neck
----. prevents rebleeding, regrowth
• In development: stent-assisted, balloon-
assisted coiling; disruptors, flow
diverters
• Surgical clipping
OTHER INTERVENTIONS
• Regular monitoring with CTA/MRA
• Avoid smoking, alcohol, drugs. excessive
strain
SUBARACHNOID HEMORRHAGE
(SAH)
osms.i"l/ su\>o.To.ehnoid-hemoTTho.ge
• Smoking; hypertension; alcohol, cocaine
( PATHOLOGY & CAUSES ) abuse
• Diseases associated with saccular
• Bleeding into space between pia mater,
aneurysm (e.g. blood vessel disorders,
arachnoid membrane Ehlers-Danlos syndrome, Marfan
• Injury/spontaneous event-» rupture of syndrome, polycystic kidney disease)
blood vessel in subarachnoid space ----.
release of blood into cerebrospinal fluid
r
(CSF) ----. rapid intracranial pressure
• Coagulopathies
CAUSES COMPLICATIONS
• Vasospasm
• Traumatic: head injury (e.g. bridging vein
O Delayed ischemia; 4-11 days after SAH
tear)
• Spontaneous: arterial origin (more • Blood clot lysis ----. release of
common) spasmogenic substances (e.g.
endothelin), ! production of nitric oxide
O Rupture of saccular "berry" aneurysms
----. vasospasm due to smooth muscle
(e.g. anterior half of circle of Willis)
contraction-« brain ischemia
O Arteriovenous blood vessel
• Hydrocephalus
malformations
°Clogging of CSF drainage
• Rebleeding
RISI( FACTORS O May occur two weeks after SAH

O j tendency in individuals with
biologically female, elderly
21
hypertension, anxiety, seizures post- O j intracranial pressure - abducens
SAH nerve paralysis - eye pointing out -
O Associated with j mortality, neurological diplopia
damage
• Sympathetic hyperactivity due to j
intracranial pressure, SAH ("sympathetic ( D_IA_GN_o_s,_s )
surge") - sudden, life-threatening t of
blood pressure due to vasoconstriction DIAGNOSTIC IMAGING
• j plasma adrenaline levels due to Noncontrast CT scan
sympathetic hyperactivity - arrhythmias
• Fisher scale grading
• Over-action of sympathetic nervous
, Group 1: no hemorrhage
system - pulmonary vasoconstriction
, Group 2: blood depositions < lmm,
- I capillary permeability, pressure -
without blood clots
neurogenic pulmonary edema
, Group 3: blood depositions > lmm, with
• Hyponatremia
localized clots
• Meningitis (irritation from presence of
, Group 4: diffuse/lack of subarachnoid
blood)
hemorrhage with extension to
• Seizures
ventricles, brain parenchyma
• Hydrocephalus
(__ s,_G_NS_&_S_Y_M_PT_O_M_s__ ) 0 "Mickey Mouse" ventricular system
appearance
• Area of brain
MRI
O Anterior/middle cerebral artery:
• Visualize arteriovenous malformations (not
numbness, sudden muscle weakness
detected by angiography)
O Broca's area: slurred speech
O Wernicke's area: difficulty Digital-subtract
ion cerebral/CT/MR angiog-
understanding speech raphy
• j intracranial pressure • Visualize aneurysm
O Thunderclap headache: "worst ever"
headache; may be only symptom LAB RESULTS
O Nausea, vomiting • Identify hematologic abnormalities
• Altered consciousness; coma, confusion. • PT, aPTT: identify coagulopathies
seizures • I troponin, if heart abnormalities present
• Meningeal irritation: bleeding into
subarachnoid space filled with CSF -
blood degradation - irritation of meninges. OTHER DIAGNOSTICS
development of aseptic meningitis • Lumbar puncture
O Neck pain, stiffness , i erythrocytes in all three samples
O Positive meningeal signs: Kernig's (pain , CSF centrifugation: yellow coloration
generated by knee extension from 90°); due to erythrocytes breakage, release
Brudzinski's (forced neck flexion - of heme ("xanthochromia"); positive 3-4
spontaneous knee. hip flexion) weeks after SAH
O Photophobia • Physical examination
• Focal neurological signs ° Characteristic neurological presentation;
O Posterior communicating artery fever; tachycardia; fundoscopy (optic
aneurysm rupture/brain herniation due disc swelling, retinal hemorrhages)
to j intracranial pressure - oculomotor
ECG
nerve paralysis - ipsilateral ptosis; eye
pointed down, out; mydriasis, loss of • l QRS, QT intervals; ! PR intervals; U
waves; dysrhythmias
pupillary light reflex
22
( T_R_E~_~_M_EN_T
)
MEDICATIONS
• Antihypertensive therapy: beta-blockers;
hydralazine, calcium channel blockers; ACE
inhibitors
• lntracranial pressure treatment: osmotic,
loop diuretics
• Prior all procedures: IV midazolam (initial
treatment)
• Vasoconstriction treatment: calcium
channel blocker (e.g. nimodipine).
recombinant tissue plasminogen activator
• Seizure treatment: phenytoin/phenobarbital
Figure 64.4 A CT scan of thea head in the
• Pulmonary edema treatment: diuretics. sagittal plane demonstrating high signal in
dobutamine the sulci of the frontal lobe, consistent with a
subarachnoid hemorrhage.
SURGERY
• Aneurysm treatment: endovascular coiling
(with aneurysm obliteration), craniotomy
(with aneurysm neck clipping, coiling)
• Vasoconstriction: aspiration/irrigation of
blood clot during clipping process, CSF
drainage, transluminal balloon angioplasty
• Hydrocephalus: temporary/serial lumbar
puncture for CSF drainage, permanent
ventricular shunt, ventriculostomy
OTHER INTERVENTIONS
• Vital sign stabilization
• Intubation if comatose, heart monitoring
(initial treatment)
• Keep blood pressure < 140mmHg to avoid
rebleeding
23
SUBDURAL HEMATOMA (SDH)
osmsJl/ su \,du,-o.1-hemo..lomo.
of brain on surrounding structures-«
( PATHOLOGY & CAUSES ) bridging veins tear
• Shaken baby syndrome
• lntracranial bleeding with blood
accumulation between dura mater, • Spontaneous
arachnoid membrane 'Vascular malformations
• Head trauma=« tearing of venous • Neurosurgical procedure complication
blood vessels/small cortical arterles=-
blood accumulation ----> limited blood RISI( FACTORS
mass expansion due to adherent dural
• Brain atrophy elderly
attachments ----> brain tissue compression
' i bridging veins stretch
• Infants, alcohol abusers
TYPES O Thinner wall of bridging veins
Acute • Epilepsy, anticoagulant drugs,
• Slow blood outflow into subdural space thrombocytopenia
due to low pressure in bridging veins
COMPLICATIONS
Subacute
• Liquefaction of granulation tissue in chronic
• Combination of fluid, clotted blood
subdural hematoma (subdural hygroma)
Chronic ----> I protein ----> expansion of mass due to
water drawn by osmotic pressure ----> mass
• Caused by minor trauma/inflammation
effect brain injuries
• More common in elderly
• I intracranial pressure ----> supratentorial,
• Head trauma with small bleeding, dural
infratentorial herniation of brain
border cell damage----> inflammation,
• Progressive dementia in chronic subdural
unsuccessful attempt to repair border
hem atom a
cells with formation of granulation
tissue ----> encapsulation; development
of blood vessels within new membrane
----> erythrocytes, plasma exudation from ( s,_G_NS_&_S_Y_M_PT_O_M_s_)
leaky capillaries to encapsulated space---->
recurrent bleeding with expansion • Loss of consciousness after trauma/in
ensuing days due to hematoma expansion
• Bleeding characteristics
CAUSES O Hemispheric: most common
• Head trauma (most common) O lnterhemispheric: altered consciousness,
• Acceleration-deceleration (coup- headache, hemiparesis
contrecoup injury)
• Physical examination
• cceleration of body ----> sudden stop with O Broken basilar skull: periorbital
forwarding momentum carrying brain ---->
ecchymosis (raccoon eyes).
impacts front of skull ----> backward brain
retroauricular ecchymosis (Battle's sign)
movement----> impacts back of skull ---->
n CSF rhinorrhea/otorrhea
bridging veins tear
• lntracranial hypotension • Acute subdural hematoma
O Neurological presentation in 48-72
0 ! CSF due to lumbar puncture/
lumboperitoneal shunt v- j traction hours
24
O May be comatose/awake
O Sudden, severe headache with nausea,
vomiting; unequal pupils; difficulties in
speech, swallowing; palsies of cranial
nerves
• Subacute
O Presents 2-14 days
• Chronic
O Present 14 days after injury
O Impaired cognitive skills, altered
consciousness, headaches, contralateral/
ipsilateral hemiparesis (depends on
hematoma location), hemianopsia, optic
disc swelling
( D_IA_GN_O_s,_s __ )
DIAGNOSTIC IMAGING
CT scan
Figure 64.5 A CT scan in the axial plane
• Acute: crescent-shape hyperdense blood
demonstrating a large, right-sided, subdural
collection
hematoma. The hematoma has a classical
• Subacute/chronic: isodense/hypodense crescentic shape.
crescentic mass
MRI
• T2-WI (acutely): hypointense blood clot
( T_R_E~_~_M_EN_T__ )
due to deoxyhemoglobin
MEDICATIONS
• Tl, T2-WI (in following weeks): bright
• Diuretics
appearance; deoxy----. methemoglobin
= ! intracranial pressure
• Tl-WI (months later): hypointense clot due
• Vitamin K/factor VIII inhibitor activity
to hemosiderin remains
bypassing agent (FEIBA)/frozen plasma
MR/CT angiography reverse; ! risk of
= Anticoagulation
• Spontaneous SDH hematoma enlargement; individuals
undergoing surgery
SURGERY
• If clot thickness> lOmm, mid line shift>
5mm, intracranial pressure> 20mmHg
= Burr hole, craniotomy, decompressive
craniectomy, blood vessel ligation
OTHER INTERVENTIONS
• Nonsurgical treatment based on Glasgow
coma score (GCS); clot thickness (<
lOmm); neurological examination; stable/
deteriorated condition; comorbidities,
associated injuries; age
25
TRANSIENT ISCHEMIC ATTAC,I(
(TIA)
osms.i"l/-lTC1nsien-l-isehe mie-C1tlC1ek
, If nondominant hemisphere affected

( PATHOLOGY & CAUSES ) • Distal vertebral artery
, Dizziness, difficulty speaking, double
• Short-lasting neurological dysfunction
vision
due to transient focal ischemia, without
infarction • Mid-basilar artery
• Blood vessel occlusion/stenosis ----> ! blood O Dizziness, paresis affecting both legs/
flow in affected region ----> neurological arms
dysfunction
Embolic TIA (> one hour)
• Anterior cerebral circulation
CAUSES O Symptoms depend on blood vessel
• Adults: thrombosis, hypoperfusion, emboli lodged
• Children: congenital heart defects with O Middle cerebral artery: contralateral
thrombosis, coagulopathies, idiopathic hemiplegia; aphasia if dominant
progressive arteriopathy of childhood hemisphere; hemispatial neglect if
(Moyamoya disease) nondominant
O Branches of middle cerebral artery:
RISI( FACTORS numbness/motor function loss; face,
• More common in black individuals of arm, leg
African descent who are biologically male; j O Ophthalmic artery: amaurosis fugax;
risk with age transient monocular/binocular vision loss
• Family history. hypertension, diabetes. • Posterior cerebral circulation
obesity, obstructive sleep apnea, j low- O Dizziness, focal hearing loss. speech
density lipoprotein (LDL). ! high-density difficulties, double vision. hemi/
lipoprotein (HDL). atherosclerosis, cocaine quadrantanopia, face/body numbness
abuse, smoking O Basilar artery: thalamus. subthalamus,
medial midbrain, reticular activating
COMPLICATIONS system ----> stupor/coma
• Recurrent TIA
• lschemic stroke (.____ D_IA_GN_O_s,_s __ )
DIAGNOSTIC IMAGING
CT/MR/conventional catheter angiography
• Duration: few minutes to one hour • Occlusion within blood vessel
! flow in large arteries (few minutes) Diffusion-weighted MRI

• Numbness/paresis • lschemic regions corresponding to
° Face. cheek, tongue. arm. hand, leg neurologic symptomatology
• Aphasia • Changes seen within first few hours of
O If dominant hemisphere affected symptoms
• Hemispatial neglect
26
Perfusion-weighted MRI
• !tissue blood flow
( T_R_E~_~_M_EN_T
)
Neck Doppler ultrasound MEDICATIONS
• Evaluate carotid stenosis • Anti platelet (noncardioembolic TIA)
, Aspirin/extended-release dipyridamole/
aspirin + clopidogrel
LAB RESULTS
• Anticoagulation
• Hypoglycemia, hyponatremia,
= Atrial fibrillation: low-molecular-weight
thrombocytosis: rule out conditions that
heparin
mimic TIA
= Heart thrombus: in acute myocardial
infarction/rheumatic mitral valve;
OTHER DIAGNOSTICS warfarin + direct acting oral
• See mnemonic anticoagulants (e.g. apixaban)
O ABCD2 score: evaluate risk for possible • Diuretics, angiotensin-converting enzyme
ischemic stroke (can occur two days (ACE) inhibitors
after TIA) = Blood pressure control
• Statins
= Cholesterol management
MNEMONIC: ASCO:t
' Evaluating ischemic stroke
risk SURGERY
Age • Same side carotid stenosis/TIA
Blood pressure • Carotid endarterectomy
Clinical features
Duration of symptoms OTHER INTERVENTIONS
Diabetes • Mediterranean diet
27
NOTES
NOTES
•• CEREBRAL CORTEX NERVOUS
SYSTEM INFECTIONS

( PATHOLOGY & CAUSES ) (.._____ D_IA_GN_O_s,_s
__ )
• Infection, inflammatory disorders of central DIAGNOSTIC IMAGING
nervous system (CNS), surrounding tissues
Brain CT scan/MRI
• With contrast: bright ring with dark
CAUSES center indicates brain abscess; underlying
• Bacteria (most common), viruses, fungi, sinusitis, thickening of superior ophthalmic
parasites, prions, aberrant immune vein, irregular filling defects indicate
responses, reactions to medications cavernous sinus thrombosis; fluid
collections in epidural space indicate
RISI( FACTORS epidural abscesses
• lmmunocompromised individuals (e.g. HIV, • Focal/diffuse diffusion-restriction, cerebellar
diabetes, chemotherapy, corticosteroid use) atrophy indicates Creutzfeldt-Jakob disease
(CJD)
LAB RESULTS
• Lumbar puncture (if not contraindicated)
• Fever
, Culture, biochemical analysis of fluid
• Headache
• Blood cultures
• Focal neurological symptoms
• Altered level of consciousness
( T_R_E~_~_M_EN_T
__ )
MEDICATIONS
• Empiric antibiotic therapy followed by
targeted therapy once cause identified
• Corticosteroids to manage inflammation/
cerebral edema
28
BRAIN ABSCESS
osms.i"l/\,,-o.in-o.\>seess
( PATHOLOGY & CAUSES ) (__ SI_G_NS_&_S_Y_M_PT_O_M_s_)

• Localized focal necrosis of brain tissue with • Classic triad (20% of cases)
inflammation, usually caused by bacterial n Fever, progressively worsening focal
infection neurology, headache
• Rare (de novo within brain; primary O Increased intracranial pressure (ICP)
infection typically arises elsewhere, spreads while supine ----. worse headache
to brain) early morning, at night/increased ICP
stimulates medullary center, area
Sources of infection
postrema ----. morning vomiting
• Direct implantation
• Mental status change, seizures, nausea,
O Traumatic inoculation (e.g. head trauma vomiting, papilledema
----. skull fracture with broken skin ----.
bacterial contamination)
O Iatrogenic: contamination through ( D_IA_GN_O_SI_S
__ )
invasive procedures
• Local extension from adjacent foci of DIAGNOSTIC IMAGING
infection
MRI/CT scan with contrast
O Ear infection, dental abscess, paranasal
sinusitis, mastoiditis, epidural abscess • Initial immature lesions without capsule:
difficult to distinguish from space-
• Hematogenous spread
occupying lesions/infarcts
O Distant sources of infection (e.g. organ
• 4-5 days after initial infection: formation
infection)
of capsule around necrotic focus ----. ring-
° Congenital heart disease with right-to-
enhancing appearance
left shunt=- loss of pulmonary filtration
• Intravenous contrast material cannot
of microorganisms ----. abscesses in
pass through capsule----. accumulation
distribution of middle cerebral artery
around lesion ----. bright ring with dark
• Common causative bacterial organisms
center
(abscesses often polymicrobial)
O Staphylococcus aureus, Streptococcus,
Bacteroides, Enterobacteriaceae, LAB RESULTS
Pseudomonas • Lumbar puncture
• lmmunocompromised hosts may develop • If intracranial pressure not significantly
viral/fungal abscesses, commonly raised
caused by poliovirus, Toxoplasma gondii, O j white cell count, j protein
Cryptococcus neoformans concentration, normal glucose content
• Abscess aspirate
RISI( FACTORS • Sample obtained via imaging-guided
• Right-to-left cardiac shunts, bronchiectasis, aspirate/during surgical drainage;
immunosuppression culture of causative organism ----. specific
treatment
COMPLICATIONS
• lschemia/necrosis of pituitarv -» pituitary
insufficiency----. Addisonian crisis
29
(..__ __ T_R_E~_~_M_EN_T
)
MEDICATIONS
• Targeted antibiotic therapy
O Penetration through abscess wall
poor, typically accompanies surgical
management
• Hyperbaric oxygen therapy
O Reduces intracranial pressure,
bacteriostatic. enhances oxidative
immune function
• Corticosteroids in complicated cases with
pituitary insufficiency
SURGERY Figure 65.1 A CT scan of the head in the

• Drainage axial plane demonstrating a abscess in the
left frontal lobe. This example developed five
• Removal of any foreign material
weeks following a repair of a depressed skull
fracture.
CAVERNOUS SINUS THROMBOSIS

osmsJl/eo.veTnous-sinus--lhTom \>osis
RISI( FACTORS
( PATHOLOGY & CAUSES ) • lmmunosuppression (e.g. uncontrolled
diabetes, corticosteroid use, cancer,
Cavernous sinuses ch e moth era py)
• Irregularly shaped, trabeculated. blood filled • Thrombophilia
cavities, acts as venous channel between
• Obesity
endosteum, dura mater at base of skull
• Severe dehydration
• Numerous important structures pass
through cavernous sinuses
O Internal carotid artery COMPLIC ATIONS
° Cranial nerves Ill. IV. V (branches Vl. • Dural venous, cavernous system valveless
V2),VI ----. communication with dural sinuses,
• Drain into internal jugular vein cerebral. emissary veins e- meningitis, dural
empyema, brain abscess
Infection • Spread via jugular vein to pulmonary
• Infection ----. formation of blood clot within vasculature ----. septic emboli, pulmonary
cavernous sinus abscesses, pneumonia
• Infection often arises via contiguous spread • Carotid artery narrowing ----. stroke
from nearby infection (e.g. nasal furuncle, • lschemia/direct infectious spread ----.
sphenoidal/ethmoidal sinusitis/dental hypopituitarism
infection)
° Commonly associated organisms:
Staphylococcus aureus, Streptococcus
30
MRI
) • Tl, T2: absent flow void, abnormal signal
characteristics of affect cavernous sinus
• Local compression, inflammation of cranial
• Contrast venogram: deformity of internal
nerves (Ill-VI)---'> several partial/complete
carotid artery in cavernous sinus, signal
cranial neuropathies
hyperintensity in thrombosed vascular
O Diplopia, limited eye abduction, non-
sinuses
reactive pupil, numbness/paresthesia
around eyes, nose, forehead, facial pain
• Decreased drainage from facial vein, ( T_R_E_AT_M_E_N_T __ )
superior, inferior ophthalmic veins ---'>
periorbital edema, chemosis (conjunctiva! MEDICATIONS
swelling), proptosis, headache
• Broad spectrum empiric antibiotic therapy
until primary agent, source identified
( D_IA_GN_O_SI_S
)
SURGERY
DIAGNOSTIC IMAGING • Sinus drainage (e.g. drainage,
sphenoidotomy if primary infection arises
CT scan from sphenoidal sinuses)
• Non-contrast: high-density thrombus in
cavernous sinus
• With contrast: underlying sinusitis,
thickening of superior ophthalmic vein,
irregular filling defects in cavernous sinus
CREUTZFELDT -J"Al(08 DISEASE

osms.i"l/ eTeu-l2f elcH:-J'o.ko\,-diseo.se
---'> holes form where nerves died ---'>
( PATHOLOGY & CAUSES ) sponge-like appearance on microscopy
• Universally fatal prionopathy; spongiform

encephelopathy -e rapidly progressive TYPES
dementia • Sporadic (sCJD)
• Native prions play role in long-term • Majority (> 85%) of cases occur
memory, neuronal repair spontaneously
• Infectious prions composed entirely of • Familial (fCJD)
protein, folded in structurally abstract = Minority(<
10%) transferred via
conformations; able to pass on "misfolded" autosomal dominant inheritance
conformation • Variant (vCJD)
O Infectious prions propagate by inducing O Bovine-to-human transmission of
misfolding of native host prion proteins bovine spongiform encephalopathy
---'> formation of new infectious prions
• Iatrogenic (iCJD)
O Malformed prion proteins extremely
• Exposure to brain/spinal tissue from
stable (resistant to denaturation by infected individual (e.g. cadaveric human
enzymes) ---'> accumulation in infected
pituitary hormone)
neuronal tissue e- formation of amyloid
sheets=- eventual tissue damage, death
31
RISI( FACTORS
• Exposure to harvested human brain
( T_R_E~_~_M_EN_T
)
products (e.g. corneal grafts, dural grafts,
human growth hormone), ingestion of
MEDICATIONS
infected bovine products, cannibalism • Sedatives/antidepressants/antipsychotics
, Palliative, relief of psychiatric symptoms
• Benzodiazepines/antiepileptics
COMPLICATIONS
, Palliative, relief of movement disorders
• Progressive neurodegeneration -
(e.g. myoclonic jerks)
dysphagia - aspiration pneumonia
common
• Rapidly progressive dementia: memory
loss, personality change, hallucinations
• Movement disorders: myoclonus, ataxia,
rigid posture
• Psychiatric: anxiety, depression. psychosis
( D_IA_GN_o_s,_s __ )
DIAGNOSTIC IMAGING Figure 65.2 A section of the brain
demonstrating a prion plaque. This individual
MRI displayed the symptoms of variant CJD.
• Diffusion-weighted MRI
° Focal/diffuse diffusion-restriction
involving cerebral cortex/basal ganglia
• Fluid-attenuated inversion recovery
(FLAI R)/T2-weig hted
O Hyperintense signal changes in basal
ganglia, thalamus, cortex
• Cerebellar atrophy
LAB RESULTS
• Cerebrospinal fluid (CSF)
O Elevated concentration of 14-3-3
protein
• Tissue biopsy
O Prion deposits in brain (definitive
diagnosis) skeletal muscle, tonsils.
spleen; classical histological appearance
- spongiform change in gray matter
OTHER DIAGNOSTICS
• Electroencephalography (EEG)
O Generalized periodic sharp wave pattern
32
ENCEPHALITIS
osmsJl/ eneepho.li-1:is
( PATHOLOGY & CAUSES ) (~~SI_G_NS_&~SY_M_P_TO_M_s_)

• Acute inflammatory brain disease due • Fever, chills, malaise
to direct invasion/pathogen-initiated • Meningeal involvement=-. meningism
immune response----. inflammation of brain n Nuchal rigidity (inability to flex neck
parenchyma (often with meningitis) forward passively due to increased
O Peripheral nerves conduits to brain muscle tone, stiffness), headache,
parenchyma for viral infection-rabies, photosensitivity
herpes simplex virus (HSV) • Parenchymal involvement=-s focal
O Hematogenous spread ----. transfer of neurological signs, seizures, altered mental
infections from distant sites state
CAUSES
• Viral (most common): HSV-1 (most
(...____ D_IA_GN_O_s,_s
__ )
common), arbovirus (e.g. West Nile virus),
enterovirus (e.g. Polio), varicella zoster
DIAGNOSTIC IMAGING
virus (VSV), Epstein Barr virus (EBV), HIV, Brain CT scan (with/without contrast)
influenza • Complete prior to lumbar puncture to
• Bacterial: Listeria monocytogenes, exclude significantly increased ICP,
mycobacteria, spirochetes (e.g. syphilis) obstructive hydrocephalus, mass effect
• Parasites: protozoa (e.g. Toxoplasma),
malaria Brain MRI
• Fungi: cryptococcus • Increased T2 signal intensity in
frontotemporal region ----. viral (HSV)
• Non-infectious, autoimmune: acute
encephalitis
disseminated encephalomyelitis, anti-N-
methyl-D-aspartate (NMDA) receptor
encephalitis, T-cell lymphoma LAB RESULTS
Blood tests
RISI( FACTORS
• Blood, CSF cultures
• lmmunosuppression O Bacterial pathogens
• Travel to low-income nations
• Blood glucose
• Exposure to disease vectors in endemic
° Comparison with CSF glucose; exclude
areas
confusion due to hypoglycemia
• Toxoplasma serology
COMPLICATIONS
• Seizures, syndrome of inappropriate CSF
secretion of antidiuretic hormone (SIADH), • CSF chemistry
increased ICP, coma O Lymphocytosis (> 5WBC/ml) with
normal glucose----. viral encephalitis
• CSF polymerase chain reaction (PCR)
O Diagnosis of specific viral cause
• Specific antibody testing for EBV, arbovirus
33
Tissue analysis
• Tzanck smear (from base) of suspicious skin
lesions ----> identify presence of VZV/HSV
• Brain biopsy (definitive diagnosis)
° Cowdry type A inclusions (HSV, VZV,
CMV)
O Hemorrhagic necrosis in temporal,
orbitofrontal lobes (HSV)
OTHER DIAGNOSTICS
• EEG
O Temporal lobe discharges----> viral (HSV)
encephalitis
(.____ T_R_E~_~_M_EN_T__ )
Figure 65.3 An MRI scan of the head
MEDICATIONS demonstrating increased signal in the left
• Viral encephalitis temporal lobe. HSV encephalitis was later
confirmed by PCR of the cerebrospinal fluid.
O HSV encephalitis: acyclovir
° CMV encephalitis: ganciclovir/foscarnet
O Most viral infections lack specific
antiviral agent
• Bacterial encephalitis
O Targeted antibiotics
Figure 65.4 A histological section of the

brain demonstrating a lymphocytic infiltrate
in an individual with encephalitis.
34
EPIDURAL ABSCESS
osms.tl/ epiduTo.1-o.\>seess
• Loose association between dura, vertebral
( PATHOLOGY & CAUSES ) bodies - extension of spinal epidural
abscess to multiple spinal levels -
• Collection of pus, infectious material in extensive neurological findings
epidural space of CNS
• Typically caused by Staphylococcus aureus,
enteric gram-negative bacilli (e.g. E. coli),
TYPES coagulase-negative Staphylococci reaching
dural space
lntracranial epidural abscess n Direct extension of local infection;
• Dura mater (tough outermost layer of vertebral osteomyelitis, psoas abscess,
meninges) directly in contact with skull soft-tissue infection
• Puss, granulation tissue accumulate • Hematogenous seeding from distant
between dura mater, cranial bone infection
• Dura adheres tightly to skull - limits • Iatrogenic spread due to invasive
expansion - dangerously increases ICP procedures
• Typically caused by Staphylococci/ • Risk factors: old age, invasive spinal
Streptococci reaching dural space procedures, immunocompromised states,
O Direct extension from local infection (e.g. intravenous drug use, most common in
ear/paranasal sinuses) - osteomyelitis thoracolumbar area (epidural space larger,
- abscess formation contains more fat tissue)
O Hematogenous seeding from distant • Complications: recurrent sepsis, spinal cord
infection injury - bladder dysfunction
O Iatrogenic spread due to invasive
procedures
• Risk factors: prior craniotomy, head injury, (__ s,_G_NS_&_S_Y_M_PT_O_M_s_)
sinusitis, otitis media, mastoiditis
• Fever, malaise
• Complications: seizures, increased ICP -
uncal/tonsillar herniation, hemorrhage into • Cranial epidural abscess
abscess, septic shock O Pain/tenderness over abscess site, pus
draining from ear/sinuses, neck stiffness,
Spinal epidural abscess headache, nausea, vomiting
• Spinal epidural space • Spinal epidural abscess (staging follows
O Outermost space within spinal canal clinical progression)
(formed by vertebrae, lying outside dura O Back pain, tenderness, fever
mater) O Radicular pain, reflex abnormalities
° Contains lymphatics, spinal nerve roots, O Sensory abnormalities, motor weakness,
connective tissue, fat, vasculature loss of bowel/bladder control
• Collection of pus/inflammatory granulation O
Paralysis (progresses to irreversible
tissue between dura mater, vertebral paralysis without rapid surgical
column - spinal epidural abscess - intervention)
physical compression, inflammation of
surrounding tissues, spinal cord - local
ischemia
35
(..__ __ D_IA_GN_O_SI_S )
DIAGNOSTIC IMAGING
CT scan with contrast
• Fluid collections in epidural space
MRI with contrast

• Homogeneous enhancement of abnormal
area, liquid abscess surrounded by
inflammatory tissue showing varying
degrees of peripheral enhancement
X-ray
• Osteomyelitis, vertebral collapse
LAB RESULTS
• Blood cultures
O May culture causative organism
• Lumbar puncture contraindicated
O Risk of spreading infection to
subarachnoid space
• CT-guided aspirates/surgically-obtained
fluid
° Culture causative organism Figure 65.5 A histological section of the
( T_R_E~_~_M_EN_T
)
MEDICATIONS
• Initial empirical antibiotic therapy, broad-
spectrum coverage for gram-positive,
gram-negative organisms
O Vancomycin (Gram-positive coverage),
third-generation cephalosporins (Gram-
positive, Gram-negative)
• Targeted antibiotics specific to isolated
organisms
SURGERY
• lntracranial
° Craniotomy - removal of infected bone,
surgical decompression
• Spinal
O Decompressive laminectomy (CT-
guided drainage)
36
MENINGITIS
osmsJI:/ meningi-1:is
( PATHOLOGY & CAUSES )

• Inflammation of meninges surrounding
brain, spinal cord
CAUSES
Bacteria, viruses, fungi, parasites, non-
infectious causes
• Non-infectious: e.g. medications,
autoimmune disease, malignancy
• "Aseptic meningitis"
Figure 65.6 A sample of cerebrospinal
O Don't culture on typical bacterial media
fluid taken from an individual with bacterial
(e.g. viruses, fungi, parasites, non-
meningitis.
infectious causes)
• Acute illness
O Onset: hours, days Microbial spread to CNS
O Likely viral/bacterial causes • Hematogenous spread (from distant site of
• Chronic meningitis infection)
O Onset: weeks, months • Retrograde transport along cranial/
O Likely mycobacteria, fungi, Lyme peripheral nerves (viral illness)
disease, parasitic causes • Contiguous spread from local infections of
• Pyogenic meningitis sinuses, ears, overlying bone
O Most likely bug by age group = Infectiousagents colonize nasopharynx/
O Mnemonic: Explaining Big Hot Neck respiratory tract
Stiffness (in order from birth to death) = Preceding viral infection - breakdown
of normal nasal mucosa I barrier -
colonizing bacteria enter bloodstream -
\ MNEMONIC: Explo.inin9 Sig seeding of subarachnoid space in areas
Hot Neck Stiffness where blood-brain barrier vulnerable
(e.g. choroid plexus)
Causative microorganisms in
meningitis by age group • Traumatic inoculation
E. coli, Group B streptococcus Other sources of inflammation
(infants)
• Significant inflammation not directly due to
Haemophilus influenzae (older bacterial action
infants, kids)
• Presence of bacterial antigens (e.g. cell
Neisseria meningitidis (young wall products) in CNS - recognition by
adults) astrocytes, microglia - cytokine release -
Streptococcus pneumoniae inflammation
(elderly) • Inflammation - increased blood-brain
barrier permeability - vasogenic cerebral
edema
37
Group 8 streptococcus, E. coli,
0 - 4 weeks
l. monocytogenes, Klebsiella

1 - 23 months S. pneumoniae, N. meningitidis,
H. influenza
S. pncumoniae, N. moningitidis,
Children, adults
H. influenzae
Elderly >50 S. pneumoniae. N. meningitidis. L. monocytogenes
HSV-1, -2, VIV,Enteroviruses, Parechoviruses, West Nile virus
Cryptococcus, Coccidioides
Lyme disease, Neurosyphilis, TB
• Extravasation of white blood cells, plasma COMPLICATIONS

into CSF ...... interstitial edema • Cerebral edema, cerebral herniation,
• Immune cell activity (e.g. further cytokine deafness, epilepsy, hydrocephalus,
release, oxidative burst) ---> inflammation of cognitive deficits
walls of blood vessels=- cerebral vasculitis
---> decreased blood flow ---> cytotoxic
edema (__ s,_G_NS_&_S_Y_M_PT_O_M_
• Collectively edema subtypes ---> raised
intracranial pressure • Neonates, children
• Administration of antibiotics ...... greater ° Fever, lethargy, irritability, vomiting, poor
amounts of bacterial antigens (from feeding
dead bacteria) enter CSF---> worsening • Adults
inflammation (initially) n Classic triad (< 50% of cases): sudden
onset headache, fever, nuchal rigidity

RISI( FACTORS O Photophobia, phonophobia (discomfort
• lmmunocompromised individuals, with loud sounds), confusion, vomiting,
unvaccinated individuals (S. pneumoniae, papilledema
H. influenzae Type B) O Brudzinski's sign: passive neck flexion
• Penetrating head trauma ---> pain, involuntary flexion of hips,
knees
• Anatomical meningeal defects (CSF leaks)
° Kernig's sign: resistance to knee
• Contact with colonized/infected individuals
extension when hip flexed to 90°
38
O Jolt accentuation of headache:
headache worsens if individual asked to ( D_IA_GN_O_SI_S
__ )
"jolt" head from side to side in horizontal
plane LAB RESULTS
• Meningococcal meningitis • Lumbar puncture
O Petechial rash; non-blanching , Gram stain; bacterial culture,
when pressure applied; trunk, lower susceptibility; WBC count, differential;
extremities RBC count; glucose, protein
concentration
= Acid-fast bacilli stain in TB endemic
areas/if suspected exposure
= HSV/enterovirus PCR
Cloudy Clear Clear/cloudy Opaque Clear
Normal Normal
50-500
500-10.000 10-100 10-500 100-200
(Neutrophils,
(Neutrophils) (Lymphocytes) (Mononuclear) (Lymphocytes)
monocytes)
! Normal ! !
> 150 > 1000 > 100 50-200
Acid-fast
Gram stain, India ink India ink
PCR assay bacillus stain,
culture stain stain
PCR
• Preemptive treatment to any close

( T_R_E~_~_M_EN_T
__ ) contacts of individuals with meningococcal
meningitis is a single dose of ceftriaxone/
MEDICATIONS rifampin
Prevention Acute bacterial meningitis
• Immunization with meningococcal, mumps, • Empiric antibiotic therapy based on age
pneumococcal, Hib vaccines O If immediate lumbar puncture
performed. obtain sample prior to
antibiotics
39
0 < one week: penicillin (e.g. ampicillin)
+ third-generation cephalosporin (e.g.
cefotaxime)/aminoglycoside
0 1 week-3 months: third-generation
cephalosporin + vancomycin
0 > three months: vancomycin
O Targeted antibiotic therapy
° Corticosteroids: inflammation, cerebral
edema (dexamethasone)
Aseptic meningitis
• HSV, VZV meningitis: acyclovir
• Fungal meningitis (cryptococcal
meningitis): amphotericin B, flucytosine
Figure 65.7 The brain of an individual at post

mortem following death from meningitis.
Removal of the dura mater reveals pus
surrounding the brain.
Figure 65.8 Post mortem histology of the brain and meninges of an individual who died from
acute bacterial meningitis. The zoomed in area demonstrates numerous neutrophils infiltrating
the meninges.
40
NOTES

( PATHOLOGY & CAUSES ) (__ s,_G_NS_&_SY_M_PT_O_M_s_)
• Disorders affecting normative central • Developmental milestones
nervous system (CNS) development/ O Not met
function • Motor dysfunction
• Varying severity, intensity O Ataxia, paresis, unsteady gait, speech
impairment, poor coordination
CAUSES • Dysautonomia
• Primary • Intellectual disability
O Genetic mutation/idiopathic O Learning/memory issues
• Secondary • Dementia
O E.g. trauma, infection, neoplasm,
environmental factors
( D_IA_GN_o_s,_s __ )
RISI( FACTORS DIAGNOSTIC IMAGING
• Cerebral ischemia, delivery trauma, • CT scan, MRI
premature birth, teratogenic substance
exposure (prenatal)
• Supportive structure (bone, connective OTHER DIAGNOSTICS
tissue) malformation ----> physically obstructs • Neurological exam
CNS development
( T_R_E~_~_M_EN_T__ )
• Mostly supportive
SURGERY
• In some cases; see individual disorders
41
ARNOLD-CHIARIMALFORMATION
osms.i"l/ o.Tnold-ehio.Ti-mo.lfoTmo.-lion

)
• Insufficient posterior fossa growth - • Nausea, vertigo, nystagmus, unsteady gait
developmental cerebellum, brainstem, • Lumbosacral/thoracic myelomeningocele
craniocervical junction malformation presence
• Affects cerebellar structure, position • Medulla oblongata compression -
• AKA Chiari malformation type II (types I, 111, dysautonomia (! j heart/breathing rate,
IV-no specific name) neurogenic bladder, sleep apnea, pupillary
• Chiari malformations: similar presentations, dilation, etc.)
different mechanism development • Paralysis/dysesthesia below spinal
• Accompanying findings: aqueductal compression
stenosis, upward cerebellar displacement, • Valsalva maneuver - symptoms worsen
cerebellar dysplasia (increased intracranial pressure)
• Cerebellar tonsil protrusion through
foramen magnum
• Associations: lumbosacral (..____ D_IA_GN_O_SI_S
)
myelomeningocele, Pierre Robin syndrome,
neurofibromatosis type I, Noonan syndrome DIAGNOSTIC IMAGING
• Commonly accompanies spina bifida CT scan, MRI
• Findings include presence of
RISI( FACTORS myelomeningocele, cerebellar tissue
• Hydrocephalus (congenital/acquired) (downward displacement) through foramen
magnum, small fourth ventricle, tectal
• Ehlers-Danlos syndrome, Marfan syndrome
beaking, atlas assimilation
- craniocervical joint instability -
cerebellar tonsil displacement
• Posterior cranial fossa malformation OTHER DIAGNOSTICS
(agenesia, craniosynostosis, osteopetrosis) • Neurological exam
• Posterior cranial fossa pathology (tumor,
abscess, cyst, hematoma)
( T_R_E~_~_M_EN_T
)
COMPLICATIONS SURGERY
• Aqueductal stenosis - impaired CSF flow
• Open neural tube defect closure
- non-communicating hydrocephalus -
lateral, third ventricle dilatation • Shunt placement (relieves hydrocephalus)
• Fourth ventricle obstruction - non- • Bone removal (! brain structure pressure)

communicating hydrocephalus - aqueduct
dilatation; lateral, third ventricles OTHER INTERVENTIONS
• Brainstem, spinal cord compression • Address complications: neurogenic
• Syringomyelia (hydrocephalus - bowel, bladder; neonatal feeding difficulty;
distention, dilation of spinal cord's central respiratory failure, apnea
canal)
42
Figure 66.1 An MRI scan of the head in
the sagittal plane of an individual with an
Arnold-Chiari malformation. There is a small
posterior fossa and partial descent of the
brainstem and the cerebellar tonsils through
the fora men magnum.
CEREBRAL PALSY (CP)

osmsJl/ eel9e bl90.l-po.ls14
CAUSES
( PATHOLOGY & CAUSES ) • Primary: genetic (autosomal recessive
glutamate decarboxylase-1 deficiency)
• Wide disorder group; non-progressive
• Secondary: preterm birth (most common
cerebral lesions impair motor, postural
cause), CNS injury, intrauterine growth
function/muscle tone
restriction, intrauterine infection,
• Most common motor disorder, 2.1 per 1000 antepartum hemorrhage, severe placental
babies affected, ages 0-3 years
pathology, multiple pregnancy
• Varying severity, complexity
• Often accompanied by mental function
impairment, epilepsy
RISI( FACTORS
• Prenatal/perinatal
° CNS trauma (pregnancy/birth)
\ MNEMONIC: PALSY = Cerebrovascular insult (infarction,
Main characterist
cs of CP thrombosis, hypoxic-ischemic injury)
Paresis = CNS infection
Ataxia
O Radiation exposure
Lagging motor development
O Methylmercury/alcohol (prenatal
exposure)
Spasticity
= Maternal smoking/obesity
Young
O Infections during pregnancy
43
• Postnatal
O Stroke, CNS trauma, hypoxia (drowning), (..___s,_G_NS_&_SY_M_P_TO_M_
)
sepsis/meningitis, kernicterus
• Motor symptoms (type-dependent)
O Paresis, ataxia, spasticity, irregular
posture, orthopedic contracture,
scoliosis, seizure, neurogenic bladder/
bowel, impaired vision/speech, difficulty
feeding/swallowing
poor movement dystonia, Mixed

spasticity
coordination chorea
Upper motor neuron Cerebellum Basal ganglia Mixed
( D_IA_GN_o_s,_s ) ( T_R_EA_:t"_M_EN_T )
DIAGNOSTIC IMAGING • No definitive treatment
CT scan, MRI
• Type-dependent MEDICATIONS
O Hypoxic-ischemic lesions (e.g. • Benzodiazepines - myorelaxation, anxiety
relief
periventricular leukomalacia/basal
ganglia lesions); cortical malformation; • Spasmolytics - muscle-spasticity relief
hydrocephalus • Anticonvulsants - seizure treatment,
prevention
Ultrasound
• Pain medication
• In young infants with open anterior
fontanelle
SURGERY
• Posture correction
OTHER DIAGNOSTICS
• Neurological exam
• Diagnostic tests
OTHER INTERVENTIONS
O Differentiate
• Physical, occupational, speech therapy
from other motor
dysfunction disorders (e.g metabolic • Posture correction
disorders, stroke, hydrocephalus, , Braces/other orthotic devices
hematomas)
44
DANDY-WAL~ERSYNDROME
(DWS)
osmsJl/ do.nd14-Wo.llcer-mo.lformo.-lion
CAUSES
( PATHOLOGY & CAUSES ) • Genetic, environmental factors
O Meckel syndrome
• Neurodevelopmental disorders; affect
cerebellar vermis, fourth ventricle ° Chromosomal aneuploidy (e.g. 45X,
triploidy)
• Classical triad
O Rubella infection/warfarin exposure
O Vermis hypoplasia/agenesis, cystic
during pregnancy
dilatation (fourth ventricle), posterior
fossa enlargement
O Maternal alcohol consumption
• Accompanying disorders (wide range) ° Congenital heart defect
° Cortical dysplasia, syringomyelia,
O Neural tube defect
schizencephaly, corpus callosum O Holoprosencephaly
dysgenesis, cleft palate, etc.
• Associated with posterior fossa COMPLICATIONS
malformations-hemangiomas-
• Foramina (Magendie, Luschka) atresia -
arterial anomalies-cardiac defects- hydrocephalus
eye abnormalities-sternal cleft and
supraumbilical raphe syndrome (PHACES)
MNEMONIC: OWS • Macrocephaly, developmental milestones
Componentsof DWS not met (mental, motor), impaired motor
Dilated 4th ventricle coordination, unsteady gait, seizure, lower
Water on the brain limb spasticity, eye/ear involvement (rarely)
Small vermis
CLASSIFICATIONOF
DANDV-WALICER MALFORMATION
PATHOLOGY
Posterior fossa enlargement. elevated tentorium, vermis agenesis,

cystic dilatation (fourth ventricle)
MALFORMATION
Often accompanied by spina bifida, hydrocephalus
VARIANT Hypoplastic vermis, posterior fossa enlargement, fourth ventricle dilated
MEGA CISTERNIA Posterior fossa enlargement, cisterna magna enlargement, hypoplastic vermis
fourth ventricle dilated
MAGNA
45
(..__ __ D_IA_GN_O_SI_S ) (..__ __ T_R_E~_~_M_EN_T
)
MRI, prenatal ultrasound

• Characteristic findings SURGERY
° Cerebellar vermis agenesis/hypoplasia, Ventricular-peritoneal shunt
cystic dilatation (fourth ventricle), • Manages hydrocephalus
posterior fossa enlargement;
hydrocephalus, absent corpus callosum
may also be present OTHER INTERVENTIONS
• Physical, occupational therapy
LAB RESULTS
• Amniocentesis
Figure 66.2 An MRI scan of the head in the

sagittal plane demonstrating a Dandy-Walker
malformation in a one-year-old boy. There is
accompanying gross hydrocephalus.
46
NORMAL PRESSURE
HYDROCEPHALUS(NPH)
osms.i"l/noTmo.1- TessuTe-h14dToee helus
OTHER DIAGNOSTICS
( PATHOLOGY & CAUSES ) • High-volume lumbar puncture/lumbar drain
trial
• Cerebrospinal fluid (CSF) accumulatlon=-.
= Improved functionality with CSF removal
progressive lateral ventricle enlargement
• AKA Hakim's syndrome
• lntracranial pressure (ICP) not normal
(name is misnomer)
( T_R_E~_~_M_EN_T )
CAUSES SURGERY
• Slight-moderate elevation ----. classical t ICP • In some situations
symptoms (nausea, vomiting, photophobia,
neck pain, stiffness) not evident Ventriculoperitoneal shunt
• j CSF ----. j ICP ----. lateral ventricle dilation • l ICP relief

----. pressure on corona radiata
O Urinary incontinence), brainstem
structure (magnetic gait), periventricular
limbic system (dementia)
• ldiopathidsecondary
Cerebrovascular insult, meningitis,
°
trauma. tumor
RISI( FACTORS
• Prevalence largest among elderly (common
onset approx. 60 years old)
(__ s,_G_NS_&_S_Y_M_PT_O_M_s_)
• Unsteady gait
O Described as magnetic or "glue-footed"
• Urinary incontinence
• Cognitive impairment
sagittal plane demonstrating hydrocephalus.
There is a prominent flow void in the sylvian
aqueduct, suggesting a normal-pressure
( D_IA_GN_o_s,_s __ ) hydrocephalus.
DIAGNOSTIC IMAGING
MRI/CT scan
• Ventriculomegaly, enlarged Sylvian fissures,
enlarged sulci with no cortical atrophy
47
RETT SYNDROME
osms.i"l/ Te-H-s14ndTome
RISI( FACTORS
(__ P_AT_H_O_l_OG_Y_&_C_A_U_S_Es
) • Young, individuals who are biologically
female
• Rare neurological disorder, impairs motor
• Extraordinarily, individuals who are
function (eating, walking, talking, breathing)
biologically male with Klinefelter syndrome
• AKA cerebroatrophic hyperammonemia (XXY), otherwise fatal for biologically-male
• Associated with prolonged QT syndrome (XY) individuals
CAUSES COMPLI CATIONS

• X-linked autosomal dominant MeCP2 gene • Growth failure
mutation (spontaneous) • Seizure
• MeCP2 protein involved in forming • Fractures (related to! bone mineralization)
neuronal connections, when only one gene
• Cardiac abnormalities; e.g. prolonged QTc
is mutated, the other one can compensate
interval
to a degree
• Autonomic nervous system dysfunction
• Sleep disturbances
• Behavioral issues; e.g. clapping, "pill-rolling"
(due to extrapyramidal motor defects)
CLASSIFICATIONOF RETT SYNDROME

AGE SYMPTOMS
EARLY ONSET 6-18 months Decreased playfulness. eye contact reduced/absent

(STAGEI)
Massive speech/motor skill reduction,
RAPID repetitive hand movement (dapping/clasping),
DETERIORATION 1-4 years
hyperventilation/breath-holding,
(STAGE II) acquired microcephaly
PLATEAU
(PSEUDO- 2-10 years t attention span, eye contact, seizures, apraxia
STATIONARY)
(STAGE Ill)
LATE MOTOR Progressive muscle weakness, rigidity, spasticity, scoliosis.

DETERIORATION 10 years-life
cognitive stability
(STAGEIV)
48
) ( T_R_EA_~_M_EN_T
)
• Manifests after six months old - later, • No definitive treatment
divided into four stages
MEDICATIONS
( D_IA_GN_O_SI_S) • SSRI (behavioral issues)
LAB RESULTS OTHER INTERVENTIONS

• Genetic test • Occupational, speech, physical therapy
o MeCP2 mutation • Nutritional support for fracture reduction
OTHER DIAGNOSTICS
• Clinically diagnosed (characteristic findings)
O Loss of acquired purposeful hand skills,
spoken language
O Gait abnormalities
O Stereotypic hand movements
SEPTO-OPTICDYSPLASIA (SOD)
osms.i"l/ se -lo-o -lie-cJ.14s le1sie1
( PATHOLOGY & CAUSES ) (__ s,_G_Ns_&

__sv_M_PT_O_M_s_)
• Congenital malformation triad • Nystagmus
O Underdeveloped optic nerve, • Visual impairment
hypopituitarism, absent septum • Intellectual impairment
pellucidum • Seizure
• AKA de Morsier syndrome • Growth hormone deficiency - short
• Most individuals have two of three stature, hypoglycemia, micropenis (if
components. some present with all three biologically-male)
• May also have encephalomalacia, • Vasopressin deficiency - diabetes
schizencephaly, ectopic pituitary tissue insipid us
• Hyperprolactinemia
CAUSES • Hyperbilirubinemia - jaundice
• Genetic
O Spontaneous/inherited HESX1. OTX2,
SOX2. PAX6 mutation ( D_IA_GN_o_s,_s __ )
• In utero sodium valproate, cocaine exposure
DIAGNOSTIC IMAGING
MRI
• Optic nerve hypoplasia, septum pellucidum,
corpus callosum agenesis
49
LAB RESULTS
Genetic testing
• HESXl, OTX2, SOX2, PAX6 mutations
OTHER DIAGNOSTICS
( T_R_EA_~_M_EN_T__ )
MEDICATIONS
• Hormone replacement therapy
• Anticonvulsants c- seizure treatment,
prevention
OTHER INTERVENTIONS Figure 66.4 An MRI scan of the head in the

coronal plane of an individual with septo-
• Treat complications
optic dysplasia. The septum pellucidum,
O Ophthalmic, physical, and occupational
which normally separates the two lateral
therapy
ventricles, is absent.
SPINA BIFIDA
osmsJl:/ spino.-\>ifido.
( PATHOLOGY & CAUSES ) RISI( FACTORS

• Multifactorial
• Congenital spinal column, meninges , Genetic, environmental factors
malformation
• Pregnancy
• Most common neural tube defect
, Folate deficiency, anticonvulsant use
• Improper vertebrae formation allows
• Obesity
meninges/spinal cord to protrude dorsally
• Poorly-managed diabetes mellitus
out of spinal canal
• Occurs in fourth week of pregnancy
• Usually manifests in lumbar part of spinal COMPLIC ATIONS
column (can occur elsewhere) • Meningitis; neurogenic bladder, bowel;
• Most individuals with spina bifida have nerve damage paralysis; tethered cord
latex allergy (complicates medical syndrome; cognitive impairment; pressure
procedures) ulcer; seizure; hydrocephalus; orthopedic
problems
• Some individuals with spina bifida have
intellectual impairment
• Can present with Arnold-Chiari
malformation
(__ SI_G_NS_&_S_Y_M_PT_O_M_
• Associated with malformed corpus • Lower-back pain, hip dysplasia, dysesthesia
callosum, cerebellum, cerebral cortex (below lesion), leg weakness, nystagmus,
clubfoot, scoliosis
50
The meninges. spinal cord Meninges herniate through opening.
do not protrude lining entire malformation and forming
from spinal canal a CSF-filled sac

repetitive hand movement
MENINGOCELE 1-4 years (clapping/clasping),
acquired microcephaly
Improper vertebrae formation,
2-10 years
Meninges, spinal cord herniate
through opening
MYELOCELE Improper vertebrae formation,

(AKA OPEN SPINA 10 years-life
BIFIDA) Spinal cord completely exposed
OTHER INTERVENTIONS
( D_IA_GN_O_SI_S
__ ) • Resolve complications
= Seizure, hydrocephalus, orthopedic
DIAGNOSTIC IMAGING
problems
Prenatal ultrasound • Physical therapy
X-ray, CT scan, MRI

• Show improper vertebral formation
LAB RESULTS
• i alpha-fetoprotein
O Spina bifida occulta does not show j
• Genetic tests
OTHER DIAGNOSTICS
• Visual examination
O Visible meningocele, myelomeningocele
at birth
C T_R_E~_~_M_EN_T
__ )
SURGERY Figure 66.5 An individual with spina bifida
• Reposition meninges, spinal cord into spinal and a an associated myelomeningocoele, also
canal known as spina bifida cystica.
51
SYRINGOMYELIA
osms.i"l/ s14 Tingom14elie1
( PATHOLOGY & CAUSES ) ( T_R_E~_~_M_EN_T

)
• Cerebrospinal fluid-filled cyst around spinal SURGERY
cord's central canal • Cyst drainage; flow restoration
• Cyst in nerve tissue (syrinx); spinal cord
(myelia)
O E.g. brainstem syrinx (syringobulbia)
• As cyst forms, grows - fluid collects within
spinal cord tissue - I pressure within
spinal cord - damage
• Symptoms progress slowly, often adult
diagnosis
RISI( FACTORS
• Congenital: Arnold-Chiari malformation,
genetic mutation
• Acquired: trauma; spinal cord tumor,
bleeding; scoliosis
)
• Various locations, syringomyelia severity
• Chronic pain, dysesthesia, paresis/paralysis Figure 66.6 An MRI scan of the head and
neck in the sagittal plane demonstrating
• Suspended sensory level
O Sensory
syringomyelia extending from approximately
perception defect only on body
the level of C4 to T3. There is also a Chiari I
parts innervated by syringomyelia-
malformation.
affected structures
( D_IA_GN_O_SI_S
)
DIAGNOSTIC IMAGING
MRI
• Syrinx visualization in spine
OTHER DIAGNOSTICS
Neurological exam
• For suspended sensory level
52
TETHERED SPINAL CORD
SYNDROME (TCS)
osmsJl/-le-lhel9ed-spino.l-eol9d-s14nd l9ome

• Pathological spinal cord fixation to spinal
canal wall
• AKA occult spinal dysraphism sequence
• Spinal cord movement restricted
, Normally, spinal cord floats freely in CSF
, TCS: restricted movement - physical
strain - spinal cord damage
CAUSES
• Primary: congenital short filum terminale
• Secondary: surgery/trauma - scar tissue
attachment; (myelo)meningocele
( SIGNS & SYMPTOMS ) Figure 66.7 An MRI scan of the spine in

the sagittal plane demonstrating a tethered
spinal cord associated with a lipoma of the
• Lower-back pain, scoliosis. clubfoot, filum terminale.
neurogenic bladder, bowel, paresis/
paralysis below lesion
( T_R_EA_~_M_EN_T
)
( D_IA_GN_O_s,_s)
SURGERY
DIAGNOSTIC IMAGING • Relieve spinal cord strain (if possible)
• Corrective orthopedic surgery
Spinal MRI
• Conus medullaris located below the normal
L2-3 level OTHER INTERVENTIONS
• Physical therapy
OTHER DIAGNOSTICS
53
NOTES
NOTES
•• CNS DEMYELINATING
DISORDERS
c PATHOLOGY & CAUSES ) c DIAGNOSIS )

• Disorders affecting brain, spinal cord; DIAGNOSTIC IMAGING
damage to oligodendrocytes ----> loss of
myelin, axons CT scan, MRI
• Damage mostly caused by autoimmune • Abnormal signals in white matter regions
reaction
O Inflammatory cells release cytotoxic LAB RESULTS
molecules/engulf cells • Cerebrospinal fluid (CSF)
• Trigger unknown , j cell count, j protein level
RISI( FACTORS OTHER DIAGNOSTICS

• Genetic predisposition • Neurologic symptoms
• Environmental factors (e.g. infections)
c SIGNS & SYMPTOMS ) c TREATMENT )

MEDICATIONS
• Motor: weakness, tremors, paraparesis/ • Reduce inflammation (e.g. corticosteroids)
quadriparesis
• Sensory: abnormal sensations. numbness,
visual problems
OTHER INTERVENTIONS
• Plasma exchange
• Autonomic: sphincter, sexual dysfunction
• Manage symptoms
54
ACUTE DISSEMINATED
ENCEPHALOMYELITIS
osms.i-l/ cieu-le-diss-eneephcilom14eli-lis

• Autoimmune disease characterized by • Sudden onset of symptoms 1-3 weeks
sudden inflammation of brain, spine; after interaction with pathogen
destruction of myelin sheath at multiple • Systemic inflammation (fever, headache,
locations nausea, vomiting)
• Sensory, visual deficits
Type IV hypersensitivity reaction
• Seizures, confusion, drowsiness
• Cell-mediated
• Motor deficits, weakness, ataxia
• T-cells penetrate blood brain barrier,
activated by myelin antigens (myelin • Oculomotor deficits, nystagmus, dysarthria
basic protein, proteolipid protein, myelin • Coma
oligodendrocyte protein) - release of
cytokines (IL-1, IL-6, TNF-alpha, interferon-
gamma) ( D_IA_GN_O_s,_s
__ )
O Direct damage to oligodendrocytes,
myelin DIAGNOSTIC IMAGING
O Blood brain barrier expresses more MRI
receptors - attracts more immune cells
• Multiple lesions in white matter regions of
(B-cells, macrophages) - blood vessel
central nervous system (CNS)
dilatation
• Open ring sign with contrast enhancement
• B-cell activation - production of
autoantibodies against myelin proteins • Edema
• Macrophages look for antibody marked CT scan
oligodendrocytes, destroy them
• Emergency cases
• Low density lesions in white matter region
CAUSES
• Antigen mimicry
LAB RESULTS
O Antibodies aimed against pathogen
• Lumbar puncture
antigens bind to myelin proteins
O j protein, j cell count (lymphocytes),
high level of antibodies, CSF culture
RISk FACTORS
• Genetic predisposition
OTHER DIAGNOSTICS
• Infections
• Clinical
O Viral (measles, mumps, rubella); O Polyfocal neurologic symptoms,
bacterial (Mycoplasma pneumoniae,
encephalopathy
beta-hemolytic Streptococci)
• Microscopically
• Vaccination
O All lesions similar, preserved axons with
O Measles-mumps-rubella (MMR)
myelin loss, mononuclear infiltration,
vaccination
foamy macrophages
• Usually affects children
55
(..____ T_R_E~_~_M_EN_T
)
MEDICATIONS
• Corticosteroids
, Reduce inflammation
, E.g. glucocorticoids
• Cyclophosphamide
= Cell cycle inhibition
OTHER INTERVENTIONS
• Intravenous immune globulins
, Neutralize antibodies
• Plasma exchange
Figure 68.1 An MRI scan of the head of

an individual with acute disseminated
encaphalomyelitis. There are bilateral,
asymmetrical, tumefactive lesions of the
cerebral white matter.
CENTRAL PONTINE MYELINOLYSIS

osmsJl/ een-lTo.1- on-line-m14elinol14sis
, Potassium, sodium surge back into
( PATHOLOGY & CAUSES ) astrocytes ----> j cation concentracion
, Shrinkage of endothelial cells ---->
• Destruction of myelin sheath around nerve
distortion of blood brain barrier e-
cells in pons due to rapid osmotic changes complements, cytotoxic elements form
(osmotic demyelination syndrome)
blood leak into brain
• ! sodium level in serum ----> water leakage • Damage astrocytes, induce apoptosis
through blood brain barrier e- j brain
, Interruption of myelin-making process in
volume
oligodendrocytes
• Activation of defense mechanisms
O Release of cytokines
O After few minutes: j intracranial
O Activation of microglia
pressure pushes excess water, sodium
into CSF----> ! brain volume
O After few hours: astrocytes release RISI( FACTORS
organic solutes ----> release of excess • Sodium level< 120meq/L
intracellular water v- evening osmolarity • Hyponatremia lasts > two days
with serum
• Syndrome of inappropriate diuretic
O After two days: fully adapted to altered hormone (SIADH)
osmolarity , Kidneys retain too much water
• Sudden correction of hyponatremia in
• Alcoholism, malnutrition
already adapted brain
56
COMPLICATIONS
• Respiratory failure, aspiration pneumonia,
( T_R_E~_~_M_EN_T
__ )
coma, death
OTHER INTERVENTIONS
• Correcting serum sodium slowly
(__ s,_G_NS_&_S_Y_M_PT_O_M_s_) • 6-8 weeks; endotracheal intubation,
ventilator support
• Movement disorders
• Paraparesis/quadriparesis
• Severe cases
0 "Locked-in" syndrome (conscious,
paralyzed; can only move eyes, blink)
• Dysarthria, dysphagia, diplopia
• Seizures, confusion, lethargy, coma
( D_IA_GN_o_s,_s __ )
DIAGNOSTIC IMAGING
MRI
• Earliest changes seen in diffusion weighted
imaging (DWI)
O Restriction in pons region
• Later changes
O High T2, low Tl signal
0 "Trident sign" (trident spear-shaped Figure 68.2 An MRI scan of the head and
lesion in pons) neck in the sagittal plane demonstrating
a hypointense lesion in the pons of an
CT scan individual with central pontine myelinolysis.
• Low sensitivity; low attenuation signal in
pons
PET
• Initial high uptake
57
MULTIPLE SCLEROSIS (MS)
osmsJl/ muH:i le-seleresls
years apart
( PATHOLOGY & CAUSES ) , Improvement after attack
, Residual permanent damage
• Autoimmune demyelinating disease
accumulates
of nerve cells in brain, spinal cord
characterized by various neurological , Disabilities do not increase between
disorders bouts
• Cell-mediated (Type IV) hypersensitivity • Secondary progressive multiple sclerosis
reaction (SPMS)
, T cells, B cells, macrophages , Starts as RRMS
, Over time attacks become constant -
Tcells progression of disabilities
• Break through blood brain barrier - • Primary progressive multiple sclerosis
activated by myelin proteins (myelin basic (PPMS)
protein)
, One constant attack - progression of
• Th 17 cells produce cytokines - attract disabilities over lifetime
other leukocytes • Progressive-relapsing multiple sclerosis
• Thl cells produce interferon gamma - (PRMS)
activation of macrophages O One constant attack
• Produce cytokines (IL-1, IL-6, TNF-alpha) O Superimposed bouts - faster
, Oligodendrocytes damaged progression of disabilities
, Blood brain barrier expresses more
receptors for other leukocytes
RISI( FACTORS
, Blood vessels dilate; easier passage for
• Genetic
other leukocytes
, Individuals who are biologically female
B cells twice as susceptible
• Produce antibodies that bind to myelin , Polymorphisms of certain alleles of
proteins, mark them major histocompatibility complex (e.g.
HLA-DR2; identifying, binding of foreign
Macrophages molecules)
• Recognize marked oligodendrocytes, engulf • Environmental
them O Infections (e.g. Epstein-Barr virus
• Attacks infection)
, Early: regulatory T cells reduce O Vitamin D deficiency
inflammation - oligodendrocytes heal, • Usually affects young adults
renew myelin (remyelination)
, Later: repetitive extensive damage -
death of oligodendrocytes - loss of MNEMONIC: MS MS
myelin - damage, loss of axons Pathology of multiple
sclerosis
TYPES Multiple Sclerosis affects
• Relapsing-remitting multiple sclerosis Myelin Sheath
(RRMS)
, Bouts of autoimmune attacks, months/
58
OTHER DIAGNOSTICS
) • Clinical
= Neurologic symptoms with relapsing-
• Charcot's neurologic triad
remitting course
O Dysarthria, nystagmus, intention tremor
• Visual evoked potential
• Lhermitte's sign
= Measure response to visual stimuli
O Bending neck forward ----> electric shock
runs down back, radiates to limbs
• Higher order activities
O Poor concentration, critical thinking;
depression, anxiety
Plaque location
• Brainstem
° Conscious movements (e.g. difficulty
talking/eating)
O Unconscious movements (e.g. difficulty
swallowing)
• Eye nerves
O Optic neuritis (e.g. loss of vision)
O Eye movement nerves (e.g. double
vision)
• Motor pathways
O Muscle weakness, spasms, tremors,
ataxia, paralysis
the sagittal plane demonstrating multiple
• Sensory pathways
demyelinating plaques adjacent to the corpus
O Numbness; pins, needles; paresthesias callosum. This radiological sign is known as
(tingling, itching, burning) Dawson's fingers and is specific for multiple
• Autonomic nervous system sclerosis.
Constipation, urinary incontinence,
°
sexual dysfunction
(.____ D_IA_GN_O_SI_S
)
DIAGNOSTIC IMAGING
MRI
• Hypointense Tl, hyperintense T2 lesions
• ~ one lesions in periventricular,
juxtacortical, infratentorial, spinal cord
• Gadolinium-enhanced, nonenhanced
lesions simultaneously
• Dawson's fingers
O Plaques radiating outwards from corpus
callosum in sagittal images
LAB RESULTS Figure 68.4 An MRI scan of the head in

• CSF the axial plane demonstrating the multiple
O High levels of antibodies demyelinating plaques present in the brain of
an individual with multiple sclerosis.
59
• Progressive MS
(..____ T_R_E~_~_M_EN_T
) , Manage symptoms (e.g. urinary
incontinence), physical therapy,
MEDICATIONS cognitive rehabilitation therapy,
• RRMS vitamin D
Corticosteroids, cyclophosphamide,
°
intravenous immunoglobulin
OTHER INTERVENTIONS
• RRMS
O Plasmapheresis: removing antibodies
O lmmunosuppressants
TRANSVERSE MYELITIS
osms.i"l/-lro.nsverse-m14eli-lis
( PATHOLOGY & CAUSES ) C__s,_G_Ns_&_s_v_M_PT_O_M_s

• Rare immune disorder affecting spinal cord; • Motor: extremity weakness=- para paresis
causes acute motor, sensory, autonomic • Sensory: abnormal sensations, numbness,
defects pain
• Perivascular inflammation (monocytes, • Autonomic: sphincter, sexual dysfunction
lvmphocvtesr-e damage to
oligodendrocytes ----. loss of myelin sheath
around axons----. loss of axons, neurons ( DI_A_GN_o_s,_s
__ )
TYPES DIAGNOSTIC IMAGING
• Acute partial
MRI
O Asymmetric dysfunctions
• Hypointense/isointense Tl, hyperintense
0 1-2 segments involved
T2 signal
• Acute complete
• Abnormal contrast enhanced signal on :::::
O Symmetric dysfunctions one segment
0 1-2 segments involved • Spinal cord swelling
• Longitudinally extensive
O Symmetric/asymmetric dysfunctions LAB RESULTS
0 > two segments involved
• CSF
, j cell count (lymphocytes). j protein
RISI( FACTORS level
• CNS, systemic infections
• CNS disease (e.g. multiple sclerosis) OTHER DIAGNOSTICS
• Clinical
, Motor, sensory, autonomic defects
60
( T_R_E~_~_M_EN_T
)
OTHER INTERVENTIONS
• Intravenous glucocorticoids
• Plasma exchange
Figure 68.5 An MRI scan of the spine in

the sagittal plane demonstrating increased
T2 signal uptake in the spinal cord, typical
of transverse myelitis, extending from C7
downwards and ending at T12 (not shown).
61
NOTES
NOTES
• • CONGENITAL MYOPATHIES
• Inherited, progressive myopathic disorders • Motor development milestone delays (e.g.
caused by genetic dystrophin gene walking)
mutation (dystrophinopathies) • Progressive limb, girdle weakness
• Duchenne and Becker's muscular • Gowers' sign
dystrophy (most common types) , Weak hips, upper legs - using arms to
OX-linked recessive inheritance pattern help stand
• Dystrophin protein • Waddling gait
O Normally links intracellular actin, • Musculoskeletal abnormalities (e.g. calf
dystrophin-associated protein complex pseudohypertrophy, scoliosis, contracture)
to extracellular matrix to stabilize • Progressive mobility impairment
sarcolemma
• Genetic defect - misshapen/absent
dystrophin protein - weak sarcolemma, ( D_IA_GN_O_s,_s
__ )
cell damage - creatine kinase escapes
from/calcium enters damaged cell - • See individual myopathies
cell death - muscle degeneration -
progressive weakness
( T_R_E~_~_M_EN_T
__ )
• See individual myopathies
BECl(ER'S MUSCULAR DYSTROPHY
MNEMONIC: SMD
( PATHOLOGY & CAUSES ) Cause of Becker's Muscular
Dystrophy
• Caused by misshapen dystrophin gene due
Badly
to missense mutation
Made
O See mnemonic: BMD
Dystrophin (truncated protein)
COMPLICATIONS
• Rapidly progressive heart failure,
arrhythmia
62
(..____ T_R_E~_~_M_EN_T
(..___SI_G_NS_&_SY_M_P_TO_M_s
) __ )
• Milder form, later onset than Duchenne • No cure
muscular dystrophy
• Symptoms appear 10-20 years old MEDICATIONS
• Intellectual disability, contractures not as • Glucocorticoids to slow muscle
common/severe as Duchenne muscular degeneration
dystrophy
• Cardiac fibrosis may be predominant
presentation feature OTHER INTERVENTIONS
O Starting with right ventricular • Vitamin D, calcium supplements support
involvement, left ventricular dysfunction bone health
later • Physical therapy, conditioning
• Complication management
)
LAB RESULTS
• j serum creatine kinase
• Mutations in dystrophin by DNA test/
Western blot
• Muscle biopsy
O Stain for dystrophin
DUCHENNE MUSCULAR
DYSTROPHY
osmsJl/ duehenne_museulo.T _d14s-lToph14
COMPLIC ATIONS
( PATHOLOGY & CAUSES ) • Wheelchair needed for rnobilitv-» scoliosis
OScoliosis ----> poor pulmonary function
• Caused by absent dystrophin gene due to
nonsense/frameshift mutation • Weak diaphragm ----> respiratory failure (may
develop)
O See mnemonic: DMD
• Fibrosis progression in dilated
cardiornyopathv-» mitral regurgitation
\ MNEMONIC: DMD (may develop)
Cause of Duchenne Muscular • Dilated cardiomyopathy (late stages) ---->
Dystrophy heart failure, arrhythmias (may develop)
Doesn't • Falling ----> arm, leg fractures
Make
O Vertebral compression fractures with
glucocorticoid therapy
Dystrophin
• Respiratory insufficiency/cardiomyopathy
----> death (late teens, early twenties)
63
)
• More severe dystrophinopathy form
• Symptoms appear by five years old;
weakness usually occurs 2-3 years old
• Walking begins later in childhood; may
have slow, ungainly run; difficulty jumping,
walking up steps
• Proximal-limb muscle weakness before
distal, lower extremities before upper
• Gowers' sign
• Waddling gait, calf pseudohypertrophy Figure 69.1 A muscle biopsy from an
individual in the later stages of Duchenne
• Decreased mobility
muscular dystrophy. The myocyte
O May lead to independent ambulation
hypertrophy is even more pronounced and
impairment, wheelchair-use by 12 years
there is marked fatty replacement of the
old (usually)
muscle.
• Primary dilated cardiomyopathy,
conduction abnormalities
C T_R_E~_~_M_EN_T
__ )
• No cure
MEDICATIONS
• Glucocorticoids to slow muscle
degeneration
OTHER INTERVENTIONS
• Vitamin D, calcium supplements support
bone health
• Physical therapy, conditioning
Figure 69.2 A muscle biopsy from an

individual in the early stages of Duchenne
muscular dystrophy. There is variation in
myocyte size with small atrophic myocytes
juxtaposed with large, rounded hypertrophic
myocytes. There is intervening fibrosis.
C D_IA_GN_o_s,_s
__ )
LAB RESULTS
Western blot
Figure 69.3 A histological section of muscle
• Muscle biopsy
showing complete fibrofatty replacement in
O Stain for dystrophin end stage Duchenne muscular dystrophy.
64
NOTES
NOTES
• • CORTICAL DISORDERS
)
• Cortical structure damage in brain ----> DIAGNOSTIC IMAGING
functional regional-specific impairment • CT scan, MRI, single-photon emission
computerized tomography (SPECT),
positron emission tomography (PET)
CAUSES
• Stroke (common), hemorrhage, infection,
tumor, trauma, surgery, degenerative LAB RESULTS
disease (e.g. Broca's aphasia, Wernicke's • Cerebrospinal fluid (CSF) analysis
aphasia, Kluver-Bucy syndrome)
OTHER DIAGNOSTICS
• Functional assessment
• Affected brain region dependent
• Broca's aphasia
O Expressive nonfluent aphasia ( T_R_E~_~_M_EN_T
__ )
• Wernicke's aphasia
OTHER INTERVENTIONS
O Receptive fluent aphasia • Address underlying cause
• Kluver-Bucy syndrome
O Amnesia, compulsive eating,
hypersexuality MNEMONIC: MD vs. DPM
Cortical brain
Memory Discrimination
Subcortical brain
Devoid of seizure
Primary sensation through
thalamus
Movement disorders (most)
65
BROCA'S APHASIA
osms.i-l/\>Toee1s-e1phe1sie1
• Broca's area: anterior to primary motor
( PATHOLOGY & CAUSES ) cortex, damage to adjacent areas
- individual may have associated
• Aphasia contralateral hemiparesis, hemisensory loss
O Language loss/defect (speaking, fluency,
reading, writing, comprehension)
O Injury to brain's language centers - C D_IA_GN_O_SI_S
__ )
different aphasia types
O Most lesions involve dominant DIAGNOSTIC IMAGING
hemisphere (left in 95% of right-handed • Findings vary by underlying aphasia cause
individuals, right in 50% of left-handed , May include evidence of bleeding/
individuals) hypodensities (stroke); mass effect,
• Broca's aphasia overt tumors (cancer)
O Broca's area: responsible for language , Functional imaging will reveal regional
comprehension perfusion deficits
O Damage to Broca's area - expressive
Brain CT scan
nonfluent aphasia (trouble expressing
language - "individuals know what • With/without contrast
they want to say, but cannot get it out")
MRI
• Standard MRI
CAUSES • Diffusion tensor imaging (images white
• Stroke (superior division of left-middle matter tracts)
cerebral artery), traumatic brain injury, brain • Functional MRI (images neurological
tumor, cerebral hemorrhage activity)
SPECT/PET
) • Images neurological activity
• Slowed, effortful speech

• Short sentences without grammatical
OTHER DIAGNOSTICS
construction (content appropriate, • Language assessment, screening tools
meaningful)
• Individual with Broca's aphasia may
describe trip to barber for haircut as follows
( T_R_E~_~_M_EN_T )
0 "Yes ... errr ... Tuesday ... er ... Dad and
• Treat underlying cause
Kevin T. .. (his own name), and Dad .... er ...
• Most individuals improve/recover
the mall. .. and ah ... Tuesday Tuesday,
spontaneously within one month
ten o'clock ... and .. oh barber one ... um'
barber ... and er ... hair ... "
• Written, spoken language comprehension OTHER INTERVENTIONS
intact (or mildly impaired) • Speech therapy (early initiation)
• Self-monitoring speech (generally still
capable) - awareness of speech deficit
66
l(L0VER-8UCY SYNDROME
osms.i"l/lcluveT-8ue14_s14nd Tome
( PATHOLOGY & CAUSES ) ( D_IA_GN_o_s,_s)

• AKA bilateral temporal lobe disorder • Three/more symptoms present (most
• Caused by bilateral lesions to medial commonly placidity, hyperorality, dietary
temporal lobe changes)
O Hippocampus, surrounding structures
including amygdala; vital for declarative, DIAGNOSTIC IMAGING
long-term memory
CT scan/MRI
• Temporal lobe lesions
CAUSES
• Trauma/lobectomy, herpes simplex
encephalitis, stroke, Pick's disease, LAB RESULTS
Alzheimer's disease • If viral encephalitis underlying cause - CSF
analysis, serology
• CSF fluid analysis
(__ s,_G_NS_&_S_Y_M_PT_O_M_s
) , Normal/mild protein j, normal/low
glucose content, normal/raised red cell
• Amnesia (profound antero-, retrograde count, lymphocytosis
amnesia), inappropriate things/compulsive
• CSF serology
eating, inappropriate object insertion into
mouth, hypersexuality, visual agnosia , CSF antibodies compared to serum-
(inability to recognize familiar objects/ specific antibodies
people), docility (diminished fear/aggression , 4x rise in virus specific lgG/positive lgtv1
response) • CSF polymerase chain reaction (PCR) -
specific virus identification
( T_R_EA_~_M_EN_T
)
MEDICATIONS
• Herpes simplex encephalopathy -
antivirals
67
WERNICl(E'S APHASIA
osms.i"l/wernielces-o. ho.sio.

• Wernicke's aphasia DIAGNOSTIC IMAGING
O Wernicke's area: assigns speech sounds • Findings vary by aphasia cause
meaning , May include evidence of bleeding/
O Damage to Wernicke's area - receptive, hypodensities (stroke); mass effect,
fluent aphasia (trouble interpreting tumor (cancer)
language) n Functional imaging reveals regional
perfusion deficits
CAUSES Brain CT scan
• Typically stroke (left middle cerebral artery),
• Vary by aphasia cause
traumatic brain injury, brain tumor, cerebral
• With/without contrast
hemorrhage
MRI
• Standard MRI
• Impaired written, spoken language • Diffusion tensor imaging
comprehension • Functional MRI
• Unaware of speech error, meaninglessness
SPECT/PET
• Speech-specific symptoms
• Jargon: neologisms, real words used
meaninglessly; structurally intact speech,
typical intonation but lacks content OTHER DIAGNOSTICS
O Literal (phonemic) paraphasia: • Language assessment, screening tools
substitution, addition, rearrangement
of sounds - errors sound like intended
word( e.g. "nog" instead of "dog") ( T_R_E~_if_M_EN_T__ )
O Verbal (semantic) paraphasia: related
word instead of intended word (e.g OTHER INTERVENTIONS
"spoon" instead of "fork") • Most individuals improve/recover
O Neologism: made-up non-word instead spontaneously within one month
of intended word (e.g. "fluparp" for • Speech, comprehension therapy (early
"kettle") initiation)
O Circumlocution: describe intended word
(e.g. "it's pointed, thin, you write with it",
in reference to a pen)
O Run-on speech: verbalized idea stream
related to topic (e.g. asked what do you
do at the pet store: "The pet store is a
place, it is a place with many pets, and
pet food, my favourite animals are dogs,
at the pet store I buy food for my dog,
there are also fish at the pet store ... ")
68
Normal---+ Not fluent.
Moderate-+ severe Moderale-+ severe
mild difficulty effortful, slow
Mild -+ severe Mild -+ severe Severely impaired Fluent
69
NOTES
NOTES
• • CRANIAL NERVE INJ'"URY
_ _____..)
• Brain/cranial nerves injury----> neurological DIAGNOSTIC IMAGING
dysfunction
CT scan/MRI
• Specific, focused neurological functioning
CAUSES tests
• Trauma (accidental, inflicted), autoimmune,
infectious, idiopathic
( SI_G_NS_&_S_Y_M_PT_O_M_s
) ( T_R_E~_~_M_EN_T
)
• Varies widely • Symptomatic complications, treat
O Area-dependent underlying causes
BELL'S PALSY
osms.i"l/\>ells- o.ls14
RISI( FACTORS
( PATHOLOGY & CAUSES ) • Age (peak incidence> 50), diabetes
mellitus, pregnancy (third trimester), early
• Lower motor neuron weakness of cranial
postpartum
nerve VII (facial nerve)----> acute, peripheral
facial palsy
• Adversely affects facial motor activity; COMPLICATIONS
lacrimal, salivary glands (parasympathetic • Corneal exposure ----> keratitis, motor
fibers); taste (afferent fibers on anterior regeneration ----> oral incompetence,
two-thirds of tongue); external auditory reinnervation "miswiring" ----> synkinesis
canal, pinna (somatic afferents) (involuntary muscle movement)
• Etiology unknown • Incomplete sensory regeneration
O Potentially viral-associated ischemia, , Dysesthesia (unpleasant/abnormal
demyelination (e.g. herpes zoster, touch), dysgeusia (distorted taste),
herpes simplex (HSV), Epstein-Barr ageusia (decreased taste)
virus, Lyme disease)
70
(
) D_IA_GN_o_s,_s)
• Unilateral facial weakness evolves rapidly LAB RESULTS
over 48 hours • Serologic testing if viral infection suspected
O Eyebrow sags, eye won't close, mouth
corner droops (drooling, difficulty eating/
OTHER DIAGNOSTICS
drinking), decreased tear production ---->
• House-Brackmann facial nerve dysfunction
ocular dryness, hyperacusis (! everyday
classification
sound tolerance), ageusia (decreased
taste sensation) , Grades facial muscle impairment degree
• Prodromal symptoms (pre-onset) = Normal, mild, moderate, moderately-
severe, severe, total paralysis
O Ear pain, dysacusis (sound distortion)
• Palpebral-oculogyric reflex (Bell
• See mnemonic: BELL'S Palsy
phenomenon)
= Attempted eyelid closure ----> upward eye
\ MNEMONIC: BELL'S Pals14 deviation
Symptoms of Bell's palsy • Stethoscope loudness test
Blink reflex abnormal = Individual listens to tuning fork through
stethoscope
Ear sensitivity
= Hyperacusis indicates paralyzed
Lacrimation: deficient, excess
stapedius muscle on affected side
Loss of taste
• ! pinprick sensation in posterior auricular
Sudden onset
area
Palsy: CN VII nerve muscles
• ! taste
(All symptoms are unilateral)
= Sweetness, saltiness, acidity
• Motor nerve conduction studies (NCS)
= Estimates axonal loss degree
(..____ T_R_E~_~_M_EN_T
)
MEDICATIONS
• Corticosteroids
O Symptom onset----> begin within 3-4
days
OTHER INTERVENTIONS
• Artificial tears, eye patching
O Reduce corneal damage risk
• Physical therapy (e.g. facial exercise,
neuromuscular retraining)
• May resolve spontaneously within three
weeks
Figure 71.1 An individual with Bell's palsy

affecting the right side of the face.
71
TRIGEMINAL NEURALGIA
osmsJl/-lTigemino.1-neuTo.lgio.

• AKA tic douloureux; stimulating facial DIAGNOSTIC IMAGING
trigger zone ----> intense, stabbing,
paroxysmal pain in trigeminal nerve (cranial CT scan/MRI
nerve V-usually V2/V3 subdivisions) • May identify lesion/vascular compression
O Triggers: touching/moving tongue, lips, • Electromyographyrigeminal reflex testing
face; chewing; shaving; brushing teeth; O Measures muscles', controlling nerves'
blowing nose; hot/cold drinks electrical activity
TYPES OTHER DIAGNOSTICS

• Classic • Classic trigeminal neuralgia
O Most common; unknown etiology, O No clinically evident neurologic deficit,
artery/vein compressing cranial nerve no better explanation via another
(CN) V root may----> pain diagnosis, ;:=: three attacks of unilateral
• Secondary facial pain fulfilling criteria A and B
O Nonvascular lesion compressing nerve O A: Occurs in z one trigeminal nerve
----> pain divisions, no radiation beyond trigeminal
distribution
8: Pain has three or more of the
RISI( FACTORS 0
following four characteristics: recurring

• Biological sex (female > male)
paroxysmal attacks(< two minutes);
• Age (peak incidence 50-60) severe intensity; shock-like, shooting,
• Demyelinating disorders (e.g. multiple stabbing, sharp pain; stimulating
sclerosis) affected facial side ----> > two attacks
• Postherpetic trigeminal neuropathy (other attacked may be spontaneous)
• Acoustic neuroma
• Saccular aneurysm
• Vestibular schwannoma
C....___ T_R_E~_if_M_EN_T__ )
MEDICATIONS
C__s,_G_Ns_&
__sv_M_PT_O_M_s_) • Pain management
• Pain paroxysms SURGERY

O Last one-several seconds; may repeat; • Microvascular decompression
usually unilateral • Neuroablation
• Dull pain between paroxysms O Rhizotomy with radiofrequency
• Facial muscle spasms/autonomic symptoms thermocoagulation/mechanical balloon

(e.g. lacrimation, diffuse conjunctiva! compression/chemical (glycerol) injection
injection, rhinorrhea) O Radiosurgery
O Peripheral neurectomy, nerve block
72
NOTES
• Acquired, progressive cognitive impairment • Memory loss, difficulty retaining new
• Involving one/more cognitive functions information
O Memory, concentration, language, • Language impairment
learning, praxis, judgment, executive • Executive dysfunction
functions, social cognition • Difficulty in handling complex tasks,
• Previous functional-level deterioration; concentration loss, poor judgement
consciousness remains intact • Visuospatial ability impairment
• Apraxia (inability to perform an action)
CAUSES • Behavioral disturbance
• Increasing age; most important risk factor • Personality change
• Alzheimer disease
• Vascular dementia including multi-infarct
dementia, Binswanger's disease ( D_IA_GN_o_s,_s __ )
• Lewy body dementia (DLB)
DIAGNOSTIC IMAGING
• Frontotemporal dementia (e.g. Pick disease)
CT scan
COMPLICATIONS • Reveals microinfarcts indicative of vascular
dementia
• Inability to function independently in
everyday life
• Debilitated state infections (death OTHER DIAGNOSTICS
secondary) • Mental status examination
• See mnemonic for summary O Identify cognitive impairment with
standardized mental status scales
• Montreal cognitive assessment (MoCA).
MNEMONIC: DEMENTIA
' mini-mental state examination (MMSE)
i
Common causes of Dementia • Neuropsychological testing
Diabetes O Quantitate cognitive impairment degree/
Ethanol domains involved (e.g. animal-naming
Medication test)
Environmental (eg CO • Post-autopsy brain biopsy
poisoning)
Nutritional
Trauma
Infection
Alzheimer's
73
neurotransmitter) levels; used for
C.._____ T_R_E~_~_M_EN_T
) Alzheimer disease, DLB
• Memantine
• Treatment/control of reversible causes
, N-methyl-D-aspartate (NMDA) receptor
antagonist (neuroprotective, disease-
MEDICATIONS modifying drug) for advanced dementia
• Acetylcholinesterase inhibitors
O t acetylcholine (brain's primary
ALZHEIMER'S DISEASE (AD)

osmsJI:/o.lzheimeTs-diseo.se
RISI( FACTORS
( PATHOLOGY & CAUSES ) • l age (> 60 years old - risk doubling every
five years)
• Neurodegenerative disease; beta amyloid
• Family history
plaque, neurofibrillary tangle formation
- impaired neuronal signaling, neuron • Trisomy 21 (Down syndrome)
apoptosis • Gene mutations affecting APP, presenilin 1
• Most common form of dementia and 2 (gamma secretase subunits)
• Sporadic (95% of cases), typically> 60 • Apolipoprotein E-e4 alleles (ApoEe4)
years old , ApoE normally breaks down beta
O Early AD onset unusual, mostly familial amyloid, e4 alleles encode less effective
ApoE
• Amyloid precursor protein (APP)
• History of hypertension, dyslipidemia,
O Normally located in neuronal membrane
cerebrovascular disease, altered glucose
O Growth, neuron-repair contributor metabolism, brain trauma
O Abnormal APP degradation via beta
secretase (normally degraded by
gamma, alpha secretase) - APP cut COMPLICATIONS
into insoluble fragments - create beta • Complete debilitation, dependence on
amyloid plaque - AD results others
O Beta amyloid plaque pathology: • Debilitation - dehydration, malnutrition,
signalling obstruction - deposits infection
around vessels (amyloid angiopathy), • Death occurs 5-10 years after symptoms
l hemorrhage risk - initiates onset
inflammatory response
• Tau proteins
O Intracellular microtubule-associated MNEMONIC: RONALD
proteins Features of AD
O In AD, Tau proteins become Reduction of Ach
pathologically hyperphosphorylated Old age
- aggregate, stop supporting Neurofibrillary tangles
microtubules - form neurofibrillary Atrophy of cerebral cortex
tangles - obstruct neuronal signaling (diffuse)
- neuron apoptosis
Language impairment
Dementia (MC in elderly)/
Down's syndrome
74
MNEMONIC: ALZHEIMER'S
) Characteristics of AD
Anterograde amnesia
• Insidious onset, symptom progression
Life expectancy increase in
Early stages population shows increased
• Initial symptom prevalence
0 (Commonly) recent memory impairment; Zapped (loss of)
inability to acquire, remember new acetylcholinergic neurons
information Hereditary disease
• Executive dysfunction Entire hippocampus affected
O Impaired reasoning, handling complex Identified by neurofibrillary
tasks, concentration/motivation loss, tangles
difficulty making/executing plans, poor Mutation in amyloid genes
judgement Entorhinal areas degenerate
O Impaired visuospatial skills first
O Reduced insight into cognitive deficit Retrograde amnesia
(anosognosia) Senile plaques at synapse
O Sleep disturbance
Intermediate/later stages
OTHER DIAGNOSTICS
• Mental status scale clinical assessment
• Behavioral, psychological symptoms
(e.g., MoCA, MMSE)
O Apathy, social disengagement,
• Neuropsychological testing
irritability, agitation, aggression,
wandering, psychosis (hallucination, = Confirm cognitive impairment diagnosis
delusion) • Post-autopsy brain biopsy
• Motor task completion = Shows characteristic beta-amyloid
O Difficulty (dyspraxia)/inability (apraxia) plaque, neurofibrillary tangle
O Impaired language function (e.g. word-
finding deficit)
O Remote memory loss
O Seizure
O Motor signs (e.g. pyramidal signs)
Advanced
°Complete debilitation, dependence on
others, urinary/fecal incontinence
(..____ D_IA_GN_O_SI_S)
• Diagnosis of exclusion
DIAGNOSTIC IMAGING
CT scan/MRI Figure 72.1 An MRI scan in the axial plane
demonstrating prominent sulci and gyri in an
• Exclude other dementia causes
individual with Alzheimer's disease.
• Brain scans show diffuse cortical (especially
hippocampus) atrophy, gyri narrowing, sulci
widening, ventricle enlargement
75
(..__ __ T_R_E~_~_M_EN_T
)
• No cure
MEDICATIONS
• Vitamin E supplementation may provide
benefit
• Memantine (advanced stages)

hippocampus from an individual with
Alzheimer's disease demonstrating a
neurofibrillary tangle.
Figure 72.3 A histological section of brain

from an individual with Alzheimer's disease
demonstrating multiple amyloid plaques.
LEWY BODY DEMENTIA

osms.i"l/lew14-\,od14-deme n-l:io.
COMPLICATIONS
( PATHOLOGY & CAUSES ) • Persistent psychotic symptoms, especially
visual hallucinations
• Degenerative disease
• Depression
O Early dementia, visual hallucinations
• Complete debilitation, dependence on
onset; later parkinsonian clinical feature
others
onset, presence of Lewy bodies
• Debilitation infection often - death; life
• Occurs at 50-85 years old (typically)
expectancy !
• More rapid cognitive decline than AD
• Neuroleptic-agent sensitivity
, Adverse effects (parkinsonism) j
CAUSES severity, symptom exacerbation
• Alpha-synuclein protein aggregation in
neurons (particularly cortex, substantia
nigra) forming Lewy bodies, - apoptosis
76
(
) T_R_E_AT_M_E_N_T __ )
Early stages • No cure
• Progressive, fluctuating cognitive function
impairment MEDICATIONS
O Attention, executive. visuospatial
functions; memory affected later Alleviate symptoms
• Visual hallucination, disorganized speech, • Acetylcholinesterase inhibitors
depression n Cognitive symptoms
• Dopamine analogue
Later stages
O Motor symptoms
• Motor symptoms mimic Parkinson's disease
• Atypical neuroleptic agents
O Resting tremor, stiffness, slow
O Persistent disabling hallucinations,
movement, reduced facial expressions
psychotic features (used very cautiously)
Other clinical features
• Rapid eye movement (REM) sleep behavior
disorder
O Sleep disturbance (sleep walking,
talking)
O Orthostatic hypotension, syncope,
urinary incontinence/retention.
constipation, impotence
• Repeated falls (parkinsonism). cognitive
fluctuation/orthostatic hypotension
• Neuroleptic sensitivity
Figure 72.4 A histological section of the brain

) demonstrating a Lewy body. They are caused
by the abnormal deposition of the protein
• Exclude other dementia causes alpha synuclein.
DIAGNOSTIC IMAGING ,.
. _.,
'. ·;:·~ '
Single-photon emission computerized ._.. '· r. •
tomography (SPECT) scanning
~.
• Dopamine transporter ligand ioflupane
1-123 (DaTSCAN) shows! transporter
perfusion
. .•
a-SVNUCLEIN
. .
'V
,..
- .,. ' .
•• "•
OTHER DIAGNOSTICS ' '

}
. -
..
° Confirms cognitive-impairment
diagnosis / - •
...
• Mental status scale assessment (e.g.

MoCA. MMSE) Figure 72.5 lmmunohistochemical tain for the
• Post-autopsy brain biopsy protein alpha synuclein highlights the Lewy
O Shows
bodies in the brain tissue of an individual with
Lewy bodies as eosinophilic
Lewy body dementia.
intracytoplasmic inclusions in cortical
neurons
77
FRONTOTEMPORAL DEMENTIA
(FTD)
osmsJl/f Ton-lo-lemporo.1-de me n-1:io.
( PATHOLOGY & CAUSES ) (__ s,_G_NS_&_S_Y_M_PT_O_M_

• Heterogeneous degenerative frontal/ • Frontal lobe involvement - behavior/
temporal lobe disease emotional changes
O Presents with personality/behavioral • Disinhibition, emotional blunting, apathy/
disturbances/aphasia empathy-loss, hyperorality, compulsive
• Occurs< 65 years old (typically) behavior, family/friend dissociation
O Memory loss develops later (argumentative/hostile behavior)
• Inherited/sporadic • Temporal lobe involvement - language

impairment, emotional disturbance
• Associated with specific-protein cellular
inclusions • Difficulty finding correct word, progressive
aphasia, impaired word comprehension,
O Tau proteins (Pick disease)
emotional impairment (anxiety/irrational
O TAR DNA-binding protein 43 (TDP43)
fear), sarcasm-recognition difficulty
• Protein buildup - stop neuronal signaling, • Later stages - cognitive decline
lead neurons to apoptosis
• Worsening memory, inability to learn new
• Concomitant motor disease: 15-20% (e.g. things, concentration loss
parkinsonism, motor neuron disease)
TYPES
Pick disease
• Specific pathological FTD subtype
characterized by presence of Pick bodies
(tangles of abnormal Tau proteins-3R tau
isoforms)
0 3R tau isoforms (particular amino-acid
sequence repeated three times) are
hyperphosphorylated, stop supporting
microtubules, tangle into round silver-
staining inclusion bodies (Pick bodies)

axial plane demonstrating frontotemporal
volume loss.
78
)
• Exclude other dementia causes • No cure
O Laboratory, imaging tests
MEDICATIONS
DIAGNOSTIC IMAGING
Symptom alleviation
MRI • Antidepressants
• Structural imaging O Severe behavioral symptoms
• Unilateral frontal/temporal atrophy, may - • Atypical antipsychotic drugs have
both hemispheres, ventricle enlargement significant side effects
• Cholinesterase inhibitors
SPECT/perfusion-MRI/PET
O No convincing evidence of benefit
• Functional imaging
• Affected-lobe hypometabolism,
hypoperfusion OTHER INTERVENTIONS
• Physical exercise; physical, occupational,
speech therapy; j supervision
LAB RESULTS
Genetic testing
MNEMONIC: PICk
• Familial FTDs
' Features of Pick disease
Pick disease-specific biopsy findings Progressive degeneration of
• Pick bodies neurons
O Round/oval, Tau-positive, neuronal lntracytoplasmic Pick bodies
cytoplasmic inclusions Cortical atrophy
• Pick cells Knife edge gyri
O Swollen (ballooned) neurons
OTHER DIAGNOSTICS
• Neuropsychological tests
O Normal in early stages
MoCA. MMSE)
• Post-autopsy brain biopsy shows
characteristic microscopic findings
O Microvacuolation, neuronal loss, swollen
neurons, myelin loss, astrocytic gliosis,
abnormal protein inclusions
Figure 72.7 A brain at post mortem with

frontotemporal degeneration.
79
VASCULAR DEMENTIA
osms.i"l/ vo.seulo.T-de me ,rlio.
• Deficits due to subcortical infarcts
( PATHOLOGY & CAUSES ) , Focal motor signs
• Heterogenous dementia , Gait disturbance

O Results from multiple cerebrovascular , Urinary frequency/urgency
events/chronic ischemia , Personality, mood change
• Second most common dementia cause in , Relatively mild memory deficit
elderly , Improvements may occur between
• High Alzheimer disease comorbidity cerebrovascular events
• Multiple, bilateral, cortical, subcortical
infarcts/chronic ischemia - ! brain blood
supply - stepwise cognitive function (.____ D_IA_GN_O_s,_s
)
decline, gait abnormality, focal neurological
deficits DIAGNOSTIC IMAGING
O Prominent executive function deficit MRI/CT scan
O Late-onset memory impairment • Show multiple cortical, subcortical infarcts
• Binswanger's disease • Microinfarcts identified
O Large subcortical white matter areas , Initiate evaluation to define etiology
involved
= Carotid Doppler ultrasound: reveal
carotid plaques
CAUSES = Echocardiogram: reveal cardiogenic
• Cerebral artery atherosclerosis emboli
• Carotid artery/heart embolization
• Chronic hypertension - cerebral arterioles OTHER DIAGNOSTICS
sclerosis • Neuropsychological testing
• Vasculitis , Detects cognitive impairment, domains
involved
RISI( FACTORS , Similar language, construction, memory
• Smoking, hypertension, diabetes, registration deficits with AD, but more
insulin resistance, hyperlipidemia, impaired executive functioning
hyperhomocysteinemia • Microinfarcts identified
O Initiate evaluation to define etiology
( SIGNS & SYMPTOMS ) O
O
Holter monitor (detect arrhythmias)
Risk factor screening
• Progressive, stepwise cognitive function

impairment (affected cortical area-
dependent)
°Frontal: executive dysfunction (frontal)
O Left parietal: aphasia, apraxia, agnosia
O Right parietal: hemineglect, confusion,
agitation, visuospatial, constructional
difficulty
O Temporal: anterograde amnesia
80
( T_R_E~_~_M_EN_T
)
• No cure
MEDICATIONS
• Vascular risk factor control
O Antihypertensive drugs, antidiabetic
agents, statins, antiplatelet agents
• Acetylcholinesterase inhibitors/memantine
OTHER INTERVENTIONS
O Lifestyle changes
Figure 72.8 An MRI scan in the axial plane

of the head of an individual with cognitive
impairment. There are multiple small white
matter infarcts and an absence of cortical
atrophy.
81
NOTES
NOTES
•• EAR PATHOLOGY
( PATHOLOGY & CAUSES ) ( D_IA_GN_o_s,_s __ )
• Structural, functional pathology affecting DIAGNOSTIC IMAGING
different ear components • Otoscopy
• Outer ear: auricle, pinna, ear canal , Tympanic membrane visualization
OInflammation/infection - otitis externa
• Outer ear, middle ear: separated by OTHER DIAGNOSTICS
tympanic membrane (eardrum); normally
• Outer ear inspection
no air passage/fluids between two
• Hearing screening tests (Weber, Rinne
compartments
tests)
O Perforated eardrum - communication
, Distinguishes between conductive,
through tympanic membrane
sensorineural hearing loss
• Middle ear: tiny chamber; contains
functional ear bones (malleus, incus,
stapes)
( T_R_E~_~_M_EN_T__ )
O Inflammatory middle ear disease -
otitis media MEDICATIONS
• Eustachian tube: connects middle ear to • Topical otic drops/systemic agents
nasopharynx
• Antihistamines/corticosteroids/
° Failure to open/close, remove secretions decongestants (guided by specific
- Eustachian tube dysfunction diagnosis)
(__ s,_G_NS_&_SY_M_PT_O_M_s_) SURGERY

• Drain fluid accumulation/debride
• Hearing loss granulation tissue/repair defect
• Ear pain
• Ear discharge
82
EUSTACHIAN TUBE DYSFUNCTION
osms.i"l/ eus-lo.ehio.n--lu\,e-d14sfune-lion
( PATHOLOGY & CAUSES ) Ciliary dyskinesia

• Acquired: toxlns e- ciliary damage,
• Any primary Eustachian tube function paralysis ---'> mucociliary elevator failure
failure n Cilia can't flick back and forth (e.g.
• Failure to equalize/dilatory dysfunction cigarette smoke)
O Eustachian tube may not open ---'> • Congenital: cystic fibrosis ---'> very thick
tympanic membrane stretches=- pain secretions not adequately cleared
Patulous dysfunction {chronicpatency)

• Normal Eustachian tube is two-way valve COMPLICATIONS
(opens to equalize pressure, closed at rest) • Conductive hearing loss, otitis media,
• Persistent opening ---'> irritant/bacteria tympanic membrane perforation,
entering middle ear cholesteatoma
Ciliary dyskinesia
• Tiny cilia line Eustachian tube, clear out (__ SI_G_NS_&_S_Y_M_PT_O_M_s
)
middle ear mucus secretion
• Ciliary dysfunction/dyskinesia: cilia fail • Affected ear is clogged, muffled
to clear section ---'> stagnant secretion ---'> • Ear pain
complications (e.g. otitis media) • Autophony (hearing one's own voice,
breathing)
CAUSES O Encountered primarily in patulous
dysfunction
Failure to equalize/dilatory dysfunction • If inner ear affected ---'> balance problems
• Functional: inflammation (viral infection-
e.g. common cold, allergy) ---'> Eustachian
tube swelling, secretion accumulation ---'> ( D_IA_GN_O_s,_s)
Eustachian tube mechanical blockage---'>
equalization failure DIAGNOSTIC IMAGING
• Anatomical: regional mass pressure (e.g.
tumour) or previous trauma scar/medical CT scan I MRI
procedure • Contrast in persistent effusion cases
• Neoplasm may cause Eustachian tube
Patulous dysfunction (chronic patency) obstruction
• Weight-loss (> 6 lbs/2.7 kg) - tissue
atrophy (e.g. chronic illness) Nasal endoscopy
• Chronic allergy/gastric-content reftux -e • Inflammation, secretion, allergic
mucosal atrophy manifestation signs
• Chronic gum-chewing ---'> repeated muscle- • Eustachian tube opening quality
facilitated Eustachian tube opening (assessed through yawn, swallowing
maneuvers)
• Short, floppy Eustachian tubes (in children)
---'> provide little resistance against middle-
Otoscopicear examination
ear reflux during j positive pressure on
• Normal tympanic membrane appears shiny,
nasopharyngeal end of tube (e.g. crying/
translucent
nose blowing)
83
• Examine for abnormality (e.g. retraction,
effusion, perforation) (.._____ T_R_E~_iT_M_EN_T
)
O Dull bluish-gray/yellowish coloration
denotes effusion behind membrane;
MEDICATIONS
reddish coloration, engorged vessels • Dilatory dysfunction
signal inflammation , Upper respiratory tract inflammation
• Pneumatic examination (viral infection, allergy) ---> short
intranasal/systemic decongestant,
° Fluid-filled ear minimizes tympanic
corticosteroid course
membrane excursion with insufflation
• Patulous dysfunction
, Avoid decongestants/corticosteroids
OTHER DIAGNOSTICS
• Hearing tests for conductive hearing loss
O Weber test: sound lateralized to
SURGERY
affected ear • Dilatory dysfunction
O Rinne test: BC > AC , Tympanostomy tubes: hollow tubes
inserted into eardrum ---> create direct
opening between middle, outer ear
---> allow easy pressure equilibration,
accumulated debris drainage
OTHER INTERVENTIONS
, Hydration, nasal saline drops/irrigation
OTITIS EXTERNA
osms.i"l/ o-li-lis-ex-leTne1
RISI( FACTORS
( PATHOLOGY & CAUSES ) • Frequent swimming
• Mechanical cleaning/irritation (cotton
• AKA "swimmer's ear"
swabs/scratching)
• Outer ear canal irritation
• Ear canal occlusion (hearing aid,
headphone)
CAUSES • Diabetes
• Outer ear canal microbial infection (primary
cause)
O Bacterial (90%): Pseudomonas ( SIGNS & SYMPTOMS )
aeruginosa, Pseudomonas vufgaris, E.
coli, S. aureus • Acute (< six weeks)
° Fungal: Candida albicans, Aspergilfus , Pinna traction ---> aggravated pain
niger , Otorrea: sticky yellow discharge)
• Dermatological conditions , Swelling, purulent debris e- external
O Allergic contact dermatitis, psoriasis, canal obstruction ---> conductive hearing
atopic dermatitis loss, +l- aural fullness
, Posterior auricular lymphadenopathy
84
Complicated otitis externa: periauricular
( T_R_E~_~_M_EN_T
)
°
soft tissue erythema, swelling

• Chronic (> three months)
MEDICATIONS
O External ear canal pruritus; epidermis
• General
atrophy, scaling; otorrhea; normal
tympanic membrane , Burow's solution: topical drops
application (buffered aluminum sulfate,
acetic acid mixture)
( D_IA_GN_O_s,_s __ ) • Bacterial
, Antipseudomonal otic drops/topical
LAB RESULTS steroid drops/combination
• Discharge = 3% acetic acid solution ----. acidify ear
O Gram stain, culture canal (bacteriostatic acidic pH)
= Systemic antibiotics (lymphadenopathy/
cellulitis)
OTHER DIAGNOSTICS
• Fungal
• Note physical outer ear change (discharge,
= Topicalantifungal preparation (e.g.
erythema, scaling)
gentian violet, boric acid)
• Chronic otitis externa (pruritus without
obvious infection)
affected ear
= Corticosteroid otic drops alone
O Rinne test: BC > AC
OTHER INTERVENTIONS
• General
= Clean ear under magnification ----.
irrigation, suction, dry-swabbing
• Fungal
= Debridement
Figure 73.1 An individual with otitis externa

of the left ear.
85
OTITIS MEDIA
osms.i"l/ o·IJlis-mediCl
CAUSES
( PATHOLOGY & CAUSES ) • Bacteria
, S. pneumoniae, H. influenzae, M.
• Inflammatory middle ear diseases
catarrhalis, group A streptococcus, S.
aureus)
TYPES • Virus
Acute otitis media
O Respiratory syncytial virus, influenza,
parainfluenza, adenovirus)
• Acute middle ear compartment infection
(< three weeks)
O Often viral/bacterial coinfection
• Acute infection/allergies - nasopharyngeal

mucous membrane inflammation - RISI( FACTORS
Eustachian tube dysfunction - secretion • Smoke, air-pollution exposure
reflux/aspiration from nasopharynx to • lmmunosuppression
middle ear (normally sterile) - infection
• Pacifier use; daycare
Otitis media with effusion • Down syndrome
• Fluid presence in middle ear, with/without • Recent upper-respiratory tract viral
infection signs infection
• Eustachian tube dysfunction - trapped • Craniofacial malformation (cleft lip/palate,
fixed gas volume in middle ear - microcephaly)
surrounding tissue slowly absorbs gas - ! • Cystic fibrosis
middle-ear pressure
, Sufficient! middle-ear pressure -
surrounding tissue fluid drawn into
middle ear cavity - middle-ear effusion
(transudate)
• Most common pediatric hearing loss cause
Chronic suppurative otitis media

• Acute otitis media complication - chronic
suppurative otitis media
• Perforated tympanic membrane with
persistent drainage(> 6-12 weeks)
• Acute otitis media - prolonged
inflammatory response - middle ear
mucosal oedema; tympanic membrane
ulceration, perforation - chronic middle
ear, mastoid cavity inflammation -
persistent discharge from middle ear
through perforated tympanic membrane
• Persistent infection/inflammation - Figure 73.2 A tympanic mebrane bulging as
granulation tissue - polyps within middle- due to the accumulation of pus in the middle
ear space - inflammation, ulceration, ear of an individual with otitis media.
infection, granulation tissue formation cycle
- eventual surrounding bony structure
destruction
86
COMPLICATIONS • Chronic suppurative otitis media
• Tympanic membrane perforation, O Perforated tympanic membrane;
mastoiditis, cholesteatoma, bacterial otorrhea; visible granulation tissue
meningitis, dural sinus thrombosis, (medial canal/middle-ear space); middle
conductive/sensorineural hearing loss ear mucosa (through perforation)
may be edematous, polypoid, pale,
erythematous
OTHER DIAGNOSTICS
• Acute otitis media
O Otalgia, fever, conductive hearing loss Otitis media with effusion
(triad) • Hearing tests for conductive hearing loss
° Children: ear pulling, crying, poor sleep, O Weber test: sound lateralized to
irritability affected ear
° Crying ----> small blood vessel distension O Rinne test: BC > AC
on tympanic mernbrane=-. mimics otitis • Audiological investigation
media redness (confounds diagnosis)
° Flat audiogram, tympanogram
• Otitis media with effusion
O Ear fullness, conductive hearing loss +/-
tinnitus, no pain/fever ( T_R_E_AT_M_E_N_T __ )
• Chronic suppurative otitis media
O Perforated tympanic membrane; MEDICATIONS
otorrhea; hearing loss; no pain/ • Acute otitis media
discomfort; fever, vertigo, pain ----> • Analgesics
danger signs (possible complications)
• Systemic antibiotics if severe/persistent
(> three days)
( D_IA_GN_O_s,_s __ )
• Avoid antihistamines, decongestants ---->
DIAGNOSTIC IMAGING secretions thicken
CT scan/MRI • Corticosteroid drops----> ! granulation
• Acute otitis media tissue
O Severe cases with hearing loss/high • Antibiotics (topical/drops)
fever) • Granulation tissue control: granulation
O Excludes more serious complications tissue prevents affected-site topical
(e.g. bony destruction/meningitis) medication penetration
Otoscopy
• Acute otitis media SURGERY
O Tympanic membrane! mobility, • Acute otitis media
hyperemia, bulging membrane (pus • Frequent recurrence: tympanostomy
behind tympanic membrane), landmark tubes
loss (malleus handle, long process not • Otitis media with effusion
visible) • Severe cases: tympanostomy tubes,
• Otitis media with effusion myringotomy (tiny eardrum incision) +l-
O Amber/dull grey tympanic membrane ventilating-tube insertion
discoloration; meniscus fluid level j L
air bubbles behind tympanic membrane;
air insufflation ----> immobile tympanic
membrane
87
OTHER INTERVENTIONS • Chronic suppurative otitis media
• Otitis media with effusion O Mechanical/irrigative debris clearing:
O Watchful waiting: 90% of children aural toilet (mechanical removal of
clear fluid in three months without mucoid exudates, desquamated
intervention epithelium, associated debris prior
O Minor cases: may resolve to medication administration); aural
spontaneously; manual autoinflation irrigation (50% acetic acid/sterile water
(manually pinch nasal passage, close ear-rinse solution)
back of pharynx - forceful diaphragm
contraction)
PERFORATED EARDRUM
osmsJl/ perforo.-led-eo.rd rum
( PATHOLOGY & CAUSES ) (..____ D_IA_GN_O_SI_S

)
• Tympanic membrane communication DIAGNOSTIC IMAGING
between middle ear, external environment
Otoscopy
• Perforation visualization
CAUSES
• Otitis media
• Trauma
OTHER DIAGNOSTICS
• Hearing tests: conductive hearing loss
• Explosive/percussive force, exceptionally
loud noise , Weber test: sound lateralized to
affected ear
• Iatrogenic, sudden pressure j ! (with
blocked Eustachian tubes) , Rinne test: BC > AC
• Audiometry: conductive hearing loss
COMPLICATIONS
• Chronic infection - permanent hearing loss (..____ T_R_E~_~_M_EN_T
)
MEDICATIONS
( SIGNS & SYMPTOMS ) • Avoid otic drops containing gentamicin,
neomycin sulfate, tobramycin
O Hearing loss
, Ototoxicity - permanent hearing loss
O Tinnitus
• Otorrhea control
O Ear-ache (infection association)
• Topical: fluoroquinolone otic drops
O Otorrhea
= Systemic: antibiotics covering
O Nausea/vomiting respiratory flora
88
SURGERY
• Tympanoplasty: surgical repair
OTHER INTERVENTIONS
• Watchful waiting
O Perforations may heal in weeks/months
Figure 73.3 A partial perforation of the ear

drum.
89
NOTES
NOTES
• • ENCEPHALOPATHY
comprehensive metabolic panel (CMP)
( PATHOLOGY & CAUSES ) , j ammonia, j transaminases, j
prothrombin time, hyper/hypoglycemia
• Abnormal brain structure/function
• Permanent/reversible brain injury due to Cerebrospinal fluid (CSF)
direct injury/other illness • Determine underlying cause, rule out other
causes
OTHER DIAGNOSTICS
• Altered mental status Electroencephalogram (EEG)
O Irritability, agitation, confusion, • High-amplitude low-frequency, triphasic
somnolence, stupor, coma, psychosis, waves
delirium
• Seizure, myoclonus, asterixis, ataxia, tremor
( T_R_E~_~_M_EN_T
__ )
( D_IA_GN_O_s,_s
__ ) MEDICATIONS
• Anticonvulsants
DIAGNOSTIC IMAGING , Individuals with seizures due to
Brain imaging (CT scan, MRI, etc.) encephalopathy
• Changes indicative of Wernicke-Korsakoff
syndrome (e.g. shrunken mammillary OTHER INTERVENTIONS
bodies) • Careful monitoring, supportive measures
(e.g. IV fluids, nutritional support)
LAB RESULTS
Blood studies
• Complete blood count (CBC),
90
BERIBERI
osms.i-l/\>eTi\>eTi
( PATHOLOGY & CAUSES ) ( D_IA_GN_O_s,_s

__ )
• Thiamine (vitamin Bl) deficiency DIAGNOSTIC IMAGING
O Decreased intake/inability to absorb
CT scan/MRI
thiamine
syndrome (e.g. shrunken mammillary
RISI( FACTORS bodies)
• Common in individuals who are alcoholic,
malnourished, elderly
OTHER DIAGNOSTICS
• History
COMPLICATIONS O Alcoholism/low nutritional state
• "Wet beriberi"
° Cardiomegaly, cardiomyopathy, heart
failure ( T_R_E~_~_M_EN_T
__ )
MEDICATIONS
• IV thiamine supplementation
• Avoid glucose before thiamine
• Nystagmus, ataxia, ophthalmoplegia if alcoholic; can precipitate
(triad of Wernicke-Korsakoff syndrome), encephalopathy
confusion
• Wet beriberi: tachycardia, dyspnea, edema
• Dry beriberi: peripheral neuropathy,
confusion. pain; AKA Wernicke-Korsakoff
syndrome
HEPATIC ENCEPHALOPATHY
osms.i-l/hepo.-lic-encepho.lopo.-lh14
• Other injuries (e.g. alkalosis, metabolic
( PATHOLOGY & CAUSES ) abnormalities, medications, bleeding,
infection) - hepatic encephalopathy
• Brain injury due to toxic metabolites; not
removed by liver due to liver dysfunction
• Accumulation of toxic metabolites
(e.g. ammonia), byproduct of nitrogen
metabolism
• Ammonia detoxification in astrocytes -
glutamine accumulation - osmotic stress
- swelling
91
OTHER DIAGNOSTICS
( SIGNS & SYMPTOMS ) • Psychometric tests
, Inhibitory control test (ICT); mental
• Mental status: confusion, poor
status changes
concentration, stupor, coma
• History
• Neuromuscular: asterixis, rigidity,
hyperreflexia , Liver disease, altered mental status
• Graded by severity EEG
O Grade I: mild; short attention span; • High-amplitude low-frequency, triphasic
mood, sleep problems waves
O Grade II: moderate; decreased energy,
slurred speech, tremors
O Grade Ill: severe; confusion,
anxiety
stupor,
c TREATMENT )
O Grade IV: coma MEDICATIONS
• Lactulose
C..____ D_IA_G_N_OS_IS
__ ) , Decrease absorption
• Rifaximin
of ammonia
n Kill bowel flora that produce ammonia

DIAGNOSTIC IMAGING
Tl-weighted MRI OTHER INTERVENTIONS
• Hyperintensity of globus pallidus • Nutritional support
, Limit protein intake
LAB RESULTS
• Blood tests
Or ammonia
REYE SYNDROME
osms.l"l/Te14e-s14ndTome
brain barrier - swelling, oxidative damage
( PATHOLOGY & CAUSES ) to astrocytes - brain inflammation, edema
- encephalopathy
• Encephalopathy, liver failure associated
with salicylate use in children with viral
illness C..___s,_G_Ns_&_s_Y_M_PT_o_M_s_)
• Rare syndrome in children ages 4-12;
associated with aspirin use during viral • Five stages
infection (e.g. varicella, influenza A/B)
1. Quiet, sleepy, vomiting
• Uncoupling of oxidative phosphorylation 2. Stupor, seizures, decorticate response,
reactions intact pupillary reflex
• Oxidative phosphorylation in mitochondria 3. Possible coma, decerebrate response,
fails - liver damage - nitrogen-containing absence of pupillary reflex
toxins not removed from blood - ammonia
4. Coma, absence of deep tendon reflex
accumulates in blood - crosses blood-
5. Death
92
OTHER INTERVENTIONS
( D_IA_GN_O_SI_S ) • Hyperventilation
= Manage cerebral edema
LAB RESULTS
• Careful monitoring, supportive measures
• Blood studies
(e.g. IV fluids)
• j ammonia, j transaminases, I prothrombin
time, hyper/hypoglycemia
OTHER DIAGNOSTICS
• History
O Viral illness, aspirin use
( T_R_E~_;i-_M_EN_T
)
MEDICATIONS
• Mannitol, glycerol
O Manage cerebral edema
Figure 74.1 The histological appearance
of the liver of a child who died from
Reye syndrome. The hepatocytes have
accumulated fat droplets which causes a pale
appearance.
93
NOTES
NOTES
• • EPILEPSY& SEIZURES
• Idiopathic seizures/epilepsy disorder
( PATHOLOGY & CAUSES ) , Most common
• Disorders
• Seizure: brain neurons---'> abnormal,
excessive, synchronized electrical activity , Brain injury, brain abscess, brain tumors,
period eclampsia, encephalitis, Angelman
syndrome
° Clusters of brain neurons temporarily
impaired (seconds-minutes) ---'> • Cerebrovascular disease
paroxysmal electrical discharges---'> , lntracranial bleeding; perinatal hypoxia,
disordered awareness, behavior, ischemia; ischemic stroke
movement • Systemic disorders
0---'> too much excitatory, too little , Uremic encephalopathy, hepatic
inhibitory activity encephalopathy, electrolyte imbalances,
hypoglycemia, thiamine deficiency,
vitamin 812 deficiency
CAUSES
• Many unknown causes; some known Nonepileptic seizures
causes (e.g. brain infection): • ---'> fainting spell, psychological conditions,
O j excitation: long-lasting/fast activation stress, not epileptic brain activity
of NMDA receptor via glutamate
0 ! inhibition: genetic mutations ---'>
dysfunctional GABA receptors ( s,_G_NS_&_S_Y_M_PT_O_M_
)
• Causation ---'> classification
• Subtle signs
Provoked seizures , Spacing out, unusual sensations, brief
• Triggers---'> abnormal brain activity; subside muscle jerks
once trigger removed • Life-threatening
• Medication , Generalized muscle contractions > five
O Aminophylline, bupivacaine, bupropion, minutes
butyrophenones
• Recreational drugs
O Amphetamines, cocaine, ( D_IA_GN_O_s,_s
__ )
methylphenidate, psilocybin, psilocin
• Alcohol consumption/ withdrawal DIAGNOSTIC IMAGING
• Flashing lights MRI/CT scan
O Photosensitive epilepsy • Detects structural brain abnormalities {brain
• Fever tumors or vascular disorders)
°Febrile seizures
Epileptic seizures LAB RESULTS

• Recurring, unpredictable seizures; brain • Electrolytes: blood glucose: complete
dysfunction ---'> abnormal brain activity; blood cell count; liver, renal function; serum
seizures triggered calcium; urinalysis
94
O Assess possible underlying infection, MNEMONIC: SICk DRIFT3R
genetic condition, metabolic disorder, Differential diagnosis for
other causes seizures
Substrates: sugar, oxygen
OTHER DIAGNOSTICS lsoniazid
Cations: Na, Ca, Mg
Electroencephalogram (EEG)
Kids: pregnancy/eclampsia
• Detects abnormal, epileptiform brain
Drugs
electrical activity
Rum: alcohol withdrawal
Clinical history Illnesses: chronic
• Assess type of seizure; differentiate Fever
between primary, secondary seizures Trauma
Neurological exams 3 "antis": antihistamine,

antidepressant,
• Assess behavior, motor abilities, mental
anticonvulsants
functions ----> underlying seizure cause, type
Rat poison
( T_R_E~_~_M_EN_T__ )
MEDICATIONS
Epilepsy
• Antiepileptic medication
O Depends on type of seizures, age,
lifestyle, and comorbidities
OTHER INTERVENTIONS
Provoked seizures
• Address trigger
ABSENCE SEIZURE
osmsJl:/ e1\>senee-sei2uTe
CAUSES
( PATHOLOGY & CAUSES ) • Cause e- abnormal neuronal activity
unknown
• Formerly called petit mal seizures
• Generalized seizure; brief loss of
awareness/responsiveness; sudden onset, COMPLICATIONS
termination; usually no postictal state • May progress into generalized tonic-clonic
• Most common in children; can occur seizures
50-100 times/day; often misdiagnosed as • Learning difficulties
inattentiveness, daydreaming • Behavior problems
95
(e.g. lip smacking, chewing motions, eyelid
flutters)
• Possible sign of coexisting seizure types
• No recollection of seizure
( D_IA_GN_o_s,_s __ )
DIAGNOSTIC IMAGING
MRI/CT scan
• To rule out brain abnormalities
OTHER DIAGNOSTICS
EEG
• Shows generalized spike-and-slow wave
discharges
Figure 75.1 An EEG taken from an individual
having an absence seizure. • Easily induced by hyperventilation (most
reliable test)
(__ s,_G_NS_&_S_Y_M_PT_O_M_s_) ( T_R_E~_~_M_EN_T__ )

• Sudden loss of awareness, responsiveness • Usually resolves as child ages
- from few seconds-half a minute
• Blank stare MEDICATIONS
• Preceding activity ceases
• Ends abruptly or followed by automatisms Anticonvulsant medication
• Valproic acid (drug of choice in case
of other coexisting types of seizures).
ethosuximide (only for absence seizures)
EPILEPTIC SEIZURE
osmsJl/epilep-lie-seizuTe
Generalized seizures
( PATHOLOGY & CAUSES ) • Affect both brain hemispheres
' Subcategories: tonic seizures, atonic
• Recurrent. unprovoked seizures - epilepsy
seizures. clonic seizures, tonic-clonic
symptoms
seizures. myoclonic seizures, absence
seizures
TYPES
Focal (partial) seizures CAUSES
• Affect one brain hemisphere • Seizures genetididiopathic
O Subcategories: Focal aware seizure; • Cerebrovascular disease
focal impaired awareness seizure , lntracranial bleeding; perinatal hypoxia,
96
ischemia; cerebrovascular insult • Tonic-clonic seizures
• Neurological disorder/illness O Tonic phase - muscles suddenly stiffen;
O Brain tumors, metastases; brain injury; clonic phase - muscles rapidly contract,
brain abscess; encephalitis; eclampsia; relax
Angel man syndrome; multiple sclerosis; • Myoclonic seizures
systemic lupus erythematosus O Short, one/multiple muscle twitches over
• Systemic disorders short time
O Uremic encephalopathy; hepatic • Absence seizures
encephalopathy; electrolyte imbalances O Loss of awareness/responsiveness;
(hypercalcemia, hyponatremia); staring spell
hypoglycemia, hyperglycemia; thiamine,
pyridoxine, vitamin 812 deficiency Generalized seizures often - postictal
state
• Confusion, drowsiness, sleepiness, total
COMPLICATIONS
amnesia for hours
• Injury - falling, drowning, car crash during
attack Todd's paralysis or paresis
• Pregnancy complications - seizures during • May follow; affects arms/legs, usually
pregnancy; - antiepileptic medication - limited to one side
teratogenic effects O Lasts about 15 hours; temporary, but
• Status epilepticus severe suppression of brain activity in
° Continuous seizure activity> five seizure-affected area
minutes - permanent brain damage,
death
• Sudden unexpected death in epilepsy ( D_IA_G_N_os_,s )
(SUDEP) - frequent tonic-clonic seizures,
inadequate antiepileptic treatment DIAGNOSTIC IMAGING
MRI/CT scan
(__ s,_G_NS_&_S_Y_M_PT_O_M_s_) • Detect structural brain abnormalities (brain
tumors, vascular disorders)
Focal seizures
• Focal aware seizure LAB RESULTS
O No awareness impairment; motor, • Electrolytes, blood glucose and calcium
sensory, autonomic, psychological levels
sensations • Assess possible underlying infection,
• Focal impaired awareness seizure genetic condition, metabolic disorder,
O May include automatisms (e.g. lip other causes
smacking, chewing, swallowing,
unpurposeful walking, etc.) OTHER DIAGNOSTICS
Generalized seizures • 2: two unprovoked seizures required for
epilepsy diagnosis
• Tonic seizures
O Sudden, continuous muscle EEG
contractions; causes falling, often
• Detect abnormal, epileptiform electrical
backwards
brain activity
• Atonic seizures
O Sudden muscle relaxation; causes Neurological exam
falling, often forwards • Assess behavior, motor abilities, mental
• Clonic seizures functions - underlying cause, type of
seizure
O Rhythmic muscle contractions
(convulsions)
97
, If unsure: broad spectrum
(..____ T_R_E~_~_M_EN_T
) anticonvulsants (effective for all types):
valproate, lamotrigine, topiramate
MEDICATIONS
Anticonv
ulsant medications SURGERY
• Depends on type of seizures, age, lifestyle, • Surgical resection in certain cases (e.g.
comorbidities brain tumors or vascular disorders)
° Focal epilepsy: lamotrigine,
oxcarbazepine, carbamazepine
O Generalized epilepsy: valproate,
lamotrigine, ethosuximide (only for
absence seizures)
FEBRILE SEIZURE
osmsJl/fe\>Tile-seizuTe
RISI( FACTORS
• Genetic susceptibility
• Triggered by fever • Age 6 months-5 years
• Exact mechanism unknown; proposed • Infections
explanations , Usually common infections, e.g. otitis
O r body temperature during fever e- r media
excitability of neurons
Hyperventilation during fever e- !
O
C02 levels-« respiratory alkalosis e- j C__ s,_G_Ns_&_s_v_M_PT_O_M_s

neuronal excitability
• High body temperature: >38° C/100.4° F
O r cytokine levels during fever e-
• Simple febrile seizure
enhancement of NMDA receptors----. l
O Presents as tonic-clonic seizures
O Tonic phase (muscles stiffen, go rigid) ----.
clonic phase (muscles rapidly contract,
TYPES relax) ----. convulsions
Simple febrile seizure (most common) n Followed by postictal state, residual
• Affects whole body (tonic-clonic seizures) arm/leg weakness
• Lasts < 15 minutes

• Does not repeat within 24 hours C D_IA_GN_O_SI_S
__ )
Complex febrile seizure
LAB RESULTS
• If 1/3 criteria met
• Laboratory studies
O Affects specific body part corresponding
• Lumbar puncture to distinguish from other
to specific brain part
underlying causes of fevers, seizures (e.g.
O Lasts > 15 minutes
encephalitis, meningitis)
O Repeats within 24 hours
98
MEDICATIONS
( T_R_E~_~_M_EN_T
__ ) • Anticonvulsant
= Complex febrile seizures
• Simple febrile seizures usually resolve by
themselves • Antipyretic medications (ibuprofen,
acetaminophen)
• Fever management
FOCAL SEIZURE
osms.i"l/foee1l-sei2uTe
• Psychological symptoms
( PATHOLOGY & CAUSES ) • Sudden unusual feeling of sadness,
happiness, fear, anger; feelings of
• Seizure that initially stems from localized
derealization (environment is not real) or
brain region; limited to one hemisphere
depersonalization (dissociation from the
environment or self); feeling of deja vu
TYPES • Speech difficult/impossible
Focal aware seizure Focal impaired awareness seizure

• Affects small brain area • Impaired consciousness
• Individual awake. alert; remembers seizure • Often preceded by aura (symptoms of focal
aware seizure)
Focal impaired awareness seizure
• May involve automatisms (e.g. lip smacking,
• Unilaterally affects larger area of one chewing, swallowing. unpurposeful
cerebral hemisphere walking, etc.)
• Individual loses awareness. responsiveness; • Amnesia (no recollection of seizure)
does not remember seizure
• May develop into a secondary generalized
seizure (focal onset bilateral tonic-clonic
seizure) ( D_IA_GN_O_SI_S
__ )
DIAGNOSTIC IMAGING
MRI/CT scan
• Identify structural brain abnormalities (brain
Focal aware seizures
• Symptoms may be subtle. last ;:=: two
minutes. vary by affected lobe
O Preserved consciousness LAB RESULTS
• Motor symptoms • Blood tests
O Twitching, muscle jerking • Detect possible underlying infection,
genetic condition. metabolic disorder.
• Sensory symptoms
other causes
O Unusual auditory, gustatory, tactile,
olfactory sensations
• Autonomic symptoms
O Sweating. piloerection. dilation of pupils.
incontinence. unusual feelings of nausea
99
OTHER DIAGNOSTICS
(..__ __ T_R_EA_~_M_EN_T
)
EEG
• Detect epileptiform, abnormal electrical MEDICATIONS
brain activity • Anticonvulsant medications
, E.g. lamotrigine, oxcarbazepine,
Neurological exam
carbamazepine
SURGERY
, E.g. brain tumors, vascular disorders -
surgical resection
MYOCLONIC SEIZURE
osms.i"l/ m14oelonie-seizu Te
( PATHOLOGY & CAUSES ) C__s,_G_Ns_&_s_v_M_PT_O_M_s_)

• Type of generalized seizure; presents with • Brief body jerks; most commonly facial
myoclonus muscles, limbs
, Sudden, brief, involuntary muscle jerks • Preserved consciousness, recollection of
lasting 1-2 seconds seizure
• Epileptic; non-epileptic, e.g. physiologic
while falling asleep, waking up; myoclonic
jerks - nervous system disorders, ( 0_1A_GN_o_s1_s __ )
metabolic abnormalities, etc.
• Associated with epileptic syndromes: OTHER DIAGNOSTICS
, Juvenile myoclonic epilepsy EEG
, Progressive myoclonus epilepsy • Detect abnormal, epileptiform electrical
, Myoclonic epilepsy with ragged-red brain activity
fibers (MERRF)
, Lafora disease
, Unverricht-Lundborg disease (..____ T_R_EA_~_M_EN_T )
, Neuronal ceroid lipofuscinosis
MEDICATIONS
• Anticonvulsant medication
COMPLICATIONS °Clonazepam, valproate, levetiracetam;
• May become generalized tonic-clonic carbamazepine, oxcarbazepine,
seizures pregabalin, others contraindicated
100
STATUS EPILEPTICUS
osms.i"l/ s-lo.-lus-epilep-lieus
rigid), followed by clonic phase (muscles
( PATHOLOGY & CAUSES ) rapidly contract, relax) - convulsions
• NCSE
• Medical emergency involving one acute
O Prolonged/repeated absence or focal
prolonged seizure ::::: five minutes or multiple
impaired awareness seizure
seizures occurring close together without
recovery between O Long-lasting stupor, staring;
unresponsiveness
TYPES
• Convulsive status epilepticus (CSE) ( D_IA_GN_O_SI_S
)
• Nonconvulsive status epilepticus (NCSE)
• Continuous seizure lasting > five minutes
or recurrent seizures without regaining
CAUSES consciousness in between them for> five
• Epilepsy minutes
O Usually triggered by medication change/
inadequate treatment
• Alcohol consumption/fasting while on
DIAGNOSTIC IMAGING
anticonvulsant MRI/CT scan
• Acute cerebral injury • Detect structural brain abnormalities
• Brain disorders
O Brain tumors, brain injury, brain abscess,
LAB RESULTS
encephalitis
• Identify underlying cause
• Systemic process/illness
O Uremic encephalopathy, hepatic
encephalopathy OTHER DIAGNOSTICS
• Cerebrovascular disease EEG
O lntracranial bleeding, cerebrovascular • Detect abnormal, epileptiform electrical
insult brain activity
• Eclampsia
COMPLICATIONS ( T_R_E~_~_M_EN_T
)
• Delayed treatment - irreversible
neurological damage
MEDICATIONS
• Immediate application of benzodiazepines
• Prolonged muscle activity - hyperpyrexia,
followed by antiseizure drug phenytoin
acidosis
• If uneffective
, Valproic acid, phenobarbital, propofol, or
) ketamine
• CSE OTHER INTERVENTIONS

O Prolonged/repeated tonic-clonic • Oxygen, intravenous fluids
seizures
O Tonic phase (muscles stiffen and go
101
TONIC-CLONIC SEIZURE
osms.i"l/-lonie-elonie-seizure

)
• Formerly called grand mal seizure DIAGNOSTIC IMAGING
• Characterized by tonic (rigid) stage and
MRI/CT scan
clonic (convulsion) stage
• Detect structural brain abnormalities (brain
• Most common seizure type
• May occur as one or multiple episodes as
part of epilepsy disorder
• Can initiate in both brain hemispheres LAB RESULTS
(generalized tonic-clonic seizure) or initiate • Electrolytes; blood glucose, calcium levels
in one and spread to both (focal to bilateral , Identify possible underlying infection,
tonic-clonic seizure) genetic condition, metabolic disorder,
• Episode > five minutes - status epilepticus other causes
OTHER DIAGNOSTICS
)
EEG
• May be preceded by unusual sensations, • Detect abnormal epileptiform electrical
e.g. visual, auditory, olfactory hallucinations; brain activity
dizziness (called an aura)
• Characterized by two phases
O Tonic phase: rigid, stiffening muscles; C T_R_E~_~_M_EN_T
__ )
contracting chest muscles - cry/groan;
biting of tongue, cheeks MEDICATIONS
O Clonic phase: muscles rapidly, • Antiepileptic medication
rhythmically contract, relax; elbows, , Valproate, lamotrigine, topiramate,
hips, knees bend, relax; urinary/fecal phenytoin
incontinence
• Tonic-clonic seizure - postictal state
SURGERY
°Confusion, drowsiness, sleepiness. total
• Surgical resection for brain tumors, vascular
amnesia for hours after seizure
disorders
• May be followed by Todd paralysis/paresis
for minutes-hours following seizure
102
NOTES

c PATHOLOGY & CAUSES ) ( DIAGNOSIS )
• Ocular disorders with infectious, DIAGNOSTIC IMAGING
noninfectious etiologies----. inflammation, • Fundoscopy
damage to eye structures
CT scan/MRI
• Orbits, sinuses
RISI( FACTORS
• lmmunocompromised state, contact with
infectious agent, ocular trauma, certain LAB RESULTS
systemic diseases • Giemsa/Gram stains; cultures
COMPLICATIONS OTHER DIAGNOSTICS

• Range from benign, self-limiting to vision- • Snellen chart
threatening infections
c SIGNS & SYMPTOMS ) c

MEDICATIONS
TREATMENT )
• Structural damage, functional impairment • Antimicrobials
OTHER INTERVENTIONS
• Address comorbidities
103
CHALAZION
osmsJl:/ eho.lo.zion
may demonstrate diffuse inspissation of
( PATHOLOGY & CAUSES ) yellowish contents from eyelid margin
orifices
• Firm, painless lipogranulomatous
inflammatory lump in eyelid; caused by
blockage of ocular sebaceous glands
O Deep chalazion: inflammation of
meibomian sebaceous glands
O Superficial chalazion: inflammation of
Zeis sebaceous glands
• Gland obstruction - impissation
(decreased flow of secretions) -
granulomatous inflammatory response -
lipogranuloma inflammation - lesion forms
on upper (most common)/lower eyelid
• Slow growing; may persist for weeks/
months; deeper within eyelid than
hordeolum (stye)
RISI( FACTORS Figure 76.1 A chalazion of the left upper

• Rosacea, seborrhea, blepharitis, inflamed eyelid.
hordeolum
COMPLICATIONS
• If large chalazion presses on cornea -
visual changes
• Recurring chalazion: may signal carcinoma
(rare)
(.___s,_G_NS_&_S_Y_M_PT_O_M_s
)
• Eyelid erythema; swelling; firm, nodular,
rubbery consistency
of a chalazion. There is granulomatous
( D_IA_GN_O_s,_s
__ ) inflammation with giant cells, numerous
macrophages as well as neutrophils and
OTHER DIAGNOSTICS eosinophils surrounding a nidus of lipid.
• Clinical history, physical examination
• Histological examination: chalazia may
indicate eyelid carcinoma
Slit-lamp
• Determine status of meibomian glands;
104
OTHER INTERVENTIONS
( T_R_E~_~_M_EN_T
) • Warm, wet compresses encourage
drainage
MEDICATIONS
• Ocular cleansing pads applied to eyelid
• Recalcitrant chalazia: intralesional steroid
margin
injection
• Treat comorbidities (e.g. blepharitis,
rosacea)
SURGERY • Small chalazion may resolve on own
• Recalcitrant chalazia: incision, curettage
CHORIORETINITIS
osmsJl/ehoTioTe-lini-lis

• Inflammation of choroid, retina; AKA • Floaters (vitritis). blurred vision, impaired
posterior uveitis color/night vision, ocular pain, photophobia,
excessive lacrimation
CAUSES
Infectious ( D_IA_G_N_OS_IS)
• Bacterial: tuberculosis, syphilis
• Viral: cytomegalovirus, West Nile virus,
DIAGNOSTIC IMAGING
herpes simplex virus (HSV) 1 Fluorescein angiography
• Parasitic: toxoplasmosis, onchocerciasis • Irregularities
• Fungal: Candida albicans
Fundoscopy
Noninfectious • Creamy white/yellow/gray lesions; keratic
• Sarcoidosis, Behest's disease, traumatic precipitates; retinal edema, necrosis;
chorioretinitis chorioretinal atrophy, neovascularization;
cotton-wool infiltrates (Candida-associated
chorioretinitis); polymorphic retinochoroidal
RISI( FACTORS scars (toxoplasmosis-associated
• Immunodeficiency, contact with infectious
chorioretinitis)
agent, traumatic eye injury, systemic
disease associated with chorioretinitis
OTHER DIAGNOSTICS
COMPLICATIONS
• Retinal hemorrhage/detachment, visual
impairment with macular involvement
C T_R_E_AT_M_E_N_T
__ )
MEDICATIONS
• Corticosteroids/antimicrobials
105
Figure 76.3 A retinal photograph displaying
the features of chorioretinitis. There are
numerous, patchy, cream-colored lesions and
retinal edema.
CONJ"UNCTIVITIS
osms.i"l/ eonjune-livtlis
• Common causes: Staphylococcus aureus,
( PATHOLOGY & CAUSES ) Streptococcus pneumoniae, Haemophilus
influenzae
• Inflammation of conjunctiva, transparent
• Hyperacute bacterial conjunctivitis
mucous membrane covering inside of
= Causes: Neisseria gonorrhoeae (most
eyelids (tarsal conjunctiva), globe (bulbar
common)/Neisseria meningitidis
conjunctiva)
= Oculogenital disease: usually
= Non-keratinized epithelium containing
transmitted from genitals to eyes via
goblet cells, highly vascularized
hands
substantia propria
O Vision-threatening
= Turns pink/red when inflamed: diffuse
conjunctiva! injection • Chlamydia!
• Infection, inflammation----> dilatation = Caused by Chlamydia trachomatis
of conjunctiva! vessels ----> conjunctiva I = Adult inclusion conjunctivitis: chronic,
hyperemia, edema ----> inflammatory indolent
discharge O Trachoma: infectious blindness cause
worldwide; active trachoma caused
by serotypes A, B, Ba, C (low-income
TYPES
country-endemic, mostly in children):
Infectious (bacterial) initial follicular inflammation progresses
in severity----> cicatricial disease, vision
• Highly contagious; spread by direct contact
loss
106
Infectious (viral) • Infected eye "stuck" shut from morning
• Highly contagious; spread by direct contact crusting; gritty, burning sensation (viral);
• Causes: adenovirus (most common), HSV itching (allergic); photophobia (corneal
(in children), varicella zoster virus (VZV) involvement); transient visual impairment
O Ocular manifestation of systemic • Preauricular lymphadenopathy
infection
O Epidemic keratoconjunctivitis (EKC):
caused by adenovirus 8, 19, 37;
fulminant conjunctivitis, keratitis
(epithelium of conjunctiva. cornea);
corneal inclusions degrade visual acuity
Noninfectious (allergic)
• Caused by airborne allergens (seasonal,
perennial)
• lmmunoglobulin E (lgE)-mediated----> local
mast cell degranulation
Figure 76.4 The clinical appearance of
Noninfectious (nonallergic) conjunctivitis.
• Caused by mechanical/chemical insult
RISI( FACTORS ( D_IA_GN_O_SI_S __ )

• Exposure to causative agent,
immunocompromised state, atopy (allergic LAB RESULTS
conjunctivitis) • Adenoviral conjunctivitis: rapid point-of-
• Contact lens wear: common source of care adenovirus antigen test
mechanical injury, nonallergic, infectious • Recalcitrant conjunctivitis: conjunctiva!
conjunctivitis biopsy (rule out neoplasm)
Giemsa/gram stains
COMPLICATIONS • Confirm identity of organism in suspected
• Cornea: keratitis (inflammation), ulcer, infectious cause
perforation, scarring
• Dacryocystitis (bacterial infection of lacrimal
sac)
OTHER DIAGNOSTICS
• Vision loss
( s,_G_Ns_&_s_v_M_PT_O_M_s _....) ( __ T_R_E~_~_ME_N_T__ )

• Appearance: unilateral/bilateral
MEDICATIONS
inflammation; pinkish-red eye; eyelid • Ocular lubricant drops/ophthalmic ointment
edema; chemosis (conjunctiva! edema); • Allergic conjunctivitis: antihistamine drops
excessive lacrimation • Adult inclusion conjunctivitis: systemic
• Discharge therapy to eradicate Chlamydia infection
O Bacterial: purulent/mucopurulent; white/ (antibiotics)
yellow/green • Bacterial conjunctivitis: Topical antibiotic
O Gonococcal: hyper-purulent, profuse drops/ointment
O Viral: watery; stringy • Epidemic keratoconjunctivitis (EKC): topical
glucocorticoids
O Allergic: watery, mucoid
O Nonallergic: mucoid
107
OTHER INTERVENTIONS
• Warm, wet compresses encourages
drainage
• Hyperacute conjunctivitis, EKC: immediate
specialized ophthalmologist referral
• Viral conjunctivitis: self-limiting; usually
resolves in 2-3 weeks
l(ERATITIS
osms.i-l/lce,-o.·tJlis
• lmmunocompromised state
( PATHOLOGY & CAUSES ) • Topical (ocular) corticosteroid use
• Contributing disorders: rosacea;
• Cornea inflammation ----. corneal tissue
keratoconjunctivitis sicca (dry eye
destruction
syndrome); neurotrophic keratitis (lesion on
• Inflammatory response----. stromal damage
cranial nerve VJ; autoimmune diseases (e.g.
from infection, host response ----. edema.
rheumatoid arthritis, cicatricial pemphigoid)
infiltrates, necrotic ulceration, focal thinning,
perforation
COMPLICATIONS
• Endophthalmitis (interior eye inflammation),
CAUSES
intraocular damage, vision loss, keratolysis
Infectious (corneal melting)
• Bacteria: Staphylococcus aureus,
Pseudomonas aeruginosa. coagulase-
negative Staphylococcus, diphtheroids, (__ SI_G_NS_&_S_Y_M_PT_O_M_
Streptococcus pneumoniae
• Erythema
• Viruses: HSV. herpes zoster
• Preauricular lymphadenopathy
• Fungi: Candida supp., Aspergillus supp.,
Fusarium supp. • Discharge: mucopurulent (bacterial). watery
(viral)
• Parasites: Acanthamoeba
• Corneal opacity, stromal infiltrate (immune
Noninfectio
us complex deposits). ulcer
• Corneal inflammation with no known , Bacterial keratitis: yellow infiltrates
infectious etiology , Fungal keratitis: white infiltrates,
feathery borders
RISI( FACTORS , Acanthamoeba: Wessely ring infiltrate
• Corneal epithelium disruption • Hypopyon (layer of white cells in anterior
°Contact lenses (contact lens-related chamber): fulminant bacteria
keratitis); esp. improper use (e.g. • Foreign body sensation; difficulty keeping
overnight wear, poor hygiene) eye open; photophobia; pain; decreased
visual acuity, blurred vision; blepharospasm
O Recent keratoplasty, trauma. corneal
exposure (e.g. Graves' ophthalmopathy,
Bell's palsy)
108
Penlight
• Visualizes infiltrate/ulcer(> 0.5mm); round,
white spot (bacterial keratitis)
Fluorescein dye
• Corneal uptake of dye
O Visualize loss of epithelial cells,
ulceration
O Green glow under cobalt blue light
Figure 76.5 An individual with sterile keratitis
O Diffuse white opacity/dull corneal light
of the left eye.
reflex
O Seidel sign (leaking aqueous humor
- fluorescein streaming): penetrating
( D_IA_GN_O_SI_S
__ ) trauma
DIAGNOSTIC IMAGING Snellen chart

• !visual acuity
Fundoscopy
• Slit beam; examine contour abnormalities of
cornea, lens. retina; small corneal infiltrates; ( T_R_E_AT_M_E_N_T __ )
faint branching grey opacity (viral keratitis)
MEDICATIONS
LAB RESULTS • Topical antimicrobials for infectious etiology
• Corneal scrapings, cultures: suspected

infectious etiology OTHER INTERVENTIONS
• Control of associated comorbidities
OTHER DIAGNOSTICS • Temporary discontinuation of wearing
• Clinical history, physical examination contact lenses
ORBITAL CELLULITIS
osmsJl/ or\,i-lC1l-eellultlis
RISI( FACTORS
( PATHOLOGY & CAUSES ) • More common in children
• Migration from other infections
• Serious infection involving contents of orbit
(ocular muscles, surrounding fat; not globe)
OBacterial rhinosinusitis: Staphylococcus
aureus. streptococci (common); fungal
rhinosinusitis (rare)
CAUSES O Dacryocystitis: lacrimal sac infection
• Entry of microorganisms into orbital space O Infected mucocele: mucus-containing
O Via anatomical perforations of nerves, cystic lesion of salivary gland
blood vessels in paranasal sinuses (e.g. O Infections involving teeth, middle ear.
ethmoid)
face
O Migration from surrounding tissues (e.g.
• Direct inoculation: ophthalmic surgical
face, eyelids) after local trauma/surgery procedures; orbital trauma with fracture/
O Inflammatory response - tissue foreign body
destruction
109
COMPLICATIONS LAB RESULTS
• Extraorbital extension: epidural/subdural
Complete blood count (CBC)
empyema; brain abscess; meningitis;
cavernous sinus thrombosis; dural sinus • Leukocytosis; l absolute neutrophil count
thrombosis; involvement of cranial nerves (ANC)
Ill, IV, V, VI; optic neuritis
Blood/orbital/subperiosteal aspirates cul-
• Endophthalmitis: interior eye inflammation tures
• Vision loss • Identify causative organism
• Potentially fatal if sepsis develops
OTHER DIAGNOSTICS
(__ s,_G_NS_&_S_Y_M_PT_O_M_s_) • Clinical history, physical examination
• Ocular motility: pain with movement
Systemic • Pupillary light reflex: sluggish/absent reflex
• Fever; severe headache, vomiting, mental ----. optic nerve involvement
status changes (intracranial complications) • Exophthalmometry: measures degree of
proptosis
Ocular
• Asses color vision acuity: determines optic
• Red, swollen eyelids; chemosis nerve involvement
(conjunctival edema); pain (esp. with eye
• lntraocular pressure measurement (t)
movement); ophthalmoplegia (paralysis
of eye muscles); proptosis (abnormal
displacement of eye); impaired visual acuity,
color vision; abnormal pupillary light reflex
( T_R_E~_~_M_EN_T__ )
MEDICATIONS
( D_IA_GN_O_s,_s __ ) • Antimicrobials

• External (through orbit)/endoscopic
CT scan/MRI
transcaruncular approach
• Orbits, sinuses; detects abscess,
intracranial changes
Dilated fundoscopy
• Determines optic neuropathy/retinal
vascular occlusion
110
111
PERIORBITAL(PRESEPTAL)
CELLULITIS
osmsJl/ pe,-(o,-\,i-lal-celluli-lis

• Mild infection of superficial tissues of • Ocular pain, eyelid swelling, erythema,
anterior eyelid (tissues anterior to orbital fever, lymphadenopathy
septum); more common than orbital
cellulitis
( D_IA_GN_O_s,_s
__ )
CAUSES DIAGNOSTIC IMAGING
• Introduction/migration of microorganisms
into preseptal space: Staphylococcus Contrast-enhanced CT scan (orbits, sinus-
aureus, Streptococcus pneumoniae, other es)
streptococci, anaerobes • Distinguishes between preseptal, orbital
cellulitis; associated sinusitis
RISI( FACTORS
• More common in children LAB RESULTS
• Migration from other infections: sinusitis;
upper respiratory tract infection; CBC
dacryocystitis; bacteremia (rare) • Leukocytosis
• Direct inoculation: trauma (e.g. insect bites,
Cultures (abscess contents, paranasal sinus
animal bites, introduction of foreign bodies);
secretions)
ophthalmic surgical procedures
• Identify causative agent
COMPLICATIONS
OTHER DIAGNOSTICS
• Orbital cellulitis
( T_R_E~_~_M_EN_T
__ )
MEDICATIONS
• Oral antibiotics
Figure 76.6 An individual with left-sided

periorbital cellulitis.
112
STYE (HORDEOLUM)
osms.i"l/s-l14e
( PATHOLOGY & CAUSES ) (__ SI_G_NS_&_S_Y_M_PT_O_M_s

)
• Blockage, purulent inflammation of upper/ • Tenderness; fluctuant pustule; localized
lower eyelid swelling, erythema; excessive lacrimation;
photophobia
CAUSES
• Sterile/bacterial (e.g. Staphylococcus ( D_IA_GN_O_SI_S
)
aureus, Staphylococcus epidermidis)
Internal
DIAGNOSTIC IMAGING
• Meibomian sebaceous gland; points toward Slit lamp, fundoscopy
conjunctiva I side of lid---'> conjunctiva! • Determine infection extension to other
inflammation tissues
External
• Zeiss/Moll sebaceous glands; points toward OTHER DIAGNOSTICS
skin surface of eyelid • Clinical history, physical examination
• Visual acuity assessment
RISI( FACTORS
• Touching eyes with contaminated hands,
chronic blepharitis, seborrhea, improper ( T_R_E~_~_M_EN_T
__ )
contact lens hygiene, sleeping with eye
makeup, immunocompromised state MEDICATIONS
• Topical antibiotic ointment
COMPLICATIONS
• Hardens v- chalazion SURGERY
• Incision, curettage: if progresses to
chalazion
OTHER INTERVENTIONS
• Warm compresses encourage drainage
• Usually self-limiting with spontaneous
resolution
Figure 76.7 A stye on the right lower eye

lid.
113
Acute Chronic
Usually infectious Noninfectious
Internal styc Deep chalazion

- Involves meibomian gland - Involves meibomian gland
- Lesion points toward
conjunctiva! side of lid Superficial chalazion
- Involves Zeis glands
External stye
- Involves Zeiss/Moll glands Lesions are deeper than hordcolum
- Lesion points toward skin
surface of eyelid
Yes No; possible mild tenderness
Purulent Lipogranulomatous
Small, fluctuant Large. firm, rubbery, nodular
Self-limiting with May wax, wane; often lasts

spontaneous drainage for months
May evolve into chalazion if

May be sign of eyelid carcinoma
healing compromised
UVEITIS
osms.tl/ uvei-lis
TYPES
(....__P_AT_H_Ol_O_G_Y_&_C_AU_S_E_s_)
Anterior (most common)
• Inflammation of uveal tract (choroid, ciliary • Anterior uveal tract; iritis, iridocyclitis
body, iris); unilateral/bilateral (inflammation of ciliary body)
• Onset: rapid/insidious
Panuveitis
• Course: acute/recurrent/chronic
• Anterior chamber, vitreous body, retina/
• Duration: persistent (> three months)/
choroid
limited (s three months)
Posterior uveitis
• Retina/choroid
114
Intermediate uveitis LAB RESULTS
• Vitreous body; chorioretinal inflammation
Microscopy, cytology, culture, polymerase
chain reaction (PCR)
CAUSES • Fluid sampling/biopsy; identify presence of
• Bacterial: tuberculosis, syphilis infectious agent
• Viral: cytomegalovirus, HSV
• Fungal: candidiasis, Pneumocystis jirovecii OTHER DIAGNOSTICS
• Parasitic: Acanthamoeba, toxoplasmosis • Clinical history, physical examination
• Noninfectious systemic: Crohn's disease,
ankylosing spondylitis Snellen chart
• Conditions confined to eye: trauma, acute • !visual acuity
retinal necrosis
Pupillary light reflex
• Sluggish pupillary reaction to light -
RISI( FACTORS synechiae
• Systemic infectious, inflammatory
conditions lntraocular pressure
• No change if uncomplicated uveitis; j in
acute uveitis-induced glaucoma
COMPLICATIONS
• lntraocular hypertension, glaucoma;
increased intraocular pressure; posterior ( T_R_E~_~_M_EN_T__ )
synechiae (iris adheres to lens); band
keratopathy (corneal calcium deposits); MEDICATIONS
cataract; vision loss
• Corticosteroids: topical, local injection,
implantable, systemic
• Recalcitrant uveitis: immunomodulatory
(__ s,_GN_S_&_S_Y_M_PT_O_M_s_) agents (if corticosteroid response
inadequate)
• Ocular erythema
• Recalcitrant uveitis: tumor necrosis factor
• Impaired vision
(TNF) inhibitor (if resistant to treatment)
• Pain, photophobia, vision distortion, floaters
• Posterior synechiae prevention: mydriatid
(vitritis), photopsia (flashing lights)
cycloplegic medications
• Viral-associated uveitis: antivirals
( D_IA_GN_o_s,_s __ )
DIAGNOSTIC IMAGING
Fluorescein/indocyanine green angiography
(posterior uveitis)
• Evaluate status of retinal vascular
circulation; identify choroidal disease
Fundoscopy
• Ciliary flush: perilimbal redness
• Keratic precipitates: inflammatory deposits
on cornea
• Hypopyon: white blood cells settle on
bottom of anterior chamber
Figure 76.8 An individual with a hypopyon
• Haziness of aqueous humor: protein
of the left eye as a result of severe anterior
accumulation
uveitis.
115
NOTES
NOTES
• • GLOBE PATHOLOGY
( PATHOLOGY & CAUSES ) ( T_R_EA_:T_M_EN_T
)
• Disorders affecting eye structures; if MEDICATIONS
untreated - severe visual impairment • Corneal ulcer
• Due to damage to cornea, retina. lens, optic , Antimicrobial, steroid eye drops;
nerve analgesics
• Inherited/acquired • Age-related macular degeneration (ARMD)/
diabetic retinopathy (DR)
COMPLICATIONS O lntravitreal injections of vascular
endothelial growth factor (VEGF)
• Impaired vision, blindness
antagonists
• Glaucoma
) Beta blockers, O alpha agonists
• Early stages often asymptomatic SURGERY

• Visual changes • Cataract
, Small incision; removal of opacified lens
( D_IA_GN_o_s,_s) , Alternative: leaving lens capsule intact
(extracapsular cataract extraction). eye
without lens (aphakic eye)
DIAGNOSTIC IMAGING
• DR
Direct/indirect fundoscopy O Laser photocoagulation of peripheral
• Visualize retina retina, vitrectomy
• Glaucoma
OTHER DIAGNOSTICS O Laser surgery, trabeculectomy,
• Clinical presentation: history; visual acuity, peripheral iridotomy
field loss
Slit lamp
OTHER INTERVENTIONS
• ARMD
• Visualize sclera, conjunctiva. iris. lens.
, Vitamin, antioxidant supplements;
cornea
smoking cessation
• DR
, Glucose. blood pressure control
116
AGE-RELATED MACULAR
DEGENERATION (ARMD)
osmsJl/ maeula,--degene,-a-lion
hyperlipidemia
• Acquired degenerative disease of macula COMPLICATIONS
- loss of central vision; peripheral vision • Severe visual impairment: impacts
preserved; most common cause of severe functional status, quality of life; complete
visual impairment in older adults in high- loss of vision rare
income countries
• Results from damage to photoreceptors of
macula (..___s,_G_NS_&_SY_M_PT_O_M_s
)
• Unilateral/bilateral; contra lateral eye at high
risk • Early stages: often asymptomatic; blurred
vision; metamorphopsia (straight lines seen
curved)
TYPES • Loss of central vision; gradual progression
in nonexudative, rapid over weeks/months
Nonexudative ARMD
in exudative
• AKA dry/atrophic; most common
• Drusen: extracellular deposits between
Bruch membrane, retinal pigment (..____ D_IA_GN_O_s,_s)
epithelium (RPE)
O l size, number of soft drusen - l risk of DIAGNOSTIC IMAGING
progression to advanced ARMD
• RPE changes: geographic atrophy, Fluorescein dye retinal angiography
detachments, subretinal clumping • Fluorescein leaks from abnormal vessels
Exudative ARMD Optical coherence tomography

• AKA wet/neovascular; less common • Retinal edema/subretinal fluid
• Neovascularization: abnormal vessel
Amsler grid
formation under retina originating from
• Individual holds grid at 36-41cm/14-16in,
choroidal circulation, penetrating through
looks at center dot
Bruch membrane beneath RPE - leakage
of serous fluid, blood - collections, fibrosis • Curvy lines, blurry spots, scotomas
Direct/indirect fundoscopy
RISI( FACTORS • Nonexudative ARMD
• j age; > 65 most common • Drusen: white-yellowish, round/oval
• Family history: associated with deposits
polymorphisms in complement regulatory O Retinal atrophy: round patches of
genes, esp. complement factor H (CFH) depig mentation
• More common in individuals who are O RPE clumping: increased pigmentation
biologically female, white people of
• Exudative ARMD
Ashkenazi Jewish descent
• Neovascularization: gray discoloration
• Smoking, intense light exposure, heavy
O Subretinal fluid/hemorrhage
alcohol use, obesity, hypertension,
117
OTHER DIAGNOSTICS
• Clinical presentation: history; ! visual
acuity, visual fields (central vision loss)
( T_R_EA_~_M_EN_T__ )
MEDICATIONS
• Exudative ARMD
O lntravitreal injections of
VEGF antagonists to reduce
neovascu la rization
O Alternative: photodynamic therapy;
injection of photosensitive dye
verteporfin - damages neovascular
endothelium; application of photo- Figure 77.1 Drusen in the macula of individual
activating laser with age-related macular degeneration.
OTHER INTERVENTIONS
• No curative method; therapy aimed at
slowing progression
• Vitamin, antioxidant supplements
• Nonexudative ARMD
O Smoking cessation
CATARACT
osms.i"l/eC1-lC1TC1et
nucleus (cortex)
( PATHOLOGY & CAUSES ) • Mild degradation of vision
• Painless, gradual decline in vision due to Posterior subcapsular

opacification of lens • Opacification in posterior cortical layer
• Proteins deposit on lens - reduce under lens capsule
transmission of light to retina - decrease • Rapid progression
in vision
• Often bilateral but asymmetrical; congenital/
acquired RISI( FACTORS
• Age-related cataract; usually> 60
• Smoking, excessive alcohol use, prolonged
TYPES drug use (esp. glucocorticoids), exposure to
Nuclear UV light, eye trauma/infections, radiation of
intraocular tumor, trisomies (13, 18, 21)
• Opacification of lens nucleus
• Metabolic diseases: diabetes mellitus,
• Slow progression of vision loss
Wilson disease, galactosemia, myotonic
Cortical dystrophy
• Opacification of lens fibers surrounding
118
COMPLICATIONS
• Blindness (if untreated) (__ SI_G_NS_&_S_Y_M_PT_O_M_s_)
• Secondary posterior subcapsular cataract
• Painless visual impairment; progresses
due to migration of lens epithelium
slowly over many years
posterior cortical layer
• Myopic shift: improvement in
Secondary glaucoma nearsightedness before decline in vision;
• Phacolytic lens sclerosis ----. increase in refractive
power
O Lysed lens proteins clog trabecular
meshwork ----. t pressure • Blurry vision, poor vision at night, dullness
of colors
• Phacoanaphylactic
• Glare, halos around bright lights;
O Autoimmune reaction to proteins----. j
predominant in cortical cataract
pressure
• Phacomorphic
O Swollen lens e- closed angle glaucoma (.____ D_IA_GN_O_SI_S
__ )
Surgery
DIAGNOSTIC IMAGING
• Residual lens epithelial cells migrate over
capsule----. opacification, reduction in vision Slit lamp
• Endophthalmitis, bullous keratopathy, • Loss of lens transparency
intraocular lens dislocation, cystoid macular
edema, retinal detachment Indirect/direct fundoscopy
• Toxic anterior segment syndrome • Degree of lens opacity
O Inflammation of anterior segment due to • Obscuration of fundus details
noninfectious contaminants of surgical • Darkening of normal red reflex from fundus
equipment
OTHER DIAGNOSTICS
• Clinical presentation: history; ! visual acuity
( T_R_EA_:l"_M_EN_T
__ )
SURGERY
• Small incision
Phacoemulsification
O of lens,
implantation of synthetic intraocular lens
• Removal of opacified lens (alternative)
O
Leaving lens capsule intact
Figure 77.2 The eye of a 50-year-old male
with a cataract.
119
CORNEAL ULCER
osms.i"l/ eoTnee1l-uleeT
( PATHOLOGY & CAUSES ) ( T_R_EA_:l'_M_EN_T

)
• Inflammatory condition of cornea; usually MEDICATIONS
intecttous-« dissolution of corneal stroma • Antimicrobial eye drops
• Presents as open corneal sore • Analgesics for pain control
• AKA ulcerative keratitis • Steroid eye drops after treatment of
• Exudate, cells leak into anterior chamber v- infection to reduce swelling, prevent
form hypopyon if sufficient quantity scarring
CAUSES SURGERY
• Bacteria, fungi, viruses (esp. herpes • Corneal transplantation to replace damaged
simplex, zoster), protozoa (e.g. cornea if scarring decreases vision
Acanthamoeba)
RISI( FACTORS
• Improper usage of contact lens, corneal
abrasions, eye burns, xerophthalmia (i.e.
dry eye), eyelid disorders, steroid eye drops,
vitamin A deficiency
)
• Red eye, severe pain, soreness, discharge
(tearing, pus). eyelid swelling, blurred
vision, vision loss, photophobia
( D_IA_GN_O_SI_S
)
Figure 77.3 A corneal ulcer caused by herpes
DIAGNOSTIC IMAGING simplex keratitis viewed with fluorescein
• Slit lamp under a UV lamp. The ulcer has a classical
• Reveals corneal ulcer/hypopyon dendritic pattern.
• Fluorescein dye
O Ulcer margins (absorbed by exposed
corneal stroma, appears green)
• Herpes simplex ulcers
O Typical dendritidgeographic pattern
OTHER DIAGNOSTICS
120
DIABETIC RETINOPATHY (DR)
osmsJf:/ dia\,e-lic-Te-linopa-f:h14
microaneurysms, microocclusions,
( PATHOLOGY & CAUSES ) exudates, nerve-fiber layer infarcts (cotton
wool spots), intraretinal hemorrhage,
• Type of retinopathy affecting individuals macular edema
with diabetes mellitus - vision loss
• Long-standing diabetes mellitus/poor
glycemic control - chronic hyperglycemia
OTHER DIAGNOSTICS
- retinal vascular changes (e.g. abnormal • Ophthalmologic screening: annual
vascular permeability, vascular occlusions) screening suggested for individuals with
- ischemia - production of VEGF - diabetes
formation of abnormal blood vessels • Clinical presentation: !visual acuity
(neovascularization)
TYPES
Proliferative DR
• Presence of neovascularization
Nonproliferative DR
• Absence of neovascularization; majority
of cases; can progress to proliferative;
hypertension, fluid retention exacerbate
condition
COMPLICATIONS
• Visual loss due to
O Macular edema (most common); vitreal Figure 77.4 A retinal photograph
hemorrhage from neovascularization; demonstrating proliferative diabetic
retinal detachment; neovascular retinopathy. There are cotton wool spots and
glaucoma as well as neovascularisation of the retina.
)
(.____ T_R_EA_:T_M_EN_T
)
• Usually asymptomatic until late stages
• Decreased/fluctuating vision; presence
MEDICATIONS
of floaters. flashes of lights (photopsias); • lntravitreal VEGF inhibitors for proliferative
scotomas DR. significant macular edema
SURGERY
( D_IA_GN_O_s,_s) • Laser photocoagulation of peripheral retina
• Vitrectomy for vitreous hemorrhage/
DIAGNOSTIC IMAGING
severe proliferative DR nonresponsive to
Direct/indirect fundoscopy photocoagulation
• Thickening of basement membrane,
121
OTHER INTERVENTIONS
• Glucose, blood pressure control to reduce
progression of nonproliferative DR
GLAUCOMA
osms.i"l/ glo.ueomo.
family history
Closed angle
• Group of eye disorders; intraocular • I age, family history, biologically-female
hypertension damages optic nerve - individuals of Asian descent, hyperopia,
progressive peripheral visual field loss medications (e.g. mydriatic eye drops).
• Aqueous humour drainage pathway pseudoexfoliation
becomes partially/completely blocked -
fluid cannot easily drain out - pressure of
COMPLICATIONS
anterior chamber builds up - intraocular
hypertension (pressure> 21mmHg/2.8kPa) • If untreated, blindness
- affects eye structures - atrophy of outer
rim of optic nerve - peripheral vision loss
• lntraocular pressure increases - continued
damage to optic nerve - ganglion cell loss
Open angle
- loss of central vision
• Asymptomatic
TYPES Closed angle

• Chronic: often asymptomatic, peripheral
Open Angle Glaucoma
vision loss
• Angle between cornea, iris; most common
• Acute (ophthalmic emergency): abrupt
• Increased aqueous production/decreased onset of severe eye pain, redness, blurry
outflow vision/vision loss. headache, nausea, halos
• Secondary to uveitis, vitreous hemorrhage, around lights. fixed mid-dilated pupil,
retinal detachment conjunctiva! redness, corneal edema
Closed Angle Glaucoma

• Narrowing/closure of anterior chamber ( D_IA_GN_O_s,_s
__ )
angle - inadequate drainage of aqueous
humor - increased intraocular pressure - DIAGNOSTIC IMAGING
optic nerve damage
• Acute: rapid buildup of pressure Tonometry
• j intraocular pressure
Normal Tension Glaucoma
• Genetic hypersensitivity to intraocular Direct/indirect fundoscopy
pressures in normal range • Cupping: hollowed-out appearance of optic
nerve (thinning of outer rim)
• Increased cup-to-disc ratio; > 0.5
RISI( FACTORS
suggestive of glaucoma
Open angle
Slit lamp
• j age, black people of African descent,
• Special lens to visualize angle (gonioscopy)
122
OTHER DIAGNOSTICS O Open trabecular meshwork, increase
• Clinical presentation: history, I visual aqueous outflow (trabeculoplasty);
acuity, visual field (peripheral vision loss; destroy humor producing cells; create
central loss at late stages) new channel for aqueous humour
drainage
• Surgical trabeculectomy
( T_R_EA_~_M_EN_T__ ) n Create alternate drainage pathway
MEDICATIONS Acute closed angle

• Peripheral iridotomy with laser
Open angle O Small hole through iris for aqueous
• Beta-adrenergic receptor antagonists, humor drainage
carbonic anhydrase inhibitors, alpha
adrenergic agonists
0 ! production of aqueous humor
• Prostaglandin analogs, alpha adrenergic
agonists
O l outflow of aqueous humor
Acute closed angle
• Eye drops (e.g. beta-blockers, alpha
agonists); systemic (e.g. acetazolamide,
urea, mannitol, glycerol)
SURGERY
Open angle
• Laser surgery Figure 77.5 A photograph of the eye of an
individual with acute angle closure glaucoma.
There is ciliary flush and a hazy cornea.
RETINAL DETACHMENT (RD)

osms.l"l/Te-lino.1-de-lo.ehmen-l
TYPES
Rhegmatogenous
• Separation of retinal photoreceptors from • Most common
underlying retinal pigment epithelium • Full thickness retinal break - vitreous fluid
(RPE), choroid; if untreated leads - vision passes into subretinal space - retinal
loss detachment
• Detachment of neurosensory retinal • Causes
layer from underlying layers - ischemia, O Posterior vitreous detachment: most
progressive degeneration of photoreceptors
common, age 50-75, separation of
- vision loss
123
posterior vitreous membrane from retina • Tractional: smooth concave retinal surface;
due to natural age-related liquefaction minimal shifting with eye movements
of vitreous-« retinal breaks can occur in • Exudative: smooth retinal surface, shifting
areas of strong vitreoretinal attachment fluid
O Ocular trauma
Nonrhegmatogenous LAB RESULTS

• Vitreous traction • Diabetes: traction, exudative RD; find
underlying cause
O Abnormally strong vitreoretinal
adhesion ---'> contraction ---'> detachment;
proliferative diabetic retinopathy, OTHER DIAGNOSTICS
retinopathy of prematurity • Clinical history, physical examination
• Exudative
°Fluid accumulation between layers;
inflammatory conditions, choroidal (.____ T_R_EA_:T_M_EN_T__ )
neoplasms
SURGERY
• Laser photocoagulation/cryoretinopexy:
RISI( FACTORS
seal retinal breaks, prevent retinal
Rhegmatogenous detachment
• High myopia; lattice degeneration (thinning • Rhegmatogenous RD
of retinal periphery); family history; history = Pneumatic retinopexy: intraocular
of retinal detachment; ocular trauma; injection of gas to tamponade
previous intraocular surgery (e.g. cataract retinal break (along with laser or
surgery) cryoretinopexy)
= Scleral buckles: silicone
bands
COMPLICATIONS placed are sewed to sclera under
rectus muscles (along with laser or
• Vision loss, proliferative retinopathy
cryoretinopexy)
= Vitrectomy: removal of vitreous body to
( s,_G_NS_&_SY_M_PT_O_M_s_) reduce the effect of vitreous traction to
retina
• Sudden onset: floaters/flashes of light; if • Tractional RD
preceded by posterior vitreous detachment = Vitrectomy with scleral buckling
• Monocular vision loss: curtain drawn over
vision field
(.____ D_IA_GN_o_s,_s __ )
DIAGNOSTIC IMAGING
• ! visual acuity
Ocular ultrasound
• E.g. choroidal masses
• Traction. exudative RD; find underlying
cause
Direct/indirect fundoscopy axial plane demonstrating detachment of the
right retina.
• Rhegmatogenous: wavy appearance,
changes with eye movements. changes in
vessel direction
124
RETINOBLASTOMA
osmsJl/ l9e-l:ino\>lo.s-1:omo.
O Blood ----. lungs, bones, liver
( PATHOLOGY & CAUSES ) O Lymphatic vessels ----. conjunctiva,
eyelids, extraocular tissue
• lntraocular malignant tumor; affects
• Heritable retinoblastoma
children; presents as leukocoria
O Secondary malignancy (e.g. bone, soft
• Most common primary intraocular
tissue sarcomas)
malignancy of childhood; usually< two
years
• Associated with intracranial tumor
O Pinealoblastoma (trilateral
retinoblastoma)
• Mutational inactivation of both alleles of
retinoblastoma (RB1) gene located in
chromosome 13
TYPES
Heritable (40%)
• Germline mutations: inherited/de novo
• Presents at early age; bilateral/multifocal;
50% risk of passing to offspring
Nonheritable (60%)
• Somatic mutations in both alleles; negative
family history
• Presents later in life; unilateral Figure 77.7 The gross pathological
appearance of a retinoblastoma.
RISI( FACTORS
• Family history
• 13q 14 deletion syndrome
O Microdeletions in region 1 band 4
located in large arm (q) of chromosome
13
COMPLICATIONS
• Fatal if untreated; with prompt treatment,
survival > 95%
• Spreads via
°Choroid ----. sclera, orbit ----. destruction of
globe ----. vision loss
Figure 77.8 A child with retinblastoma
O Optic nerve----. brain causing whitening of the right pupil known as
O Subarachnoid space ----. contralateral leukocoria.
optic nerve, brain
125
)
• Leukocoria (abnormal white reflexion from
retina)
• Strabismus, nystagmus, red eye
(.._____ D_IA_GN_o_s,_s)
DIAGNOSTIC IMAGING
MRI (brain, orbits)
• T1 -weighted: bright
• T2-weighted: dark compared to vitreous
• Detect optic nerve involvement, associated
intracranial tumor
• Well-circumscribed, translucent, white
intraretinal mass
Ocular ultrasound Figure 77.9 An MRI scan of the head in the

• Normal globe size, calcification axial plane demonstrating a retinoblastoma of
the left globe.
LAB RESULTS
• Genetic testing
O Estimate risk in family members, future
offspring
OTHER DIAGNOSTICS
• Metastasis evaluation (e.g. bone marrow
aspiration, lumbar puncture)
C.._____ T_R_EA_~_M_EN_T
)
MEDICATIONS
• Local/systemic chemotherapy
O Preserve vision, optimize survival Figure 77.10 A retinoblastoma as seen on
fu ndoscopy.
SURGERY
• Cryopexy, laser photoablation, enucleation
O Preserve vision, optimize survival
126
RETINOPATHY OF PREMATURITY
osms.i"l/Te-1:inopa-1:h'4-of-pTe ma-I:uTi-l:'4
• Classification
( PATHOLOGY & CAUSES ) n Location: three concentric zones from
optic disc to periphery
• AKA retrolental fibroplasia
n Extent: retina divided in 12 parts (hours
• Proliferative retinopathy, occurs in preterm
of a clock)
infants; if untreated - vision loss
n Stage I: thin white demarcation line
• Common cause of childhood blindness
separating vascularized from avascular
• Premature birth interrupts development - retina
j risk of vascular insult
n Stage II: ridge of fibrous tissue into
• Supplemental oxygen administration - vitreous between vascularized.
disruption of normal angiogenesis - avascular retina
abnormal growth of blood vessels, fibrous
• Stage Ill: abnormal growth of
tissue affecting temporal part of retinal
fibrovascular tissue on ridge; extension
periphery
into vitreous
• Regress spontaneously in most cases
• Stage IV: partial retinal detachment
• Stage V: total retinal detachment
RISI( FACTORS • Plus disease: increased venous dilation,
• Gestational age < 30 weeks; birth weight tortuosity of posterior retinal vessels,
s 1.5kg/3.31bs; excessive oxygen therapy; vitreous haze
supplemental oxygen
OTHER DIAGNOSTICS
COMPLICATIONS • Screening of preterm infants
• Retinal bleeding. scarring
• Contraction of fibrovascular tissue - retinal
detachment - blindness (..____ T_R_EA_~_M_EN_T
__ )
• Refractive errors: myopia. anisometropia
• Squint/strabismus
MEDICATIONS
• lntravitreal injection of VEGF antagonists
• Glaucoma
SURGERY
(_~S_IG_N_S_&_S_YM_P_T_O_M_s
__ ) • Ablation of retina with laser
photocoagulation
• Blindness due to retinal detachment. if
untreated
(..____ D_IA_GN_O_s,_s)
DIAGNOSTIC IMAGING
Fundoscopy
• Direct/indirect following pupil dilation
o Disorganized growth of vessels. fibrous
tissue
127
Figure 77.11 A CT scan of the head in the axial
plane demonstrating increased density and
asymmetry of the globes in a one year old
biologically-female individual. The increase
in density is caused by retinal detachment
and subsequent fibrous reorganisation of the
vitreous.
128
NOTES
( PATHOLOGY & CAUSES ) • Fundoscopy (retinal hemorrhage),
neuro-imaging reveals characteristic
• External force to head - brain injury
intracranial injury (intracranial
(stretching, compression, impact, rotational)
hemorrhage, edema)
- cellular dysfunction
OTHER DIAGNOSTICS
(__ s,_G_NS_&_SY_M_PT_O_M_s
) • Concussion
• Mental-status change
• Consciousness loss
• Headache (~ __ TR_E_AT_M_E_N_T
)
• Irritability
• Lethargy SURGERY
• Significant injury
• Vomiting
• Drain ventricle if needed
• Seizure
• Drain intracranial hemorrhage if required
( D_IA_G_N_OS_IS) OTHER INTERVENTIONS

• Mild injury
DIAGNOSTIC IMAGING • Rest
• Concussion
o Neuro-imaging rules out more extensive
• Monitor intracranial pressure (ICP)
injury
129
CONCUSSION
osms.i"l/ concussion
impact point----. brain injury at contact
( PATHOLOGY & CAUSES ) point
, Contrecoup injury: brain may collide
• AKA mild traumatic brain injury
with skull opposite initial impact sight
• Direct blow to head, face, neck, other body during rebound
part transmitting to head-« acute, mildly
• Torque injury
traumatic brain injury----. mental status
, Rotational force e- different rotational
alteration, potential consciousness loss
velocity dependent on variable distance
• Concussion alters cellular functioning
from rotation's center, differing grey/
O Physical trauma ----. nerve cell membrane white matter density----. neuron
disruption ----. intracellular ion migration stretching (more severe injury----.
(potassium, calcium) to extracellular shearing)
space----. unregulated glutamate release
, Brain regions most affected: midbrain,
----. depolarization
diencephalon
O Ion shifts at axon level/axonal rupture----.
, Injury disrupts normal cellular activity
disrupted cellular oxidative metabolism
in reticular activating system ----.
----. cell death=- functional disturbance
consciousness loss
----. temporary (normal function) brain
impairment
O Ion regulation loss e- j membrane pump RISI( FACTORS
activity (e.g. sodium-potassium ion • Biologically-male
channels) ----. l ATP. glucose utilization • Contact sport, cycling injury, combat-
O Paradoxical ! cerebral blood flow----. related traumatic brain injury (TBI)
cellular energy crisis e- susceptible t • Hospital-admission history (intoxication-
further injury related)
O Excitatory neurotransmitters released • Low socioeconomic status
(e.g. acetylcholine. glutamate. aspartate) • Lower cognitive function
+ free-radical generation generation ----.
secondary injury
O Initial j glucose utilisation ----. !
COMPLICATIONS
energy-use metabolic state; neuronal • Seizure. intracranial hemorrhage, skull
suppression may persist weeks post- fracture, dementia pugilistica, j further
injury concussion risk
• Second-impact syndrome (SIS)
, Further head injury (post-concussion
CAUSES
period) during ! blood supply----. rapid
• Traumatic head injury (e.g. motor vehicle
cerebral edema
crash, combat. contact sport)
• Postconcussive syndrome (PCS)
• Force transmission (head/body injury)
O Persistent post-concussive
----. diffuse neuronal-level brain injury----.
neurocognitive symptoms
temporary (reversible) brain-function
loss ----. mental status alteration. +l- • Repeated concussion v- t later-life risk
consciousness loss with little/no resultant of chronic traumatic encephalopathy
imaging change (tau protein accumulation in neurons
----. neuronal deatb -e brain atrophy),
• Coup-contrecoup injury
Parkinson's disease, depression
Coup injury: compressive force at
°
130
( SIGNS & SYMPTOMS ) Neuropsychological testing
• Assess functional impairment (also
assesses recovery)
• Develop after initial injury, may continue
O Standardized Assessment of
developing days afterwards
Concussion (SAC)
• Physical
O Post-Concussion Symptom Scale and
O Headache; dizziness; vomiting; nausea;
Graded Symptom Checklist
concussive convulsion (immediately
O Sport Concussion Assessment Tool
post-injury); light/sound sensitivity;
(SCAT5)
tinnitus; cranial nerve impairment
(extraocular muscle weakness, vertigo, O Westmead post-traumatic amnesia
nystagmus); incoordination scale
• Cognitive
Blunted affect, confusion, difficulty
(..____ T_R_E_AT_M_E_N_T )
O
focusing attention, consciousness loss,

pre-/post-traumatic amnesia, sleeping-
MEDICATIONS
pattern change, slow answering
• Analgesia
questions, memory deficit
• Paracetamol, NSAIDS
• Emotional
• Avoid narcotics (prevent further
O Irritability, anhedonia, tearfulness,
consciousness-clouding)
restlessness
OTHER INTERVENTIONS
( D_IA_G_N_OS_IS) • Physical, cognitive rest (1-2 days)---->
gradual full-function return
DIAGNOSTIC IMAGING • Delay return to contact sport until
Contrast-CT scan/MRI complete symptom resolution
• Concussion ----> normal findings without • 24 hour observation period for neurological
deterioration (diagnostic findings---->
other injury
outpatient/in-hospital)
• Contusion, hemorrhage----> abnormality
• Functional single concussion recovery
(usually 48-72 hours), headaches (over 2-4
OTHER DIAGNOSTICS weeks)
Diagnostic criteria
• Consciousness loss:< 30 minutes
• Memory loss: < 24 hours
• Glasgow Coma Scale: score 13-15 (eye
opening, verbal/motor/orientation response)
• More severe symptoms ----> moderate/severe
traumatic brain injury
131
SHAl(EN BABY SYNDROME
osmsJl/ sho.ken-\,o.\,14-s14nd,-ome
COMPLICATIONS
( PATHOLOGY & CAUSES ) • Retinal hemorrhage (diffuse, multilayered);
subdural hemorrhage; diffuse brain injury;
• AKA abusive head trauma/shaking-impact
global hypoxia, ischemia; increased
syndrome
intracranial pressure, herniation; skull
• Child head injury caused by another person fracture; spinal cord/paraspinal injury;
• Traumatic shaking ---> child's head flung hemorrhagic shock open fontanelle, (cranial
violently back/forth (may strike surrounding sutures allow large blood accumulation)
surfaces/objects) ---> acceleration-
deceleration, rotational force e- bridging
vessels tear (subdural hematoma), diffuse (__ SI_G_NS_&_S_Y_M_PT_O_M_
axonal injury, oxygen deprivation, brain
swelling, j ICP • Trauma signs may be invisible
• Infant anatomv-« j neurological-injury risk • Retinal hemorrhage; long bone, rib fracture;
from shaking soft-tissue scalp swelling; bruising;
O Large head:body ratio, weak cervical irritability; poor feeding; lethargy, coma;
paraspinal muscles ---> acceleration- vomiting; seizure; bulging fontanel (i ICP)
deceleration force movement • Late, severe neurologic deterioration signs
O Thin, pliable infant skull ---> j force , Bradycardia, pupillary change
transfer across subarachnoid space
O Relatively flat skull base ---> I brain
movement with deceleration force ( D_IA_GN_O_s,_s
__ )
O Soft infant brain (i water content
compared to adult), incompletely- DIAGNOSTIC IMAGING
myelinated infant neurons---> ! blood
Brain CT scan/MRI
flow autoregulation
• lntracranial hemorrhage
, Hematoma; subarachnoid, subdural
RISI( FACTORS (most common), epidural hemorrhage;
• Age (often first year of life), abusive intraparenchymal bleeding
caregiver; caregivers hold unrealistic
• Cerebral contusion/edema
expectations of child; emotional stress;
• Uncal, subfalcine, transtentorial herniation
aggression; biological sex (male> female);
perinatal illness (e.g. premature birth, • Hypoxia/ischemia
O Loss of grey-white distinctions
difficult labor, hospitalization, congenital
conditions); incessant crying • Skull fracture
• Family/individual factors • Appendicular, axial skeleton survey
°Family dysfunction history (abuse, O Detects additional injuries
neglect; domestic violence; drug/alcohol
abuse) Fundoscopy
O Young/single parent, parental • Retinal hemorrhage (before intracranial
depression, low socioeconomic status pathology evident)
(financial stress), limited education,
X-ray
biologically-male > -female (stepfather/
maternal boyfriend) • Limb X-ray---> metaphyseal fractures
• Chest X-ray---> rib fractures
132
OTHER DIAGNOSTICS
• Diagnostic triad
O Subdural, subarachnoid hemorrhage
O Metaphyseal fractures (extremities flail
uncontrollably during shaking)
O Retinal hemorrhage
( T_R_E~_iT_M_EN_T__ )
SURGERY
• Monitor ICP - cerebral ventricle drainage
may be required
• lntracranial hematoma - drain blood
collection (when indicated)
Figure 78.1 An MRI scan in the coronal
OTHER INTERVENTIONS plane of an three month old female with
head injury secondary to abuse. There is
• Many countries have mandatory suspected
intraparenchymal hemorrhage as well as
child abuse reporting laws - report
sub-falcine and transtentorial herniation of
incident
the brain.
133
NOTES

• Cranial pain, disturbs everyday life DIAGNOSTIC IMAGING
CT scan/MRI
TYPES • Used to exclude other diseases
Primary O Unusual neurological symptomatology;
• Migraine, tension headache, cluster headache accompanied by l body
headache temperature, stiff neck; new headache in
individual with HIV/cancer
Secondary
• Headaches caused by other disorders
( T_R_EA_~_M_EN_T__ )
CAUSES MEDICATIONS
• Genetic, environmental factors; stress • Prophylactic management
O Prevention of further attacks
( SIGNS & SYMPTOMS ) • Symptomatic treatment

O Pain, symptom-management
• Unilateral/bilateral, localized/diffuse head medications
pain
• Nausea, vomiting, aura/autonomic
symptoms
CLUSTER HEADACHE
osms.i"l/elus-ler-heo.do.ehe
afferents travel to nucleus caudalis
( PATHOLOGY & CAUSES ) O Projection to thalamus, sensory cortex
- perception of pain
• One-sided headache in ophthalmic
O Hyperactivation
nerve distribution region with autonomic of parasympathetic
pterygopalatine ganglion - autonomic
symptomatology
symptoms
• Hypothalamus involvement
• Cavernous sinus walls inflammation - !
O Episodic occurrence of cluster attacks
venous flow - injury of internal carotid
• Posterior hypothalamic activation - artery sympathetic fibers
secondary trigeminal stimulation -
134
TYPES
( D_IA_GN_O_SI_S
)
Episodic
• Daily episodes over 6-12 weeks; "clusters" DIAGNOSTIC IMAGING
followed by remission period up to 12
CT scan/MRI
months
• Exclude possible cranial lesions
Chronic
• Episodes without substantial remission OTHER DIAGNOSTICS
period
• Requires each of following
• Five unilateral/orbital/supraorbital/
CAUSES temporal attacks; 1-8 episodes daily,~
• Unknown; possibly genetic three hours
= Agitation/restlessness
RISI( FACTORS • ~ one autonomic symptom on same side
• More common in individuals who are as headache
biologically male
• Stressful periods, allergic rhinitis, sexual
intercourse, tobacco, excessive alcohol use
( T_R_E~_~_M_EN_T
)
MEDICATIONS
COMPLICATIONS
Acute management
• Progresses episodic - chronic
• Supplemental oxygen/intranasal
sumatriptan/zolmitriptan
( SIGNS & SYMPTOMS ) O Initial treatment
• Intranasal lidocaine/oral ergotamine/lV
• Headache dihydroergotamine
O One-sided sharp, stabbing, burning O If initial treatment not effective
orbital/supraorbital/temporal head pain
Prophylaxis
• Autonomic
O lpsilateral
• Verapamil
conjunctiva! hyperemia with
lacrimation, nasal discharge, miosis, O Episodic attacks > two months/chronic
edema. drooping eyelid cluster headaches
• Episodes • Glucocorticoids (e.g. prednisone); can be
0 1-8 per day; lasts five minutes to three
used together with verapamil
hours • Lithium
• Restlessness, agitation. suicidal ideation O If other medications contraindicated
SURGERY
• Block greater occipital nerve
• Percutaneous radiofrequency ablation of
pterygopalatine ganglion
• Gamma knife radiosurgery
• Stimulation of pterygopalatine ganglion
• Posterior hypothalamus deep brain
stimulation
135
MIGRAINE
osms.i"l/ mig,-o.ine
TYPES
Migraine with aura
• Disease characterized by one-sided head • Typical aura migraine with/without
pain headache
• Probable mechanism • Brainstem aura migraine
O I neuronal hyperexcitability - cortical • Hemiplegic migraine
spreading depression wave across , Familial; types I, II, Ill
cortex - release of proinflammatory
, Sporadic
cytokines, matrix metalloproteinases
(MMP), nitric oxide (NO). glutamate. • Ocular migraine
adenosine triphosphate (ATP),
Migraine without aura
potassium ions from neurons/glial/
• Menstrual migraine
vascular cells - alters blood-brain
barrier - activates perivascular = Develops s two days before, continues
trigeminal nociceptors s three days after menstrual period
O Release of substance P, calcitonin • Chronic migraine
gene-related peptide, neurokinin A = ~ 15 headaches per month for z three
- neurogenic inflammation with months
meningeal blood vessels dilatation, = Analgesics, nonsteroidal anti-
protein exudation - further nociceptor inflammatory drugs (NSAIDs) overuse
stimulation biggest risk factor
O Projection of afferents to trigeminal
nucleus-pars caudalis - fibers relay to Probable migraine
thalamus, sensory cortex - perception • Attacks similar to migraine without one
of pain feature needed for migraine diagnosis
• Trigeminal nociceptors innervate anterior
head region, upper cervical dorsal roots CAUSES
innervate posterior head region - • Inheritance
converge in trigeminal nucleus caudalis -
, i neuronal excitability
characteristic pain distribution affecting
anterior, posterior head region • Familial hemiplegic migraine (FHM)
• Aura likely caused by depression spreading , Type I: CACNAlA gene mutation
to areas where perceived consciously , Type II: ATP1A2 gene mutation
• Serotonin receptors possibly involved in , Type Ill: SCNlA gene mutation
migraine pathogenesis
O Directly acting on blood vessels/ RISI( FACTORS
affecting pain pathways • Individuals who are biologically female, age
• If nociceptors stimulated too frequently - 30-39
neuronal sensitization, cutaneous allodynia • Stress, hormone oscillations, irregular
phenomenon (nociceptive response to non- eating/sleeping, weather. light, alcohol,
nociceptive stimuli) tobacco, odors
• Syndromes associated with migraine
, Recurrent gastrointestinal (GI)
disturbance; benign paroxysmal vertigo,
torticollis
136
COMPLICATIONS impairment to aphasia
• Status migrainosus • Subtypes
O Migraine lasting 2: 72 hours without O Brainstem aura: dizziness, double vision.
spontaneous resolution tinnitus, speech difficulties, altered
• Persistent aura without infarction consciousness
o 2: one week O Hemiplegic: aura usually includes one-
• Migrainous infarction sided motor weakness; vision, sensory
defects, t body temperature, seizures,
OPreceded by migraine attack with aura
coma
symptoms 2: one hour; retinal migraine
- permanent blindness
O Ocular: loss of vision/scotomas in one
eye; headache
• Migraine aura-triggered seizure
• Rebound headache due to medication
overuse ( DIAGNOSIS )
LAB RESULTS
(__ SI_G_NS_&_S_Y_M_PT_O_M_s_) • !serum N-acetyl-aspartate levels
• One-sided, pulsatile headache worsened

by physical activity, with maximum pain at OTHER DIAGNOSTICS
supraorbital location; followed by nausea,
vomiting, hypersensitivity to light and Non-aura migraine
sounds • Requires each of following
O May be accompanied by cutaneous • 2: five attacks: lasting 4-72 hours
allodynia phenomenon • 2: two of the following: one-sided,
• Prodromal symptoms (appear hours/days throbbing quality, moderately severe
before attack) pain, worsening with physical activity
O l irritability to light, sound, smells; • 2: one of following with headache:
yawning, food cravings, mood changes, nausea/vomiting; light, sound sensitivity
constipation/diarrhea
Migraine with aura
• Postdrome symptoms
O Lasting approx. one day after headache;
• Aura symptoms: visual, sensory, motor,
sudden movements - short-lasting
pain in previously affected regions; speech
exhaustion/tiredness/euphoria , 2: two of following: 2: one aura symptom
lasting 2: five minutes, followed by other
Aura aura symptomatology; auras lasting five
• Negative features (areas of vision loss) minutes-one hour; one aura, one-sided;
O Hemianopia/quadrantanopia, peripheral aura precedes headache that occurs
vision loss, spot-like scotomas, within 60 minutes
blurriness/blindness 0 2: two attacks: with listed characteristics
• Positive features
O Scintillating scotoma: glimmering
geometric shapes (e.g. zigzag line)
appearing centrally with expansion to
periphery; visual hallucinations
O Visual: most common
O Sensory: tingling sensations beginning
from one hand - arm. face - short-
lasting numbness
O Motor: facial/extremities weakness
O Language: progresses from mild speech
137
• Dexamethasone
(..__ __ T_R_E~_~_M_EN_T
) , Combined with symptomatic therapy -
! early headache recurrence rate
MEDICATIONS
• Antihypertensives
Mild/moderate O Beta blockers (propranolol/metoprolol/
• NSAIDs (e.g. aspirin, naproxen, diclofenac, timolol)
ibuprofen) ° Calcium channel blockers (verapamil/
• Paracetamol nifedipine)
O Angiotensin-converting enzyme
Moderate/severe inhibitors (ACEl)/angiotensin II
• Triptans receptor blockers (ARBs); e.g. lisinopril/
O Serotonin agonists; constrict blood candesartan respectively
vessels, alter pain pathways • Antidepressants
O Sumatriptan, zolmitriptan. naratriptan, O Tricyclic antidepressants (amitriptyline,
eletriptan nortriptyline, doxepin)
O Oral/nasal/subcutaneous administration O Serotonin-norepinephrine reuptake
O Triptan. NSAID combination; more inhibitors (SNRls) (e.g. venlafaxine)
effective than individual medications • Anticonvulsants
(e.g. sumatriptan, naproxen) O Topiramate/valproate
O Ergots (ergotamine)
• IV triptans
OTHER INTERVENTIONS
• Dopamine antagonists
• Complementary, alternative medicine
O IV metoclopramide; IV/IM
, Herbs: butterbur (Petasites hybridus),
chlorpromazine
feverfew (Tanacetum parthenium)
• Ergots (e.g. dihydroergotamine) O Supplementation: riboflavin, coenzyme
QlO, magnesium
TENSION HEADACHE
osmsJl/ -lension-hee1de1ehe
• Common (~ 14 headaches monthly)
Chronic
• Bilateral, "tightening" headache (most • 2: 15 headaches monthly
common headache type)
O j tenderness of pericranial myofascial
CAUSES
structures - activation of vasculature-
surrounding nociceptors - episodic • l muscle tenderness
TH - prolonged nociceptor stimulation • Combination of genetic, environmental
- pain pathway sensitization with factors
hyperalgesia - chronic TH , Episodic TH
• Multifactorial inheritance
TYPES Chronic TH
°
Episodic
RISI( FACTORS
• Rare (s one headache monthly)
• White individuals who are biologically
138
female of Ashkenazi Jewish descent
• Age 2:: 40
( T_R_E~_~_M_EN_T
)
• Stress, anxiety, depression, poor posture MEDICATIONS
Immediate symptoms
COMPLICATIONS
• Analgesics
• Rebound headache
• NSAIDs
• Paracetamol
• Caffeine
(__ s,_G_NS_&_S_Y_M_PT_O_M_s ) • Butalbital
= If contraindication for NSAIDs/caffeine-
• Moderate, bilateral, non-pulsating head combined analgesics
pain
O Band-like distribution, without Prophylactic management
worsening during physical activity, few • Antidepressants
minutes to one week = Tricyclic antidepressants (amitriptyline,
• Photophobia/phonophobia nortriptyline/protriptyline)
• Stiffness/tenderness of head, neck, • Mirtazapine/venlafaxine
shoulder muscles • Anticonvulsants
• Topiramate/gabapentin
( D_IA_GN_O_s,_s )
PSYCHOTHERAPY
OTHER DIAGNOSTICS • Behavioral, cognitive-behavioral,
biofeedback therapy
Requires each of following
• Absence of nausea, vomiting
OTHER INTERVENTIONS
• Light/sound hypersensitivity without other
• Acupuncture, heating/icing, resting for
aura symptoms
immediate symptoms
• 2:: two of following
O Both sides of head affected
O Non-throbbing quality
O Moderate intensity
O No worsening during physical activity
139
NOTES
NOTES
•• HEARING LOSS
c PATHOLOGY & CAUSES ) Weber
• Distinguishes between conductive,
• Decrease in ability to perceive sound
• Examiner places vibrating tuning fork
• Variable etiology
(128Hz) at apex of head - individual
o External, middle, inner ear, associated indicates loudest side
neurological input/processing structures
, One ear preferred/louder indicative of
possible hearing loss
(__ SI_G_NS_&
__SY_M_PT_O_M_S_)
Rinne
• Compares air, bone conduction of sound
• Hearing loss
• Balance issues, headache, tinnitus (512Hz) at mastoid process - individual
indicates when vibration heard - examiner
moves vibrating tuning fork outside of
__ ) pinna - individual indicates if vibration
heart
OTHER DIAGNOSTICS , Bone conduction (mastoid placement
• Bedside (otoscopy to Rinne) and formalized of tuning fork) > air conduction (i.e.
(audiogram) testing individual cannot hear vibration after
first step complete) indicative of possible
Otoscopy
hearing loss
Whisper test
Audiogram
• Examiner speaks in whispered voice
• Pure tones of varying frequencies (Hz) at
0.61m/2ft away - individual covers far
varying volume of sound
ear with hand - examiner whispers word/
• Plot individual's 50% correct response rate
phrase - individual repeats word/phrase
(dependent on volume) for each frequency
Finger rub
• Examiner speaks closer to pinna -
individual indicates if sound heard C..____ T_R_E_AT_M_E_N_T
__ )
• Specific to underlying etiology; some
etiologies irreversible
140
BC>AC AC > BC (both 11
Midline/equal in both ears Lateralizes to diseased ear Lateralizes to normal ear
CONDUCTIVE HEARING LOSS

osms.tl/ eondue-live-hee1Ting-loss
Eustachian tube dysfunction
( PATHOLOGY & CAUSES ) • Results in abnormal pressure/reflux/
clearance of middle ear contents
• Disability of sound waves
• Shorter eustachian tubes in children ----. j
O Unable to be amplified, transmitted by
reflux of nasopharynx contents=- otitis
external/middle ear
media
O Higher incidence in children with
CAUSES abnormal craniofacial anatomy (e.g.
Down syndrome, Treacher Collins
Bony outgrowth syndrome)
• Exostoses: form at suture lines of external
auditory canal bony suture lines; associated Otitis externa
with repeated cold water exposure (e.g. • AKA swimmer's ear
swimmers) • Commonly bacterial
• Osteomas: form at tympanosquamous O Pseudomonas aeruginosa (most
suture line common pathogen)
Cerumen impaction • Chronidrepeated infections ----. polyps (can
occlude external auditory canal)
• j Incidence in elderly
Otitis media
Congenital
• tnfection-» effuston=-. poor transmittance
• Microtia: malformation/absence of auricle;
of sound wave in middle ear----. hearing loss
1st, 2nd branchial arch derivative; mild-
moderate conductive hearing loss • Highest incidence
0 6-18 months of age
• External auditory canal atresia: associated
with craniofacial diseases (e.g. Treacher • Microbiology: Staphylococcus pneumoniae,
Collins syndrome, Robin sequence, Haemophilus influenzae, Moraxefla
Crouzon syndrome) catarrhalis
• Commonly of ossicular chain (most • Risk factors: daycare, bottle feeding
commonly malformation of stapes) ----. • Complications: mastoiditis, cholesteatoma.
inability to reverberate-e- ! sound wave permanent hearing loss e- deafness
transmittance to oval window
141
Otosclerosis
• Bony overgrowth of stapes to oval window
( T_R_E~_~_M_EN_T
__ )
- inability to vibrate - inability to conduct
• Specific to underlying etiology
sound waves; can be autosomal dominant
with variable penetrance
MEDICATIONS
Trauma
• External ear
• Complete external auditory canal occlusion
, Mild: topical acidifying agent,
Tumors of middle ear g lucocorticoid
• Cholesteatomas (most common overall) , Moderate/severe: topical/oral antibiotics
O Desquamated, stratified. squamous • Middle ear
epithelium in middle ear space O Pain control (e.g. ibuprofen,
O Accumulation - erosion of middle acetaminophen), antibiotics
ear contents (ossicular chain) -
surrounding structures: external SURGERY
auditory canal (EAC). mastoid bone
• External ear
• Squamous cell carcinoma (most common
, If repeat infections/t size
malignant tumor)
• Middle ear
Tympanic membrane perforation O Tissue graft
• Common; due to trauma/barotrauma to ear/ O Surgical removal
face
OTHER INTERVENTIONS
( SIGNS & SYMPTOMS ) • External ear
, Cerumenolytics/irrigation/manual
• Decreased perception of sound removal
O Especially poor perception of low- ' Repeat infections/t size: EAC occlusion
frequency sound • Middle ear
O Overcome by volume of stimulus O Hearing aids
(..____ D_IA_GN_o_s,_s__ )
OTHER DIAGNOSTICS
• History. associated symptoms
• Otoscopy
• Special testing
O Weber (localization of vibration to
affected ear)
O Rinne (abnormal; bone conduction > air
conduction)
• Audiogram
O Universal/low-frequency deficit in pure
tone discrimination
142
Cerumenolytics/
Cerumen impaction pruritus. reflex cough, Cerumen in EAC2 irrigation/manual
dizziness, tinnitus removal
Mild: topical acidifying

Ear pain. pruritus, Edematous,
agent. glucocorticoid
Otitis externa discharge; severe --+ erythematous EAC,
Moderate/severe:
regional LAD• mobile TM'
topicaVoral ABX'
Bulging, normal- Repeat intections/

Bony outgrowth None appearing EAC +/ TM I size: EAC
visualization occlusion, surgery
Ossicular Hearing aids,

None Normal
malformation surgery
Eustachian tube Surgery (including

Ear fullness Effusion behind TM
dysfunction tympanostomy tubes)
Discomfort with Pain control

exam, effusion, (ibuprofen/
Otitis media Fever, irritability
erythema, acetaminophen),
immobile TM antibiotics
Hearing aids,
surgery-+
Otosclerosis None Normal
stapedectomy/
prosthesis
Associated trauma Hole in TM,

Tympanic membrane None--+ (severe)
to surrounding visual of middle
perforation tissue graft
bones/tissue ear components
Malignancy Size-dependent Mass Surgical removal
1 - other than hearing loss itself, 2 - external auditory canal. 3 - lymphadenopathy, 4 - tympanic membrane, 5 - antibiotics
143
SENSORINEURAL HEARING LOSS
osms.i"l/ sensoTineuro.1-heo:ring-loss
• Unilateral, episodic loss concurrent with

( PATHOLOGY & CAUSES ) tinnitus, vertigo
, Pathogenesis: unknown; possible
• Disability of inner ear (cochlea/CN VIII)
infection, autoimmune, vascular
to transduce sound waves - viable
constriction, congenital malformation
neurologic input - brain
- endolymphatic hydrops (e.g.
overproduction of endolymph,
CAUSES distension of endolymphatic space)
Central nervous system (CNS) Noise-induced

• Acoustic neuroma (CN VIII; AKA vestibular • Cause: chronic exposure to loud (> 85dB)
neuroma) auditory stimuli
, j size - compress cerebellum - ataxia • Pathogenesis: overstimulation of hair cells
• Meningitis in organ of Corti - nitric oxide, free radical
release - damage, death of hair cells
O Infection (via cerebrospinal fluid) -
cochlea - cochleitis - direct damage • ! Mg2+ - !Ca2+ intracellular concentration
to inner hair cells - i cell damage, death
• Meningioma
Presbycusis
• Acoustic nerve neuritis • Most common
O Multiple sclerosis, syphilis • Gradual, symmetric hearing loss in elderly
Congenital • More significant loss with higher
frequencies
• Spontaneous/genetic
• Pathogenesis: degeneration of hair cells at
• Acquired
base of cochlea
O Toxoplasmosis, other (syphilis,
varicella-zoster, parvovirus 819), Trauma
rubella, cytomegalovirus (CMV), herpes
• Skull fracture - injury to CN VIII/cochlea
(TORCH) infections
Drug-induced
• Aminoglycoside antibiotics (most common);
cisplatin
• Decreased perception of sound (esp. high-
• Aspirin {high-dose 6-8g/day), quinidine,
pitched sounds, speech discrimination)
loop diuretics (e.g. furosemide, ethacrynic
acid) - reversible hearing loss, tinnitus
Inner ear infection

( D_IA_GN_o_s,_s __ )
• Labyrinthitis (inflammation, spinning,
ringing)
D1AGNOST1C 1MAG1NG
MRI
Meniere's disease
• Identifies causes such as acoustic neuroma,
• Rare
perilymphatic fistula
144
OTHER DIAGNOSTICS • Antibiotics
• History, associated symptoms n Meninges
• Otoscopy
O Rules out causes of conductive hearing SURGERY
loss • Surgical resection
• Special testing O Acoustic nerve
O Weber: lateralization of sound to
unaffected ear
O Rinne: air, bone conduction (AC > BC)
OTHER INTERVENTIONS
• Hearing aids
• Audiogram
O Hair cells of organ of Corti
O Identifies deficit in high-pitched pure
tone discrimination • Dietary changes (! Na-)
O Endolymph of labyrinthine systems
• Radiotherapy
( T_R_E~_~_M_EN_T__ ) O Acoustic nerve
MEDICATIONS
• Antiemetics, vestibular suppressants (e.g.
benzodiazepines), diuretics
perceiving spoken voice Hearing aids

in crowded rooms
Noise-induced
Hvpcracusls. tinnitus Hcarinq aids
hearing loss
Dietary change (l Na"),

antiemetics, vestibular
Meniere disease Episodic vertigo, tinnitus
suppressants (e.g.
Tinnitus. dizziness. HA2, Surgical resection,

Acoustic ncuroma
disequilibrium, ataxia radiotherapy
Ill-appearing, nuchal
Meningitis Antibiotics
rigidity, fever
HA, seizure, motor

Meningioma abnormalities. sensory Surgical resection
abnormalities
1 - in addition to hearing loss. 2 - headache
145
NOTES
NOTES
•• INCREASED INTRACRANIAL
PRESSURE
CAUSES
( PATHOLOGY & CAUSES ) • Cerebral edema (e.g. acute hypoxic
ischemic encephalopathy, trauma)
• Abnormal I intracranial pressure
• lntracranial space occupying lesion (e.g.
O Normal: 10-15mmHg (adults);
tumor, aneurysm, hemorrhage, etc.)
5-20mmHg (infants)
• l CSF production
Monro-Kellie hypothesis • Obstructive hydrocephalus
• Fixed cranial volume in skull • ! CSF absorption
• Three main components • Venous outflow obstruction
° Cerebrospinal fluid (CSF), blood, brain • Idiopathic intracranial hypertension
tissue
lntracranial compliance (ICC)

• Changes in intracranial content volume and
changes in intracranial pressure (ICP) • Deteriorating level of consciousness (early
• Slight I volume - compensatory sign)
mechanisms - slight l ICP • Headache
CSF displacement into thecal sac
°
• Nausea
O Venoconstriction/extracranial drainage • Vomiting
- ! cerebral venous blood volume • Ocular palsies
• Drastic volume increase - ! ICC - f lCP • Mydriasis (dilated pupils)
i ICP • Papilledema
• - compression of blood vessels - ! brain • Dyspnea
perfusion - brain ischemia - edema - • Back pain
ii ICP • Decorticate/decerebrate posturing
Cerebral perfusion pressure (CPP) =
°
mean arterial pressure (MAP)-ICP

0 ! CPP - j systemic blood pressure/ ( D_IA_GN_O_s,_s
__ )
vasodilation - j cerebral blood volume
- t ICP - ! ! CPP DIAGNOSTIC IMAGING
Nerve compression CT scan
• - impaired brain function • Mass lesions. midline shift, basilar cisterns
effacement
146
OTHER DIAGNOSTICS OTHER INTERVENTIONS
• ICP monitoring • Target---'> ICP < 20mmHg, MAP >
O lntraventricular catheter (gold standard) 90mmHg, CPP > 65mmHg
O lntraparenchymal fiberoptic catheter • Elevate head (30°) ---'> maximize venous
outflow
• Airway, breathing, and circulation (ABCs),
( T_R_E~_~_M_EN_T__ ) maintain adequate oxygenation
• Treat shock (if applicable): hypertonic
MEDICATIONS saline (HTS) (e.g 7.5%) to treat edema; HTS
• Sedation (propofol), osmotic diuretics, maintains high serum osrnolalltv-« reduces
prophylactic anticonvulsants cerebral edema (> 280 mOsm/L); f serum
osmolarity prevents intravascular fluid
leakage to brain tissue; t serum osmolarity
SURGERY draws excess water from brain tissue-« !
• Surgical removal of space-occupying lesion ICP
• Decompressive craniectomy • Hyperventilation
• Extraventricular drain (EVD)
BRAIN HERNIATION
osms.i-l/\>To.in-heTnie1-lion
site (craniectomy) ---'> decortication of
( PATHOLOGY & CAUSES ) herniated gyrus
• Brain tissue displacement: through skull lnfratentorial herniation

opening or dural fold • Tonsillar
• Damages associated with herniated section = Cerebellar
tonsils herniate in fora men
magnum ---'> brainstem, spinal cord
TYPES compression
Supratentorial herniation
CAUSES
• Cingulate/subfalcine
• t lCP
O Gyrus forced under falx cerebri ---'>
cerebral artery compression ---'> cerebral
ischemia then edema ---'> j ICP
• Uncal/transtentorial
° Cranial nerve (CN) compression in • Decorticate/decerebrate posturing
nerves Ill, IV, posterior cerebral artery • Seizures
---'> ipsilateral visual cortex ischemis -e • ! level of consciousness,
coma
• Glasgow Coma Scale (GCS) 3-5
• Central
• Mydriasis (dilated pupils)
O Temporal lobes squeezed through notch
• Irregular/slow pulse
in tentorium cerebelli ---'> basilar artery
stretched ---'> tearing, bleeding (Duret • Respiratory/cardiac arrest
hemorrhage) • Loss of brainstem reflexes (blinking,
• Transcalvarial gagging, pupillary reflex)
O Brain herniates through fracture/surgical
147
(..__ __ D_IA_GN_o_s,_s)
DIAGNOSTIC IMAGING
Head CT scan/MRI
• Depending on the cause, results show
mass lesions (e.g. tumor, aneurysm,
infarction, hemorrhage etc.) and
subsequent displacement of the brain away
from the mass, depending on localization
C..____ T_R_E~_~_M_EN_T
)
MEDICATIONS
• Osmotic diuretics
• Paracetamol (manage fever)
• Sedation/paralytic agents Figure 81.1 An MRI scan of the head in the
• ! metabolism - ! 02 consumption + ! C02 coronal plane demonstrating herniation of the
production - no systemic vasodilation - ! cerebellar tonsils secondary to hypoxic brain
cerebral blood volume - ! ICP injury.
• Prophylactic anticonvulsants
SURGERY
• Decompressive craniectomy
OTHER INTERVENTIONS
• HTS boluses - support circulation
O
HTS - l serum osmolarity - draw
excess water from brain tissue - ! ICP
• Hyperventilation
O Helps avoid j PaC02 or hypoxemia -
systemic vasodilation - l j cerebral
blood volume - j ICP

axial plane demonstrating a right sided acute
subdural hemorrhage. The pressure effect
has pushed the medial aspect of the right
cerebral hemisphere underneath the falx
cerebri, known as sub-falcine herniation.
148
IDIOPATHIC INTRACRANIAL
HYPERTENSION (IIH)
os,ns.lt/ldlopo.thlc-lntTo.cTe1nlo.l-h1JpeTtenslon

__ )
• AKA pseudotumor cerebri • Goal: treat symptoms/preserve vision
• Chronic T ICP, no obvious cause
MEDICATIONS
CAUSES • Carbonic anhydrase inhibitor
• j ICP - CN II compression - visual (acetazolamide) - I CSF production
impairment ° Contraindication: pregnancy
• Loop diuretics (furosemide) - !
RISI( FACTORS papilledema and ! mean CSF pressure
• Overweight, biologically female, fertile °Contraindication: pregnancy
individuals
SURGERY
• Optic nerve sheath fenestration (ONSF)
• Papilledema OTHER INTERVENTIONS
• Visual field loss • Weight loss
• CN palsies, typically CN VI (long intracranial
course)
• Headache
• Pulsatile tinnitus
• Photopsia (seeing flashes of light)
• Diplopia {double vision)
• Temporary visual disturbance
• Retrobulbar pain
• Back pain
( D_IA_GN_o_s,_s __ )
OTHER DIAGNOSTICS
• Headache & papilledema with
O No secondary cause of l ICP: normal
neuroimaging (MRI, contrast CT scan).
normal CSF composition Figure 81.3 A retinal photograph
demonstrating an expanded optic disc
O No malignant hypertension: mimics IIH
caused by intracranial hypertension.
O Lumbar puncture: l opening pressure
149
NOTES
NOTES
• • MOTOR NEURON DISEASES
• Group of degenerative motor neuron OTHER DIAGNOSTICS
diseases • History, physical examination (upper, lower
O Progressive muscle weakness, disability motor neuron signs)
• Muscle biopsy
CAUSES • Electromyography (EMG)
• Mainly genetic
( T_R_E~_~_M_EN_T__ )
( s,_G_NS_&_SY_M_PT_O_M_s_)
MEDICATIONS
• Muscle weakness, fatigue - disability • Emerging disease-modifying agents
(limited efficacy)
OTHER INTERVENTIONS
• Primarily supportive care
AMYOTROPHIC LATERAL
SCLEROSIS (ALS)
osms.i-l:/o.m140-l:rophie-lo.-l:ero.l-selerosis
antioxidant protein; located on chromosome
( PATHOLOGY & CAUSES ) 21q22
, Gain-of-function mutation - misfolding
• Progressive, degenerative motor neuron
- protein aggregation - direct
disease; upper, lower motor neuron signs
neuronal injury, unfolded protein
O AKA Lou Gehrig's disease response - death
• Genetic associations initiate protein , Interference with organelle autophagy,
aggregation - neuronal injury, death - proteasome function
retrograde neuronal degeneration - gliosis , Interference with axonal transport,
• Protein aggregation - neuronal injury, mitochondrial function
death - retrograde neuronal degeneration , Further protein sequestration within
- gliosis protein aggregate
• Superoxide dismutase 1 (SOD1): codes for
• C9orf72: codes for protein involved in
150
sending/receiving signals between neurons; COMPLICATIONS
located on 9p2 l.2; 40% of familial ALS • Frontotemporal lobar dementia (FTLD)
O Hexanucleotide repeat expansion , Oisinhibition, compulsivity, loss of
- long 5' end of RNA transcript - empathy
abnormal transcription, novel protein , Pseudobulbar affect (PBA): common;
production - aggregation inappropriate, labile, expressive
O Unknown specific pathogenesis emotions (e.g. crying, yawning)
O Accumulated, novel proteins; dead • Neuromuscular respiratory failure
neurons • Dysphagia - pneumonia
• TOP-43, FUS: RNA-binding genes
Abnormal RNA processing - abnormal
)
O
protein accumulation - neuronal injury ( SIGNS & SYMPTOMS

O Pathway not completely known
• Early symptoms
Inflammatory response , Asymmetric hand weakness -
• Cerebral inflammatory response primarily dropping of objects (e.g. glasses of
mediated by microglia, astrocytes water)
• Natural killer, peripheral T-cells, monocytes , Cramping of upper extremities
infiltrate, contribute to inflammation (common)
• Microglial response - nitric oxide, oxygen , Oysarthria, dysphagia, dysphonia
radical, cytokine, glutamate release - develop later
motor neuron cell death • Atrophy - ! strength - ! muscle bulk,
• 5001 mutations especially susceptible to abnormal tone - fasciculations
pathologic inflammatory response , Weakness - inability to ambulate -
wheelchair use
TYPES • Late symptoms
, Respiratory weakness - dyspnea -
Progressive motor atrophy respiratory infection
• Predominant lower motor neuron
, Recurrent bouts of cough, fever, chill -
degeneration
pneumonia
Primary lateral sclerosis
• Predominant upper motor neuron
degeneration
(....____ D_IA_GN_O_s,_s __ )
Progressive bulbar palsy (AKA bulbar ALS) LAB RESULTS
• Affected cranial nerves - abnormal • l creatinine kinase (due to muscle atrophy)
deglutition, phonation - ventilator support • Heavy-metal levels, lyme disease
required , Negative
• Poor prognosis
O Mortality rate > 50% at two years OTHER DIAGNOSTICS
• El Escorial criteria (all three required)
CAUSES , Evidence of lower motor neuron (LMN)
• Usually sporadic disease by clinical/electrophysiologic/
• Familial (5-10%) neuropathic examination
O Multiple genes (e.g. 5001) , Evidence of upper motor neuron (UMN)
disease by clinical examination
, Progressive spread of signs/symptoms
RISI( FACTORS within/outside of body region, as
• Family history, age, cigarette smoking determined by history/examination
• Family history
151
• Neurological OTHER INTERVENTIONS
O Upper, lower motor neuron signs • Nothing curative, management of symptom
• Psychiatric progression, severity
O Mental status examination - apathy, • Symptom management
disinhibition, PBA in FTLD individuals , Multidisciplinary approach: neurologists,
physical therapists, speech therapists,
EMG dietitians
• Helps differentiate from other , Respiratory management: ! aspiration
neuromuscular junction diseases event - ! rate of progression to
• Acute denervation tracheostomy, ventilator-dependence
° Fibrillations of muscle fibers - active , Respiratory evaluation every three
denervation - improper neuronal months after diagnosis
discharge - small-amplitude baseline
variance
• Chronic denervation
O Large amplitude, long duration, complex
motor potentials
O Denervation injury - I muscle fiber
recruitment, ! neuronal innervation
( T_R_E~_~_M_EN_T__ )
MEDICATIONS
Disease-modifying agents
• New to market, mild/modest benefit
• Riluzole
O Indicated for mild-moderate disease of «
five year duration
O Mechanism of action: I any Figure 82.1 Amyotrophic lateral sclerosis is
excitotoxic interplay by glutamate in also known as Lou Gehrig's disease. Gehrig
neuronal toxicity - ! rate of neuron played for the Yankee's and died of ALS at
degeneration, symptom progression the age of 37.
• Edaravone
O Mechanism of action: free-radical
scavenger - ! oxidative stress - ! rate
of neuronal death, symptom progression
• Symptom management
O Muscle spasms: quinine
O Muscle spasticity: muscle relaxants
152
Babinski sign1, pathologic deep
t spasticity ! tendon reflexes (DTRs)2,
pseudobulbar affect (PBA)
!flaccid ! !/absent Fasciculations
1 - Reflex great toe extension, fanning of other digits on lateral stimulation of plantar foot
2 - Cross-adduction at hip adductors
SPINAL MUSCULAR ATROPHY

osms.i"l/s ino.1-museulo.r-o.-lro h14
SMN2 pseudogenepointmutation
( PATHOLOGY & CAUSES ) • Encodes similar protein as SMN1
, Difference: exon 7 (c.840C> T)
• Genetically-mediated degenerative
neurologic disease of childhood ' j susceptibility for protein degradation
O Lower motor neuron weakness,
---. ! functional protein at baseline
muscular atrophy • SMN 1 deficient ---. SMN2 responsible for
SMN protein production-» poor production
• Survival of motor neuron-1 (SMN1) loss-
of viable protein ---. motor neuron cell death
of-function mutation ---. ! motor neuron
survivaf =- loss of alpha motor neurons ' Copy number variation correlates with
(even in utero) ---. degeneration of anterior clinical presentation
horn cells ---. denervated skeletal rnuscle-»
hypotonia, muscle atrophy R1SIC FACTORS
• Family history
CAUSES
SMN1 loss-of-function
mutation COMPL1CAT10NS
• Autosomal recessive • Sleep disturbance
• Encoded on chromosome 5q • Cardiac arrhythmias (esp. SMA 1, 2. 3)
• Multiple physiologic roles • Restrictive respiratory disease (esp. SMA

0,1)
O Sp/iceosome assembly: ! nuclear
expression of SMN1 in spinal muscular ' Diaphragmatic tnvolvernent-e
atrophy (SMA) respiratory collapse
• Dysphagia ---. aspiration ---. pneumonia
O Inhibition of caspase svstern. I SMN1
expression ---. disinhibition of caspase • Poor ambulation ---. delayed gastric
---. j caspase expression ---. cellular emptying ---. gastrointestinal (GI) reflux.
apoptosis constipation
O Unclear role in alpha motor neuron
(patho)physiology
153
(..___s,_G_Ns_&_sv_M_P_TO_M_s_)
C..____ TR_E_AT_M_E_N_T
__ )
• Lower motor neuron signs MEDICATIONS
o Proximal limb severity (more common
Experimental disease-modifying therapy
than distal), ! muscle strength, tone;
!/absent DTRs, muscle atrophy, • Nusinersen
fasciculations , Antisense oligonucleotide ----. binds
SMN2 mRNA----. ! exon 7 spllcinq=-. l
levels of functional SMN protein
( D_IA_G_N_O_SI_S
) , Limited effectiveness

• Neurological
• Pulmonary
o Fasciculations; ! muscle strength, tone;
, Secretion manaqernent=-. ! aspiration
DTRs
events ----. ! pneumonia
• Muscle testing
, Ventilator support (SMA 0,1)
oEMG
• Nutrition, GI
o Abnormal spontaneous activity,
, Manage food conslstencv-» !
fibrillations, positive sharp waves
aspiration
• Muscle biopsy
, Gastrostomy tube placement in SMA 1
o Large zones of severely atrophic
, Encourage ambulation ----. ! gastric
myofibers
emptying time----. ! constipation, GI
o Remaining innervated fibers v- reflux
unchanged/hypertrophied size
• Orthopedic, musculoskeletal
, Physical therapy
, Spinal bracing ----. ! scoliosis ----. !
incidence of restrictive lung disease
Figure 82.2 A muscle biopsy demonstrating

neurogenic atrophy as would be seen in
motor neurone diseases like spinal muscular
atrophy. Denervated muscle fiber bundles are
small and atrophied whilst those that remain
innervated retain their normal size.
154
! fetal movement in pregnancy, facial diplegia,
Prenatal < 6 months
congenital heart defects, arthrogryposis
Furrowed brow, paradoxical breathing,

< 6 months < 2 years bell-shaped chest. frog-leg posturing:
poor suck. swallowing reflexes
Sparing of face/eye muscles, tongue atrophy,

6-18 months 10-40 years
minipolymyoclonus1• scoliosis
Legs more likely than arms to display onset of motor

> 18 months Unchanged
symptoms, respiratory muscle weakness, scoliosis
> 5 months Unchanged Achieves all motor milestones, less severe
1 - Fine tremor-like variant of myoclonus, commonly affects distal limbs
155
NOTES
NOTES
• • MOVEMENT DISORDERS
• Motor abnormality
( PATHOLOGY & CAUSES ) , Hypokinesia: ! amplitude
, Bradykinesia: ! speed
• Disorders causing abnormal movement
, Dyskinesia: unwanted, characterized
O Increased voluntary/involuntary
motor movement
movement (hyperkinetic disorders);
reduced movement (hypokinetic , Tremor: rhythmic motor movement;
disorders) resting, action, postural
, Rigidity: abnormal, uncoordinated
muscle tone across joint
TYPES
Acute fulminant episodes
• Reaction to trigger, medication (neuroleptic
( D_IA_GN_O_SI_S __ )
malignant syndrome)
OTHER DIAGNOSTICS
Benign chronic conditions • Neurologic examination
• Restless legs syndrome {RLS), essential , Observation of spontaneous movement,
tremor strength testing, tone evaluation, reflex
exam
Progressive chronic syndromes
• Parkinson's disease (PD), Friedreich's ataxia
C T_R_E~_~_M_EN_T__ )
CAUSES
MEDICATIONS
• Often idiopathic; genetic mutations,
medication • Beta blockers. anti-epileptics,
benzodiazepines; dopamine replacement,
agonists
OTHER INTERVENTIONS
• Mild, unpleasant sensations, intention/ • Avoid caffeine, nicotine, etc.
action tremors: rigidity, catatonia • Educational, supportive therapy
156
ESSENTIAL TREMOR
osms.i"l/ essen-lio.1--l,-emoY-
( PATHOLOGY & CAUSES ) (.____ D_IA_GN_O_SI_S

)
• Most common movement disorder; OTHER DIAGNOSTICS
involuntary, rhythmic shaking • Postural/action tremor of hands/head;
• Usually affects hands, fingers; sometimes duration 2:: three year
head, vocal cords • Alleviation with alcohol intake
• Action tremor (occurs during muscle effort)
Physical examination
O Postural/intention tremor
• Fine postural, action tremor in hands, head/
voice
CAUSES • Asymmetridsymmetric: cogwheel rigidity,
• Unknown; may be familial with autosomal resting tremor, dystonia (esp. head)
dominant inheritance pattern
RISI( FACTORS ( T_R_E~_~_M_EN_T

)
• Meat consumption
MEDICATIONS
O Exposure to heterocyclic amines (e.g.
• If disabling, symptomatic treatment
harmane, harmaline)
O Beta blockers
• Associated with dystonia (cervical,
spasmodic, cranial dystonia, writer's O Anti-epileptics
cramp), parkinsonism O Benzodiazepines
O Botulinum toxin (head tremors not
responsive to medication)
• Rhythmic, symmetrical tremor
OTHERINTERVENTONS
• Avoid caffeine, nicotine, etc.
O Hands, head, vocal cords, neck, face,
leg, tongue, trunk • Get enough sleep
• High frequency tremor ( 4-12Hz)
exacerbated by muscle contraction
• Inability to perform precise tasks
• Intention tremor
O Intensifies upon touching nose with
finger
• Postural tremor
O During outstretched arms
• Walking difficulties
• ! tremor with alcohol intake
157
Symmetrical Asymmetrical
Movement/posture Resting
High frequency Slow frequency
Arms. legs, voice,

Hands. legs, chin
neck, face, tongue
FRIEDREICH'S ATAXIA
osmsJl/friedreiehs-o.-lo.xio.
'600-1200 trinucleotide repeats -
( PATHOLOGY & CAUSES ) Friedreich's ataxia
• Genetic disorder; causes progressive

central nervous system (CNS) damage, COMPLICATIONS
movement problems
Progressive loss of cells
• Predominantly affects CNS; also affects
• In CNS, heart, pancreas
heart, pancreas
• Limb, gait ataxia - wheelchair bound -
• ! frataxin ----. ! mitochondrial oxidative
bedridden
phosphorylation ----. cell damage, death
• Dysphagia, dysarthria ----. aspiration -
• ! frataxin ----. j free iron ----. j oxidative stress
gastric bacteria insult to respiratory
- cell damage, death
parenchyma
• Neuronal cell death affects posterior
• Hypertrophic cardiomyopathy (secondary
columns of spinal cord. distal corticospinal
to myocardial cell death)
tracts, spinocerebellar tracts. brain stem.
cerebellum n Fibrosis - arrhythmia, hypertrophic
cardiomyopathy - heart failure
• Gene silencing - no frataxin synthesized
- iron accumulates in cell. reacts with
O Most common cause of death in
affected individuals (age 40-50)
oxygen----. unstable oxygen radicals - cell
death • Diabetes mellitus
O Loss of beta cells of pancreas
CAUSES • 25% of affected individuals

• Trinucleotide repeat GAA expansion • Musculoskeletal abnormalities
(chromosome 9q 13) - ! production of O Muscle denervation - abnormal forces
mitochondrial inner membrane protein. about joints - abnormalities
frataxin • Kyphoscoliosis
O Autosomal recessive inheritance pattern O Severe e- ! total lung capacity -
O j repeats ----. j severity, ! age of onset restrictive lung disease
158
• Pes cavus OTHER DIAGNOSTICS
Similar restrictive lung disease in severe
O • Symptom progression, family history
cases • Neurological exam
• Hammer toes • Ataxia (gait, hand); ! vibratory
sensation, proprioception; I deep
tendon reflexes, nystagmus
( SIGNS & SYMPTOMS ) Electromyogram
• Ataxia • Absent/reduced sensory nerve action
° Falling/staggering while walking, wide- potentials
based gait • Normal/only slightly decreased motor nerve
O Gait ataxia most common (age 0-10); conduction velocities
most individuals progress to wheelchair • Abnormal auditory, visual, somatosensory-
dependence within 11-25 years evoked responses
• Loss of vibratory sense, proprioception
• Muscle weakness, chest pain,
dyspnea, heart palpitations, absence ( T_R_E~_~_M_EN_T__ )
of tendon reflexes in legs, involuntary
eye movements, action tremor, hand OTHER INTERVENTIONS
clumsiness, dysarthria, fatigue • Occupational, physical therapy
O Balance, ataxic progression
• Cardiology
( D_IA_GN_O_s,_s __ ) O Annual electrocardiogram,
echocardiogram
LAB RESULTS • Severe scoliosis
Genetic testing O Orthopedic referral
• Confirms diagnosis • Annual diabetes screening
• GAA repeats; examine first intron in frataxin • Genetic, psychological counseling services
gene
159
NEUROLEPTIC MALIGNANT
SYNDROME
osmsJl/ neuTolep-lie-me1ligne1n-l-s14ndTome
• Lithium/alcohol/psychoactive substance use
( PATHOLOGY & CAUSES ) • Previous episode of neuroleptic malignant
syndrome
• Life-threatening idiosyncratic reaction
• Acute injury (e.g. trauma. surgery, infection)
to antipsychotic drugs; muscle rigidity,
fever, altered mental status, autonomic • Psychiatric conditions (e.g. acute catatonia,
dysfunction severe agitation)
• Dopamine blockade theory • Lewy body dementia
, Central dopamine blockade --->
hypothalamus ---> hyperthermia, COMPLICATIONS
dysautonomia • Rhabdomyolysis, renal failure
, Nigrostriatal dopamine blcckade -e • Seizures
tremor, rigidity
, Due to hyperthermia, metabolic
• Peripheral muscle theory imbalances
, Direct toxic effect of neuroleptics ---> • Encephalopathy, stupor, coma
mitochondria of skeletal muscle --->
• Cardiac arrhythmias (e.g. torsades de
rigidity, fever
pointes, cardiac arrest)
• Sympathetic nervous system theory
• Disseminated intravascular coagulation
, ! dopamine inhibitors ---> j sympathetic
output
' i sudomotor, vasomotor activity ---> fever ( SIGNS & SYMPTOMS )
CAUSES Altered mental status
• Agitated delirium with confusion (initial
Reaction to medications symptom); coma
• First-generation neuroleptic (most
common) Muscular abnormalities
, Haloperidol. fluphenazine, • Generalized muscular rigidity ("lead-pipe

rigidity")
chlorpromazine
• Second-generation neuroleptic medication
O Associated dysphonia. dysarthria
, Clozapine, risperidone. olanzapine • Catatonic signs
• Antiemetic • Extrapyramidal symptoms

O Tremor, chorea, akinesia
, Metoclopramide, promethazine,
droperidol • Less common
• Withdrawal of L-Dopa/dopamine agonist O Dystonic movements (e.g. opisthotonos.
therapy (Parkinson disease) trismus. blepharospasm). mutism.
dysarthria, dysphagia
RISI( FACTORS Hyperthermia

• Increase in dose/change of neuroleptic •Temperatures> 38-40°C/100.4-104°F
medication
• Abrupt cessation/reduction of dopaminergic
medication
160
Autonomic dysfunction
• Tachycardia, labile/elevated blood pressure,
C..____ T_R_EA_~_M_EN_T
__ )
tachypnea, sialorrhea, profuse diaphoresis
(sweating), flushing, incontinence
MEDICATIONS
• Discontinue offending neuroleptic agent
• Dantrolene (skeletal muscle relaxant),
(..____ D_IA_GN_o_s,_s __ ) bromocriptine (dopamine agonist); both
(if severe) to reduce muscle rigidity,
LAB RESULTS hyperthermia
• Severe t creatine kinase (CK)
°Correlates with rigidity severity----> OTHER INTERVENTIONS
1-lOOk international units/L • Maintain cardiorespiratory stability
• Mild t lactate dehydrogenase, alkaline , Intubation, mechanical ventilation
phosphatase, liver transaminases • Temperature reduction
• Electrolyte imbalances , Cooling blankets, ice water
o ! Ca2+, ! Mg2-, ! Na+/t Na+, t K+, gastric lavage, ice packs in axilla;
metabolic acidosis acetaminophen/aspirin
• j white blood cell count (leukocytosis) • Correct fluid, electrolyte imbalance
10-40k , ! CK damage/accumulation; replete
• Myoglobinuria insensible losses from diaphoresis
• ! serum iron concentration , Benzodiazepines: ! uncontrollable
agitations
OTHER DIAGNOSTICS • Electroconvulsive therapy
• Clinical presentation , If not responsive to medical therapy in
O Altered mental status ----> hyperthermia, first week; if severe/lethal catatonia
rigidity--> autonomic dysfunction
NEUROlEPTICMALIGNANT SYNDROME
VS. SEROTONIN SYNDROME
HISTORY CLINIC.AL LAI RESULTS OISTINGiUISHINGi
MANIFESTATION FEATURES
NEUROlEPTIC. Tetrad: mental status

Severe rigidity,
MAllGNANT Neuroleptic use change. fever. rigidity, metabolic
hyperthermia
SYNDROME autonomic instability abnormalities
Mental status change, None consistent

Prodrome of NN/D:
SEROTONIN neuromuscular hyperreactivity with disease:
SSRI use shivering. myoclonus,
SYNDROME (tremor. myoclonus). f CPK. leukocytosis,
hyperreflexia, ataxia
autonomic instability iHCO,-
161
PARl(INSON'S DISEASE
osmsJl:/ po.Tkinsons-diseo.se
COMPLIC ATIONS
( PATHOLOGY & CAUSES ) • Freezing phenomenon
, Progressive hypokinesia, bradykinesia
• Degeneration of dopaminergic neurons in
----> (akinetic) pauses in movement;
substantia nigra ----> tremor, rigidity, akinesia,
common when walking; tend to occur at
postural instability
thresholds (e.g. door frames)
• Most common neurological disorder; onset
• Falls
after age 50
O Secondary to postural instability, poor
• Degeneration of neurons in substantia nigra
movement amplitude
----> dopamine depletion from basal ganglia
----> disruption of connection to thalamus, • Dystonia
motor cortex-» Parkinsonism , Abnormal tone across joints---->
• Exact mechanism unknown; build-up disfiguring, painful posturing; universal
of abnormal proteins into Lewy bodies flexion of joints ----> severely kyphotic
in neurons; accompanied by death of posturing----> poor ability to ambulate,
astrocytes, significant increase in microglia ventilate
of substantia nigra • Dementia
• Protein (e.g. alpha-synuclein) accumulation ° Common after prolonged, primarily
in neuron ----> abnormal intracellular transit motor disease (in contrast to Lewy body
----> neuronal damage, death ----> motor dementia); psychosis, hallucinations
symptoms (severe)
O Asymptomatic neuronal degeneration:
brainstem {locus coeruleus)
O Symptomatic neuronal degeneration: (__ s,_G_NS_&_S_Y_M_PT_O_M_
)
basal ganglia; dopaminergic substantia
nigra pars compacta neurons diseased, • Psychiatric
O Depression, anxiety, mood disturbances;
die ----> dennervate striatum ---->
dysfunctional basal ganglia ----> hypo/ impairment of cognitive function,
bradykinetic motor output dementia (advanced stages)
O Late degeneration: cerebral cortex; • Sleep disturbances
leads to cognitive impairment O Wild dreams
• Autonomic dysfunction
CAUSES O Orthostatic hypotension, constipation,
• Usually idiopathic increased sweating
• Mutation of PINK1. parkin, alpha synuclein • ! olfactory sense

genes ° Common first symptom; history of! I
• Toxicity in recreational drug MPPP changed sense of taste, smell prior to
(synthetic opioid); rare motor symptoms
• Micrographia
RISI( FACTORS
• Family history, previous head injuries.
pesticides exposure
• Protective factors
° Caffeine, nicotine
162
\ MNEMONIC: TRAPS MNEMONIC: SALAD
Parkinson's disease Common Parkinsonism
symptoms treatments
Tremor (resting tremor) Selegiline
Rigidity Anticholinergics:
Akinesia trihexyphenidyl, benzhexol,
Postural changes (stooped) orphenadrine
Stare (serpentine stare) L-Dopa + peripheral

decarboxylase inhibitor:
carbidopa, benserazide
Amantadine
PARICINSON'S DISEASE IMPAIRMENTS Dopamine postsynaptic
receptor agonists:
MOTOR NON-MOTOR bromocriptine, lisuride,
IMPAIRMENTS IMPAIRMENTS pergolide
- Tremor - Cognitive impairment
- Rigid muscles - Depression. anxiety
- Difficulty walking - Sleep difficulties Dopamine replacement
- Decreased balance - Mood disturbances
• Precursor to dopamine----. t dopamine
- Freezing of movement - Decreased motor
- Slowness. decreased learning ability svnthests=- t synaptic dopamine----. !
amplitude of movement motor symptoms
• Commonly formulated with carbidopa
(peripheral decarboxylase inhibitor)
° Carbidopa-mediated inhibition of liver,
( D_IA_GN_o_s,_s__ ) systemic carboxylation ----. levodopa
cross blood brain barrier (BBB) ----. l
dopamine formation
OTHER DIAGNOSTICS
• Adverse effects
• Clinical presentation
O On/off phenomena: return of symptoms
O Resting tremor, rigidity, bradykinesia
prior to next dose; due to half life of
O Dopaminergic medication response
levodopa (approx. 90 minutes)
• Postmortem autopsy O Dyskinesia, dystonia: abnormal,
O Loss of pigmented dopaminergic repetitive movement {dyskinesia),
neurons of substantia nigra pars abnormal sustained muscle contraction
compacta {dystonia); head, neck (e.g. tardive
O Lewy bodies (intracytoplasmic dyskinesia of tongue, cervical torticollis);
eosinophilic inclusions), neurites j incidence with j dosing, duration of
disease
O Neuroleptic malignant syndrome: when
( T_R_E~_~_M_EN_T__ ) discontinued abruptly/high, multiple
doses missed
MEDICATIONS
• Symptomatic treatment; see mnemonic Dopamine agonists
• l dopaminergic stimulation of postsynaptic
receptors ----. ! motor symptoms
• Adverse effects
O Dyskinesia
O Impulse control disorder: t risk-taking
behavior (e.g. pathologic gambling;
compulsive sexual behavior, shopping)
163
Monoamine oxidase B (MA0-8) inhibitors SURGERY
• ! MAO-B-related dopamine metabolism - • Deep brain stimulation (DBS)
j synaptic dopamine - I motor symptoms , Direct neural stimulation of basal
• Most effective for mild-moderate symptoms ganglia (either subthalamic nucleus
of globus pallidus interna) - j motor
Anticholinergic output of basal ganglia - ! motor
• Improves neurochemical imbalance in basal symptoms
ganglia , Severe/medication nonresponsive
• Most useful in young (< 70) individuals with disease
tremor as primary symptom; less useful for
rigidity, bradykinesia
OTHER INTERVENTIONS
• Anticholinergic side effects common
• Education, support
Amantadine , Physical, emotional aspect of
• Antiviral drug degenerative, debilitating disease
° Known NMDA receptor agonist; ! • Physical therapy
neurotransmitter imbalance i , Exercise - I incidence offal Is
• Most useful in mild disease
Catechol-0-methyltransferase (COMT)
inhibitors
• ! dopamine, levodopa metabolism - j
synaptic dopamine - ! motor symptoms
• Rarely used as monotherapy
RESTLESS LEG SYNDROME

osmsJl/Y-es-lless-legs-s14ndY-ome
TYPES
Primary RLS
• Uncontrollable urge to move legs, relieved • Idiopathic; runs in families; onset< 45 years
by movement old; progressive, worsens over time
• Affects legs, feet bilaterally; less commonly
affects arms Secondary RLS
• Associated with underlying medical
conditions, medications; onset> 45 years
CAUSES
• Unknown
• CNS
RISI( FACTORS
• Pregnancy, iron deficiency/anemia,
0 ! iron, dopamine
smoking, caffeine, Parkinson's disease,
• Peripheral nervous system family history, renal failure, obesity
O Abnormal A fibers, peripheral nerve • Peripheral neuropathy (due to diabetes,
microvasculature alcoholism, rheumatoid arthritis, etc.)
164
• Medications
O Antidepressants, antiemetics,
( T_R_E~_~_M_EN_T
)
antipsychotics, antihistamines, calcium
channel blockers
MEDICATIONS
• If other interventions not effective
biologically female • Dopamine agonists (e.g. pramipexole,
ropinirole)
• Alpha-2-delta calcium channel ligands (e.g.
COMPLICATIONS pregabalin, gabapentin)
• lnsornnla c-. daytime drowsiness • Benzodiazepine
• Individuals with intermittent symptoms
( SIGNS & SYMPTOMS ) • Iron replacement
• ! symptom severity when low (< 75ng/
• Strong urge to move legs while resting; ml) serum iron levels repleted
unpleasant sensations (e.g. tingling,
burning, crawling, itching, aching) OTHER INTERVENTIONS
• Relief by movement; worsening of • Lifestyle changes
symptoms in evening/night----> insomnia
• Avoid aggravating factors/situations, !
• Nighttime leg twitching while asleep caffeine intake
Aggravating factors • Mental alert activities
• Antihistamines • Distract individual in times of symptoms
° Commonly used for sleep assistance
• Psychiatric medications
O Selective serotonin reuptake inhibitors
(SSRls), serotonin norepinephrine
reuptake inhibitors (SNRls), tricyclic
antidepressants (TCAs)
( D_IA_GN_O_s,_s)
OTHER DIAGNOSTICS
Clinical Presentation
• Urge to move limbs with/without
unpleasant sensations
• Improvement with activity
• Worsening at rest/in evening
165
NOTES
• NOTES
• NEUROCUTANEOUS DISORDERS

( PATHOLOGY & CAUSES ) ( DIAGNOSIS )
• Various disorders, primarily affecting skin, DIAGNOSTIC IMAGING
nervous system
MRI, CT scan
° Characterized by inherited/de novo
tumor suppressor gene mutations - I • See individual disorders
tumor formation incidence
• Tumor suppressor gene mutation - LAB RESULTS
abnormal/absent protein - loss of control • Genome testing
over important cell cycle regulators;
cell growth, proliferation; intercellular
communication - tumor formation OTHER DIAGNOSTICS
• Eye examination
RISI( FACTORS
• Parents with germline mutation ( TREATMENT )
SURGERY
(_~SI_G_NS_&~SY_M_P_TO_M_s~) • See individual disorders
• Various neurologic signs (lesion site-

dependent) OTHER INTERVENTIONS
• Eye, visual problems • No current underlying mutation treatment
• Mental, cognitive problems • Surveillance
• Skin lesions • Symptom management
• Benign, malignant nervous/other organ-
system tumors
166
ATAXIA-TELANGIECTASIA
osmsJI:/ C1-l:C1xiC1--lelC1ngiee-l:C1siC1
• Thymus hypoplastic
( PATHOLOGY & CAUSES ) n Fewer lymphocytes, Hassall's corpuscle
absence
• Rare autosomal recessive disorder
O Involves defective DNA repair
° Characterized by progressive
COMPLICATIONS
neurological abnormalities, most • Dysphagia - aspiration
noticeably ataxia, oculocutaneous • Pulmonary disease (chronic infection,
telangiectasias (superficial, dilated blood restrictive interstitial lung disease)
vessels of skin), immune deficiency, • Malignancies
malignancy • Infection (due to T cell deficiency, inability
• Mutation in ataxia-telangiectasia mutated to produce some antibodies, etc.)
(ATM) gene on chromosome 11; believed
to be DNA surveillance (looks for damage
- stops cell cycle to repair it/activates ( s,_G_NS_&_SY_M_PT_O_M_s_)
apoptosis)
• Telangiectasias (blood vessel dilation in skin
Abnormal ATM protein
offace, neck, bulbar conjunctiva)
• Unable to phosphorylate
• Skin lesions (e.g. care au lait spots-flat,
O Tumor suppressor protein p53 - lightly-brown pigmented birthmarks)
cell-cycle slowing/apoptosis absence
• Immune deficiency in cellular, humoral
- DNA repairing absence - immunity
mutation accumulation - malignant
transformation - l cell susceptibility to Neurologic
ionizing radiation • Abnormal gait, stance
O Tumor suppressor BRCA1 - l breast • Ataxia (tremors, lack of voluntary
cancer susceptibility coordinated movement)
O elF-4E binding protein 1 controls • Dystonia (muscle contractions - repetitive
protein synthesis when insulin present movement/abnormal posture)
- probable cause of insulin resistance,
• Oculomotor apraxia (inability to coordinate
disturbed growth
head, eye movements)
• Loses ribonucleotide reductase control
• Nystagmus, acquired strabismus, reading
- abnormal mitochondrial DNA
problems
synthesis, repair - probable cause of
• Problems with speaking, chewing,
neurodegeneration, premature aging
swallowing can - aspiration
• - chromosomal translocation, lymphocyte
inversion - l tendency of leukemias, • Cognitive impairment
lymphomas Pulmonary disease
Histology • Respiratory muscles weakness
• Central nervous system (CNS) • Aspiration
O Brain atrophy, Purkinje cell loss in • Interstitial lung disease
cerebellum (contributes to ataxia)
• Peripheral nervous system (PNS)
O Malformed nuclei in Schwann cells
167
(..__ __ D_IA_GN_O_SI_S )
• Neurological symptom presence (e.g.
progressive cerebellar ataxia)
LAB RESULTS
• Genetic testing
O Mutation identification in both ATM
gene copies
O I alpha-fetoprotein in serum
o ! ATM protein
0 ! immunoglobulins in serum (usually Figure 84.1 An ocular telangiectasia in an
lgA, lgG) individual with ataxia telangiectasia.
° Cell culture exposed to radiation (e.g.
X-ray) - I cell, chromosomal breakage
(..____ T_R_E~_~_M_EN_T )
OTHER INTERVENTIONS
• Occupational. physical therapy (functional
deficits)
• Monitor, treat main mortality causes
, Infections, dysphagia, pulmonary
disease, malignancy
NEUROFIBROMATOSIS TYPE I (NFt)

osmsJl/neuTofibTome1-losis--l1Je-i
• Deletion of one NF1 gene - more severe
( PATHOLOGY & CAUSES ) phenotypes
• New mutation appearing in postzygotic
• Rare autosomal dominant disorder
stage - some cells have normal NF1
° Characterized by j tumor incidence genes. some have mutations - segmental
O AKA von Recklinghausen disease, NFI neurofibromatosis
• Mutation in neurofibromin 1 gene (NF1) • Both NFl genes mutated - complete NF1
on chromosome 17 - abnormal/absent protein production loss
neurofibromin 1 protein (usually acts as
tumor suppressor) - unable to control RAS
pathway (stays trapped in active form) -
COMPLICATIONS
loss of cell growth, division control • Cognitive/learning disability, seizure.
hypertension
TYPES
• Small mutations in one NF1 gene copy -
mild phenotypes
168
(__ SI_G_NS_&_S_Y_M_PT_O_M_s )
• ;:=: six care au fait macules
Freckling
• Similar to cafe au lait macules but smaller,
appearing later in groups with tendency for
inguinal, axillary region
Lisch nodules (NF1-specific)

• Lifted tan-colored iris hamartomas
Figure 84.2 Lisch nodules in the iris of
Neurofibromas
an individual with neurofibromatosis.
• Peripheral
Hamartomata of the iris constitute part of the
O Benign peripheral nerve sheath tumors; diagnostic criteria for neurofibromatosis.
consist of many cells (primarily Schwann
cells)
O Location: skin, along nerve, nerve root
next to spine ( D_IA_GN_o_s,_s __ )
• Plexiform (leading morbidity cause)
O Superficial. deep/mixed nerve
DIAGNOSTIC IMAGING
overgrowth MRI
° Can compress adjacent structures (e.g. • Bright spots (areas of I signals in T2
airways). invade surrounding tissue, imaging)
become malignant
• Nodular Neuroimaging
O Superficial/deep hard lesions • Megalencephaly (j brain volume)
O Usually not invading tissue but can
become malignant LAB RESULTS
• Genetic testing (diagnosis confirmation)
Optic pathway glioma (OPG)
• Proptosis, visual problems
OTHER DIAGNOSTICS
Malignant peripheral nerve sheath tumor
• Clinically
(MPNST)
, Neurology, genetics, ophthalmology
• Swelling in extremity; pain; numbness, evaluation
burning sensation; extremity movement
= Parent. sibling history. examination
difficulty
helpful
Neurologic manifestations • At least two following features needed for
• Speech, language delays; attention deficit diagnosis
0 ;:=: six cafe au fait macules
hyperactivity disorder (ADHD)
= ;:=: two neurofibromas
Bone abnormalities
= Freckling
• Long bone dysplasia (anterolateral bowing)
= Optic glioma
O Narrowed medullary canal, cortical
0 ;:=: two Lisch nodules
thickening. pathologic fractures
° Characteristic bony lesion
• Pseudoarthrosis
° First-degree relative diagnosed with
Fake joint forming at previous fracture
°
NFl
site
• Scoliosis; osteoporosis
• Short stature
169
treatrnent=-. volume shrinkage
MPNSTs I OPGs
• Chemotherapy
Neurologic abnormalities
• Stimulants
SURGERY
Mass effect tumors
• Surgical removal
Figure 84.3 Numerous cutaneous MPNSTs

neurofibromata on the skin of an individual • Surgical excision with radiation therapy
with type I neurofibromatosis.
PSYCHOTHERAPY
( T_R_E~_~_M_EN_T
__ )
• Speech, occupational therapy
MEDICATIONS
OTHER INTERVENTIONS
Mass effect tumors
• Orthopedic interventions
• Selumetinib
O MEK 1/2 inhibitor; orphan drug for NFl Neurologic abnormalities
NEUROF18ROMATOS1S TYPE 11 (NF~)

osms.tl/neul9ofi\>l9ome1-losis-t14pe-ii
TYPES
( PATHOLOGY & CAUSES ) • Phenotype is mutation type-dependent
, Nonsense, frameshift ----> severe
• Uncommon autosomal dominant disorder
phenotypes
°Characterized by j neural tumor
, Missense, inframe deletions v- mild
incidence (schwannomas, meningiomas)
phenotypes
• Mutations in neurofibromin 2 (NF2) gene on
chromosome 22----> abnormal NF2 protein
(i.e. merlin) COMPLICATIONS
° Cell membrane protein acts as tumor • Vestibular schwannoma
suppressor -e loss of contact inhibition • Meningiomas (intracranial, spinal)
(likely) ----> j tumor development risk • Neuropathies (facial, polyneuropathy)
• Usually appears in young adulthood • Gliomas
• Eye lesions (e.g. cataracts, retinal
hamartomas)
170
• Other non-neoplastic lesions (e.g.
meningioangiomatosis-benign
leptomeninges lesions with good
vascularization)
• Visual impairment
(...____ D_IA_GN_o_s,_s__ )
DIAGNOSTIC IMAGING
MRI
• Nervous system
= For individuals with first-grade relatives
diagnosed with NF2
LAB RESULTS
• Molecular testing for mutation
diagnosed with NF2
OTHER DIAGNOSTICS
• At least one of following needed
= Bilateral vestibular schwannomas < 70
years old
= Unilateral vestibular schwannoma < 70
years of age + first degree relative with
Figure 84.4 An MRI scan of the head in the NF2
axial plane demonstrating bilateral acoustic = Neurofibroma, meningioma, glioma,
Schwannomas in an individual with type II non-vestibular schwannoma, cataract
neurofibromatosis. or cerebral calcifications+ first degree
relative with NF2/unilateral vestibular
schwannoma without schwannomatosis
gene mutations
(__ s,_G_NS_&_S_Y_M_PT_O_M_s_) = Multiple meningiomas + unilateral
vestibular schwannoma/two of
• Skin lesions (cutaneous, subcutaneous neurofibroma, glioma, cerebral
tumors) calcification, cataract, non-vestibular
schwannoma
Neurologic disorders
= NF2 gene mutation from blood/detecting
• Vestibular schwannomas (may be bilateral)
same mutation in two different tumors
O Progressive hearing loss, balance
• Skin, eye examination
problems, tinnitus
• Meningiomas
diagnosed with NF2
O Extremity weakness, double vision,
incontinence, seizure
• Gliomas
O Headache, vomiting, visual loss
• Spinal tumors
O Muscle pain, weakness; paresthesias
171
(..____ T_R_E~_~_M_EN_T
)
MEDICATIONS
• Monoclonal antibodies against vascular
endothelial growth factor (VEGF) -
hearing improvement, tumor shrinkage
SURGERY
• Removal
O Vestibular schwannomas; meningioma
(surveillance until symptomatic)
OTHER INTERVENTIONS
• Stereotactic radiosurgery, radiotherapy
(surveillance until symptomatic) Figure 84.5 An MRI scan of the head in the
axial plane demonstrating bilateral acoustic
Schwannomas in an individual with type II
neurofibromatosis.
Common Less common
Present Absent
Yes No
Ncurofibromas Schwannornas
Present Absent
Low High
172
STURGE-WEBERSYNDROME
osmsJl/ s-luTge-We \>eT-s14ndTome
Seizures (epilepsy)
( PATHOLOGY & CAUSES ) • Affect young children
• Usually start as focal - become
• Uncommon congenital disorder affecting
generalized
blood vessels on face, brain, eyes
• GNAQ gene mutation - abnormal guanine Hemiparesis
nucleotide binding protein - loss of • Affects extremities contralateral to brain
some intracellular signal pathway control lesion
- capillary angiomatosis development
• ! motor function
- hypoxia, venous stasis, thrombosis
(probable tissue damage cause) Ophthalmologic problems
• Mutation occurrence • Visual defects when brain's occipital region
O Early embryogenesis stages - probably affected
affect more vascular cell precursors - • Choroid hemangiomas - I intraocular
Sturge-Weber syndrome (SWS) pressure
O Later embryogenesis stages - believed • Episcleral, conjunctiva! hemangiomas
to affect endothelial cell precursors
- nonsyndromic port wine stains Endocrine problems
(malformed facial capillaries) • Growth hormone deficiency
• Central hypothyroidism
COMPLICATIONS
• Intellectual disability
• Hydrocephalus (probably due to venous
(.____ D_IA_GN_O_s,_s
__ )
stasis, thrombosis)
DIAGNOSTIC IMAGING
• Glaucoma (t intraocular pressure)
MRI
( SIGNS & SYMPTOMS ) • Contrast enhancement

• Presence, position, range of malformed
capillaries, veins
Port wine stain
• Newborns CT scan
°Flat pink lesions • Calcifications
• Grows bulging out, turns to red wine color
as individual ages OTHER DIAGNOSTICS
• Dilated blood vessels injury-prone - • Characteristic neurologic, ophthalmic, skin
superficial bleeding - hypertrophy, manifestations
nodularity
• Usually appears on forehead, upper eyelids
Leptomeningeal vascular malformation

• Big malformed intracerebral veins, usually
drain in deep venous system
• Venous stasis - chronic ischemia -
atrophied brain parenchyma, calcific
deposits
173
(..__ __ T_R_E~_~_M_EN_T
)
MEDICATIONS
• Antithrombotic therapy
• Topical medications
O Managing intraocular pressure
• Anticonvulsants
O Manage seizure
SURGERY
• Epileptogenic tissue removal
O Manage seizure
• Hemispherectomy (disabling half of brain)
O Manage seizure
OTHER INTERVENTIONS Figure 84.6 A CT scan of the head in the

• Photothermolysis (laser produced heat) axial plane of an individual with Sturge-
O Skin lesions Weber syndrome. There is calcification and
volume loss of the cerebral cortex on the
right side.
TUBEROUS SCLEROSIS
osms.i"l/-1:u\>erous-selerosis
• Mutation range-dependent
( PATHOLOGY & CAUSES ) , One copy mutated ----. cortical,
subependymal tubers
• Autosomal dominant disorder
, Both copies mutated ----. subependymal
° Characterized by hamartoma, benign
giant-cell astrocytomas
neoplasm development involving many
organ systems
• l malignancy risk
• Mutation in one/both genes
O TSCl on chromosome 9----. abnormal/ COMPLICATIONS
absent hamartin • Seizure (leading morbidity cause)
O TSC2 on chromosome 16 (more • Autism spectrum disorders
commonly mutated) ----. abnormal/absent • Intellectual disability
tuberin • Pneumonia
• Abnormal ha martin, tuberin can not form/ • Heart, renal failure
form inactive complex----. control loss over
kinase mechanistic target of rapamycin
(mTOR)
O Anabolic metabolism, cell size regulator
----. giant-cell tumors
174
LAB RESULTS
( SIGNS & SYMPTOMS ) Genetic testing
Skin lesions • Mutation identification in TSC1/TSC2 genes
• Ash-leaf spots (hypomelanotic macules) of healthy tissue cells
• Angiofibromas on cheeks , Can establish diagnosis without clinical
• Ungual fibromas (small tumors growing manifestation
under nails) • Clinically uncertain diagnosis confirmation
• Shagreen patches (thick, pigmented, • Prenatal diagnosis
dimpled skin lesion usually on lower back)
• Characteristic brown plaques on infant OTHER DIAGNOSTICS
forehead
• Presents with at least two major symptoms
Brain lesions • Presents with one major, two/more minor
• Glioneuronal hamartomas, subependymal symptoms
nodules = "Confetti" skin lesions (small
O Seizure, intellectual disability hypomelanotic macules)
• Subependymal giant-cell tumors = ~ three dental enamel pits
= ~ two intraoral fibromas
O Hydrocephalus - headaches, vomiting,
visual problems, depression, appetite = Retinal achromic patch
loss = Multiple renal cysts
• White matter lesions = Nonrenal hamartomas
• Full parental evaluation once child
Cardiovascularlesions
diagnosed
• Cardiac rhabdomyoma (benign heart
• Skin, neurologic, ophthalmic examination
tumor)
• Vogt triad
O Blood flow obstruction, cardiac murmurs
= Seizure, facial angiofibroma, intellectual
Renal lesions (angiomyolipomas) disability
• Pain, irregular renal function
". '·.• .1.,~·.· . <~

Pulmonary lesions
• Diffuse interstitial fibrosis/
lymphangioleiomyomatosis (systemic
disease - cystic lung destruction)
O Dyspnea, pneumothorax
Ophthalmic lesions
;.,.
-.~?···.
• Retinal hamartomas (flat, translucent
- ,·
.
•.
.
.
It
: . .
.. ...~
•••
: .· -!
lesions): eyelid angiofibromas
-~
. '. . • 1
, . . ~ . -,
-
.
( D_IA_GN_O_s,_s ) Figure 84.7 Numerous facial angiofibromas

in an individual with tuberous sclerosis.
DIAGNOSTIC IMAGING
MRI
• With, without contrast enhancement
° Cortical glial hamartomas
O Subependymal nodules/giant-cell tumor
O White matter lesions
O Renal angiomyolipomas/cysts
175
Lungs
(..__ __ T_R_E~_~_M_EN_T ) • Lung transplantation
MEDICATIONS
PSYCHOTHERAPY
Seizure management, monitoring
• Infantile seizures: corticotropin (ACTH)/ Cognitive, behavioral problems
vigabatrin • Special needs educational programs
• Partial seizures: many drugs (such as • Occupational therapy
oxcarbazepine) • Social support
• Refractory epilepsy • Psychiatric therapy
O Everolimus (mTOR inhibitor)
Tumor management OTHER INTERVENTIONS

• Medical therapy (e.g. everolimus) Seizure management, monitoring
• Refractory epilepsy
SURGERY , Ketogenic diet
, Vagus nerve stimulation
• Refractory epilepsy Skin lesions
O Epilepsy surgery • Sun protection
• Laser therapy
Tumor management
• Dermabrasion (wearing away of skin)
• Surgical removal if possible
• Angiomyolipoma embolization Lungs
• Pleurodesis
O Adhesion of two pleurae---'>
pneumothorax prevention
VON HIPPEL-LINDAU DISEASE

osms.l"l/von-hippel-lindo.u
growth dysregulation ---'> highly vascular
( PATHOLOGY & CAUSES ) tumor formation
, Cilia centrosome, microtubules
dysregulation ---'> cyst formation in
°Characterized by formation of many pancreas, liver, kidneys
different benign, malignant tumors
, Dysregulation of extracellular rnatrix -«
(hemangioblastomas, renal cell
malignant behavior
carcinoma, pheochromocytoma)
• Affected people usually have one inherited
• Mutation affects von Hippel-Lindau (VHL)
mutated allele but development requires
tumor suppressor gene on chromosome 3
other allele mutation/deletion/inactivation
- abnormal VHL protein
O Lost ability to deactivate hypoxia
induced factor 1 alpha (HIF1A), 2 alpha TYPES
(HIF2A) - HIF1A starts continuously • Two types of VHL disease (based on
producing erythropoietin while HIF2A pheochromocytoma development risk)
produces VEGF---'> cellular metabolism,
176
Type 1
• !risk
(..__ __ D_IA_GN_O_s,_s
__ )
• Usually associated with large deletions, DIAGNOSTIC IMAGING
frameshift, nonsense mutations
CT scan
Type 2
• Tumor visualization
• i risk
• ELSTs
• Usually associated with missense
• Retrolabyrinthine calcifications
mutations
MRI
(__ s,_G_NS_&_S_Y_M_PT_O_M_s_) • ELSTs
Hemangioblastomas • Hyperintense Tl, heterogeneous T2
focal signals
• Usually affect cerebellum, spinal cord, retina
O Benign, well defined tumors
o Highly vascular LAB RESULTS
° Can pressure adjacent structures/bleed • Pheochromocytomas
• Serum testing: t normetanephrine to
Retinal capillary hemangioblastomas metanephrine ratio
• Visual loss • Genome testing
• Retinal detachment • Southern blotting
• Glaucoma = Genome sequencing
• Prenatal diagnosis
Renal cell carcinomas (RCC)
= Amniocentesis
• Haematuria
• Chorionic villus sampling
• Flank pain (between ribs, hips)
• Abdominal mass
OTHER DIAGNOSTICS
Pheochromocyto
mas • Retinal examination
• Headaches • ELSTs
• High blood pressure, j heart rate • Auditory tests
• Skin sensations • Genetic counseling
Pancreatic tumors
• Usually asymptomatic
O Epigastric pain ( T_R_E~_~_M_EN_T
)
O Diarrhea
MEDICATIONS
Endolymphatic sac tumors of middle ear
• Pheochromocytomas
(ELSTs)
Alpha-adrenergic
O blockade
• Hearing loss
• Tinnitus
• Vertigo
SURGERY
• CNS hemangioblastomas, pancreatic
tumors, ELSTs
O Removal (when symptomatic)
° Cochlear implants: individuals with
hearing loss
177
• RCC • Retinal capillary hemangioblastomas
O Partial nephrectomy O Laser photocoagulation
• Pheochromocytomas n Cryotherapy
o Removal • RCC
n Cryotherapy
OTHER INTERVENTIONS O Radiofrequency ablation

• CNS hemangioblastomas, pancreatic • Pheochromocytomas
tumors, ELSTs n Catecholamines production surveillance
O Stereotactic radiosurgery, radiation
therapy
178
NOTES

LAB RESULTS
( PATHOLOGY & CAUSES ) • Serologic test for specific antibodies
• Disorders impairing neuromuscular

transmission lead to muscle fatigability, OTHER DIAGNOSTICS
weakness
Electrophysiolog
ic study
• Repetitive nerve stimulation
CAUSES • Decremental response/improvement
• Autoantibody production
• Electromyogram
O Targeted against neuromuscular
• ! muscle action potential
transmission pathway proteins
• Myasthenia gravis (MG) Pulmonary function test (PFT)
• Lambert-Eaton myasthenic syndrome • Periodically
(LEMS) • Detect respiratory muscle involvement
• Transient acquired neonatal myasthenia in forced vital capacity (FVC) !
• Genetic mutation
O Affecting pathway components (e.g.,
congenital myasthenia) ( T_R_E~_~_M_EN_T
__ )
• Treat underlying cause (e.g. LEMS
COMPLICATIONS malignancy)
• Respiratory muscles involved ----. potentially
fatal respiratory failure
MEDICATIONS
( SIGNS & SYMPTOMS ) • Inhibit acetylcholine degradation
----. I acetylcholine concentration in
• Primary clinical manifestation neuromuscular junction (symptomatic
O Painless muscle weakness without therapy)
significant muscle atrophy • lmmunomodulating agents
O Ocular, extraocular, oropharyngeal, • ! autoantibody production
bulbar, neck, limb, respiratory muscles O Individuals with poor
acetylcholinesterase inhibitor response
• Corticosteroids/other
( D_IA_GN_o_s,_s __ ) immunosuppressive agents
• If above fails/emergency (e.g., myasthenic
DIAGNOSTIC IMAGING crisis)
CT scan O Plasmapheresis/intravenous
immunoglobulin (IVIG)
• Thymoma (MG)
• Small-cell lung carcinoma (LEMS)
179
LAMBERT-EATON MYASTHENIC
SYNDROME (LEMS)
osmsJl/lQm\,eT-l-eQ-lon-ln'4Qs-lhenlc
lymphoproliferative disorders (e.g.,

( PATHOLOGY & CAUSES ) Hodgkin's lymphoma)
• Autoimmune diseases
• Rare autoimmune disorder
, Hashimoto's thyroiditis, diabetes
O Autoantibodies inhibit presynaptic
mellitus type 1, vitiligo
calcium channels on motor neurons
- reduced acetylcholine release in
neuromuscular junction COMPLICATIONS
• Muscle weakness • Respiratory muscle involvement -
O Improves temporarily after repeated respiratory failure
muscle use (no significant muscle • Underlying malignancy - can lead to death
atrophy)
• Mostly affects somatic nervous system,
can also affect autonomic nervous system's ( SIGNS & SYMPTOMS )
parasympathetic part
• Middle-aged adults (most cases) • Progressive, symmetrical proximal muscle
weakness (e.g., shoulders, hips, thighs) -
difficulty climbing stairs/standing when
CAUSES seated
, Paraneoplastic LEMS: more rapidly
Type II hypersensitivityreaction
progressive course
• B cells produce antibodies that target, block
• Warming-up phenomenon
voltage-gated calcium channels located
presynaptically on motor neurons - only , Repeated muscle use - weakness
few unbound channels available to open, temporarily relieved
allow calcium in - ! calcium within neuron • Reflex strength !
(insufficient to trigger acetylcholine release) , Muscle activation - reflex recovery/
- ! acetylcholine release in neuromuscular improvement
junction - attached muscle fiber does not • Small minority
contract
, Ocular, oropharyngeal muscle
• Repeated stimulation by brain's electrical involvement
impulses - enough calcium might get
• Advanced stages
through remaining unbound calcium
O Possible respiratory muscles
channels - acetylcholine release - muscle
involvement - respiratory failure
contraction
(myasthenic crisis)
RISI( FACTORS O Dry mouth (most common),
• Malignancy constipation, blurry vision, erectile
O Strong small-cell lung cancer dysfunction, urinary problems, syncope
association; stimulus for antibody
production is same calcium channel
expression in neoplastic cells
O Other associated malignancies include
180
(..____ D_IA_GN_o_s,_s
__ ) (..____ T_R_E_AT_M_E_N_T
__ )
DIAGNOSTIC IMAGING MEDICATIONS
• Symptomatic therapy
CT scan
• Acetylcholinesterase inhibitors: minimal
• Chest effect
o Detect underlying small-cell lung cancer
• Aminopyridines: block potassium
• Abdomen, pelvis also recommended channels - prolonged nerve membrane
• Negative initial malignancy evaluation depolarization - l calcium entry - i
o Periodical screening recommended acetylcholine release in neuromuscular
junction
• If above methods fail
LAB RESULTS
• lmmunomodulating agents can
• Serological tests
be used (corticosteroids, other
o Detect antibodies against the voltage-
immunosuppressive agents)
gated calcium channels
OTHER INTERVENTIONS
OTHER DIAGNOSTICS
• Occasionally treated with IVIG/
• Electrophysiologic studies
plasmapheresis
o Repetitive nerve stimulation: j muscle
• More severe cases
action potential amplitude
o Electromyogram: j muscle action
potential amplitude after exercise
• PFT
o ! FVC - respiratory muscle
involvement
MYASTHENIA GRAVIS
osms.i"l/ m1Jo.s-lhenio.-gTo. vis
(MuSK) - ! in acetylcholine receptor
( PATHOLOGY & CAUSES ) function
• Acetylcholine cannot bind - normal action
• Autoimmune disorder; significant skeletal
potentials cannot be generated (adjacent
muscle weakness
muscle
o Decreased acetylcholine receptor
• Complement activated - inflammatory
function - worsens with muscle use
response initiation - postsynaptic
o Most common neuromuscular junction membrane damage - acetylcholine
disorder receptor destruction
• Type II hypersensitivity reaction • Bimodal onset age
o B cells produce antibodies against , 20-30 years old (biologically-female
postsynaptic nicotinic acetylcholine predominance)
receptors of neuromuscular junction/ , 60-70 years old (biologically-male
receptor-associated proteins
predominance)
o Autoantibodies targeted against
• Associated with thymic abnormality;
muscle-specific receptor tyrosine kinase
thymus considered antigen source
181
promoting autoantibody production (most dysphagia), palatal (nasal tone,
cases) prolonged speech ----> hypophonia)
• Neonatal myasthenia gravis • Facial muscle
O Transient myasthenia form (newborn , Facial weakness, facial expression loss
from individual with myasthenia gravis) • Neck muscle
O Maternal antibodies ----> transplacental , Cannot keep head up ("drooped head
passage----> neuromuscular junction syndrome")
function interference • Limb muscle
• Rare non-immune mediated forms O Proximal, asymmetric muscle weakness
O E.g. congenital myasthenia gravis • Respiratory muscle
O Mutations affecting neuromuscular , Respiratory failure (myasthenic crisis)
transmission
COMPLICATIONS ( D_IA_GN_o_s,_s__ )
• Myasthenic crisis
O Decreased respiratory muscle function
DIAGNOSTIC IMAGING
----> life-threatening respiratory failure CT scan
(requires mechanical ventilation)
• Chest scan to detect associated thymic
O Occurs spontaneously/precipitated abnormalities
(e.g. surgery, infection, medication,
, Abnormal thymus (most cases)
immunosuppressive-agent withdrawal)
, Thymoma
( s,_G_NS_&_SY_M_PT_O_M_s_) LAB RESULTS

• Serologic test
• Fluctuating muscle weakness , Acetylcholine receptor antibodies
OExacerbated by repetitive muscle use (AChR-Abs)/muscle-specific receptor
throughout day/after exertion/repetitive tyrosine kinase antibodies (MuSK-Abs)
movement , Most specific tests
• Improves with rest , Seronegative for AChR-Abs, MuSK-Abs
• Progression
O Symptoms continuously present,
fluctuate from mild-severe
OTHER DIAGNOSTICS
• Sensation, reflexes preserved
, Repetitive nerve stimulation studies:
Clinical MG forms progressive decline in muscle action
• Ocular myasthenia potential amplitude (decremental
O Limited (eyelid, extraocular muscle); response)
individuals (50%) with ocular , Single-fiber electromyography:
myasthenia will----> generalized increased jitter
myasthenia (< two years) • Tensilon test
• Generalized myasthenia = Edrophonium: acetylcholinesterase
O Ocular, bulbar, facial, limb, respiratory inhibitor with rapid onset, short acting
muscle duration
• Ocular muscles , Prolongs acetylcholine presence in
O Eyelid (ptosis), extraocular (binocular neuromuscular junction ----> marked
improvement
diplopia)
, Easy to perform/limited utility;
• Bulbar muscle
high false-positive rate, possible
O Jaw closure (prolonged chewing---->
complications from muscarinic effects
weakness), oropharyngeal (dysarthria,
182
(especially older adults, e.g. bradycardia, SURGERY
bronchospasm) • Thymectomy, especially for thymoma;
• PFTs myasthenia often improves/disappears
O Periodical FVC monitoring; FVC ! • Rapidly worsening myasthenia/myasthenic
reveals respiratory muscle involvement crisis
• Ice pack test = Intubation
O Ice pack application (2-5 minutes) - = Plasmapheresis/intravenous
MG-affected muscles immunoglobulin (IVIG)
O Neuromuscular transmission = Long-acting immunotherapy (e.g.,
improvement in low temperature corticosteroids, azathioprine)
MNEMONIC
Edrophonium vs.
pyridostigmine
eDrophonium for Diagnosis
pyRIDostigmine is to get RID
of symptoms
Figure 85.1 A biologically-female individual

with myasthenia gravis demonstrating ptosis
of the right eye before treatment (above) and
after treatment (below) with edrophonium.
( T_R_E~_;i-_M_EN_T
)
• No curative method
MEDICATIONS
• Avoid MG-exacerbating drugs (e.g.
aminoglycosides, tetracyclines, beta-
blockers, quinidine)
O Symptomatic therapy
• lmmunomodulating agents! autoantibody
production
O Individuals with poor
• Corticosteroids, other immunosuppressive
agents
183
NOTES
NOTES
•• NEUROPATHIES
OTHER INTERVENTIONS
( PATHOLOGY & CAUSES ) • Physiotherapy
' Helps restore muscle function (if nerves
• Peripheral nervous system (PNS) disorders
are not severed=. may help motor
caused by neuronal damage
function with partial lesions)
• Splinting (e.g. wrist, ankle)
(_~SI_G_NS_&~SY_M_P_TO_M_S~)
MNEMONIC: DANG
• Impairment/loss of motor/somatosensory
function; "pins and needles" sensation
' ' THERAPIST
(paresthesia) Peripheral neuropathies
common differential
diagnosis
(-~~D_IA_G_N_O_SI_S~~) Diabetes
Amyloid
• History: characteristic symptoms, Nutritional (e.g. 812 deficiency)
sometimes preceding injury
Guillain-Barre
DIAGNOSTIC IMAGING Toxic (e.g. amiodarone)

• Imaging for some conditions Hereditary (Charcot-Marie-
Tooth)
OTHER DIAGNOSTICS Endocrine
• Electromyography (EMG), nerve conduction Recurring (10% of Guillain-
studies (NCS) Barre)
Alcohol
Pb (lead)
(-~~TR_E_A_~M_E_N_T~~) Idiopathic
MEDICATIONS Sarcoid
Thyroid
• For neuropathic pain
SURGERY
• Surgery to relieve nerve compression
184
CARPAL TUNNEL SYNDROME
osms.i'l/ eo.Tpo.1--lunnel-stJndTome
( PATHOLOGY & CAUSES ) (__ SI_G_NS_&_SY_M_PT_O_M_s

)
• Nerve entrapment disorder - compression • Usually unilateral symptoms
of wrist's median nerve • Individual may awake with numbness,
O Median nerve passes through carpal tingling (after day of use - worsens at
tunnel night)
• Carpal tunnel • Initially dull ache, discomfort; paresthesia,
O Floor: carpal arch sharp pain extending to forearm
O Roof: flexor retinaculum (transverse • Pain, numbness, tingling in thumb, index
carpal ligament) finger, middle finger, thumb side of ring
° Contains nine flexors, median nerve finger on palmar side of hand
• Repetitive stress injury in susceptible • Clumsiness, dropping small objects

people - inflammation - edema - fluid • No sensation loss in palm's central region
in narrow space compresses structures - O Pal mar branch of median nerve
nerve injury, impaired neuronal transport/ innervates it, branches off before going
vessel compression, nerve ischemia through carpal tunnel
CAUSES ( D_IA_GN_O_s,_s)
• Tendonitis, edema, repetitive stress injury
(typing) OTHER DIAGNOSTICS
RISI( FACTORS EMG

• Identifies neuropathic changes (sharp
• Obesity, pregnancy, other underlying
waves, j insertional activity)
conditions (rheumatoid arthritis), trauma,
genetic predisposition, occupation NCS
• ! response amplitude
COMPLICATIONS
Physical exam
• Thenar muscle atrophy
• Findings that support diagnosis
O Phalen maneuver: pressing of upper
MNEMONIC: TRAMP
' Carpal tunnel syndrome
hands together while flexing wrists
induces pain
common causes O Tine/'s sign: tapping on wrist over
Trauma (occupational) median nerve elicits pain
Rheumatoid arthritis O Durkan's test: pressing of median nerve
for 30 seconds worsens symptoms
Acromegaly
O Thenar eminence atrophy
Myxoedema
Pregnancy
185
MNEMONIC: WRIST
(..__ __ T_R_EA_~_M_EN_T
) Carpal tunnel syndrome
treatment
MEDICATIONS Wear splints at night
• Corticosteroid injections - ! inflammation
Rest
Inject steroid
SURGERY Surgical decompression
• If symptoms persist, cut transverse Take diuretics
ligament to relieve pressure
OTHER INTERVENTIONS
• Behavior modification (e.g. adjusting typing
position, weight loss)
• Wrist supports, splints
O Helps relieve wrist straln.j symptom
severity
Figure 86.1 Relative wasting of the right

thenar eminence in a case of carpal tunnel
syndrome.
ERB-DUCHENNEPALSY
osmsJl/ el'"\>-duehenne-po.ls11
• Upper brachia I plexus stretching - nerve

( PATHOLOGY & CAUSES ) damage
• Type of neonatal brachia! plexus palsy

° Caused by upper part of brachia! plexus
TYPES
injury • Brachia! plexus injuries
O AKA Erb's palsy , Neuropraxia (most common, nerve
stretched but not torn)
O Brachial plexus: group of nerves provide
movement, feeling to shoulder, arm, , Avulsion (most severe, roots torn from
hand, fingers; roots included in plexus spinal cord)
are C5-Tl forming superior, middle, , Rupture (nerve torn)
inferior trunks which form lateral, , Neuroma (nerve torn - healed, scar
posterior, medial cords puts pressure on injured nerve)
• Nerves affected
, Axillary RISI( FACTORS
O Musculocutaneous (biceps brachii, • Shoulder dystocia, macrosomia,
brachioradialis) malpresentation, maternal obesity,
O Suprascapular cephalopelvic disproportion, prolonged/
186
difficult labor, precipitous delivery
( D_IA_GN_O_s,_s
__ )
COMPLICATIONS DIAGNOSTIC IMAGING
• Affected arm grows shorter than other
X-ray
• Limited range of motion
• Rule-out fracture
• Muscle weakness
Ultrasound
• May show shoulder dislocation
(...___s,_G_NS_&_SY_M_PT_O_M_s_)
• "Waiter's tip" OTHER DIAGNOSTICS
O Hanging arm rotated medially, extended • Neurological exam
forearm, fixed wrist , Difficult due to limited child movement
• Affected arm may be held against body; , Involves evaluation of arm range of
flaccid, flexed at elbow movement, motility
• Lateral part of forearm sensation loss,
circulatory disturbances, paralysis Electromyoneu
rography (EMNG)
• Asymmetric Moro reflex • Shows damage extent
O Infant spreads only one arm (instead of
two) when it feels like it's falling
(.____ T_R_EA_~_M_EN_T
__ )
SURGERY
• Nerve repair/reconstruction
------ OTHER INTERVENTIONS

O Promotes muscle strengthening, normal
function
Figure 86.2 An illustration of the "waiter's

tip" position.
187
l(LUMPl(E PARALYSIS
osmsJl/lclumplce-pC1TC1l1Jsis

• Type of brachia! plexus palsy affecting
lower brachia! plexus nerve roots C8-Tl
• Abducted arm during childbirth - arm
traction, pulling - nerve stretching in
inferior brachia! plexus area - brachia!
plexus damage
CAUSES
• Obstetric injury in adulthood
= Caused by grabbing things when falling
from height Figure 86.3 An illustration of the claw hand
position.
RISI( FACTORS
• Birth injury
• Macrosomia, cephalopelvic (....___ D_IA_GN_O_SI_S __ )
disproportion, shoulder dystocia,
prolonged/difficult labor. precipitous OTHER DIAGNOSTICS
delivery, abnormal presentations • Clinical diagnosis through neurological
• Adult trauma exam
= Car crashes, falls, contact sports , Testing mobility, sensation, Homer's
syndrome symptoms
COMPLIC ATIONS EMG/NCS
• Severe pain, arm immobility • Confirms lesion location, assesses severity
(..___s,_G_Ns_&_sv_M_P_TO_M_s_)
C....___ T_R_EA_:T_M_EN_T__ )
• Claw hand OTHER INTERVENTIONS
O Intrinsic hand muscle atrophy - • Physiotherapy, electrical nerve stimulation,
flexion of interphalangeal, extension of occupational therapy
metacarpophalangeal joints
• Repositioning, splinting (extreme damage
• Sensation loss in appropriate dermatome cases)
(medial side of arm), upper-arm weakness
Homer's syndrome
• Ptosis (drooping eyelid)
• Enophthalmos (deep-set eye)
• Miosis (constricted pupil)
• ! sweating on one side of face
188
SCIATICA
osms.i"l/ seio.-lieo.
( PATHOLOGY & CAUSES ) (__ SI_G_NS_&_SY_M_PT_O_M_S_)

• Type of neuralgia following sciatic nerve • Sudden shooting pain onset radiating
along its distribution path from lumbar spine - down leg - areas
• Lumbosacral radiculopathy (spinal nerve innervated by sciatic nerve (side, back)
root disorder) - radicular (radiating, O Mostly unilateral
shooting) pain • Pain may involve lower back, hip, foot
• Most commonly caused by spinal disc • Numbness, muscle weakness, burning
disease - narrowing of neural fora men/ sensation
intraspinal space - disc profusion outside
spinal column border - lumbar/sacral
nerve root compression - nerve irritation ( D_IA_GN_O_s,_s
__ )
• Spinal disc herniation (most common) X-ray, MRI
• Spinal stenosis (spinal canal narrowing) • Confirms disc herniation, stenosis, tumors
• Piriformis syndrome as etiology; determines management
ORare variation of sciatic nerve passing
through piriformis muscle - symptoms OTHER DIAGNOSTICS
• Pregnancy
• Clinically diagnosed
O Due to ligament loosening, shifting of O Straight leg raise test: passive straight
center of gravity pressure on nerve
leg raising between 30-70° while lying
• Nerve tumors (schwannoma), trauma down, produces Lasegue's sign (positive
• Younger individuals if pain present); not very specific
o Infection ° Crossed straight leg raising test: has
higher specificity, not very sensitive
RISI( FACTORS
• Preexisting spinal disorders
( TREATMENT )
• Age: l risk ~-------------~
• Biologically-male individuals MEDICATIONS
• Pain management (nonsteroidal anti-
COMPLICATIONS inflammatory drugs (NSAIDs), opioids)
• Nerve damage, muscle atrophy, immobility,
permanent sensation loss SURGERY
• Spinal disc repair (severe symptoms)
OTHER INTERVENTIONS
• Recommend normal activity
189
THORACIC, OUTLET SYNDROME
osms.i-l/ -lhoTncic-ou-lle-l-s1JndTome
RISI( FACTORS
( PATHOLOGY & CAUSES ) • Coagulation disorders, pregnancy, tumors,
trauma
• Compression of neurovascular bundle in
• Repetitive movement sports (swimming,
space between clavicle, first rib; traverses
handball)
thoracic outlet
° Can result from combination of
developmental abnormalities, injuries, COMPLICATIONS
physical activities that predispose • Stroke (arising from retrograde thrombi);
neurovascular compression deep venous thrombosis; arterial
thromboembolism; atrophy; neural damage,
paralysis; limb ischemia
TYPES
Structures involved
• Neurogenic ( SIGNS & SYMPTOMS )
O Brachia! plexus compressed
• Differ according to structure involved,
O Most common
unilateral presentation more common
• Venous • Neurogenic
O Subclavian vein
, Pain, numbness, paresthesia (tingling),
• Arterial weakness when raising arm, muscle
O Subclavian artery atrophy (thumb muscles)
• Venous
Obstruction areas
, Swollen, painful, cyanotic (blue) arm;
• Anterior scalene
spontaneous edema, may cause
O Inflammation/structural anomaly paresthesia
(multiple attachments) ----> scalene
• Arterial
muscle presses down onto structures,
, Cold, painful, pale arm; ! systolic
brachia! plexus compressed
blood pressure in affected arm,
O Most common
diminished distal pulses, aneurysmal
• Cervical rib change in artery after compression
°Congenital abnormality of additional rib, may----> thrill over subclavian artery;
subclavian vein compressed thromboembolism ----> worsening
O More common in biologically-female symptoms, ischemia
individuals
• Costoclavicular
O All structures may be involved ( D_IA_GN_O_SI_S
__ )
O Second most common
DIAGNOSTIC IMAGING
CAUSES Upper-extremity ultrasound, angiography
• Repetitive rnotion c- chronic inflammation • Shows blood clot formation in vessels;
distinguishes between arterial, venous
• Congenital
etiology
°Cervical rib, supernumerary muscle
insertions
• Neck hyperextensions
190
Chest X-ray
• Identifies bone abnormalities
( T_R_EA_:T_M_EN_T
)
CT scan MEDICATIONS
• Identifies compression areas in greater • Local corticosteroid, anesthetic injections
detail (symptom relief)
• Thrombolysis (in vascular clot cases)
MRI
• Identifies brachia! plexus compression,
contrast displays vessel occlusion level
SURGERY
• Decompression techniques
OTHER DIAGNOSTICS
OTHER INTERVENTIONS
Physical exam • Physical therapy
• Examine limbs for signs of neural, venous/ • Stretching, exercise
arterial insufficiency
• Blood pressure difference between arms
indicates arterial involvement
• Adson test: raising arms above head
induces further compression ---'> distal pulse
diminishment
EMNG
• Confirms neurological dysfunction
ULNAR CLAW
osmsJl/ ullno.'9-elo.w
Cause: usually trauma/repetitive
( PATHOLOGY & CAUSES ) °
movement
• High
• Two medial fingers (fourth. fifth) become
°Cause: regularly leaning against elbows
flexed at interphalangeal level. extended at
metacarpophalangeal level
O Due to ulnar nerve damage, hand CAUSES
resembles "claw" • Prolonged pressure on Guyon's canal
• Prolonged ulnar nerve pathway pressure (where ulnar nerve passes)
---'> nerve injury---'> hand muscle wasting • Trauma
(except thenar. two lateral lumbricals);
flexor carpi ulnaris, flexor digitorum
profundus ---'>fourth.fifth finger flexion
RISI( FACTORS
at interphalangeal joint. extension at • Biologically-male individuals: f BMI
metacarpophalangeal joint • Biologically-female individuals:! BMI
• Cubitus valgus (forearm at pathological
Injury level angle)
• Low • Cycling
O Wrist. damage usually more severe • Leaning against desk
O Lesion site of nerve within wrist area
doesn't influence symptoms
191
• Tool use requiring downward pressure
(musical instruments) (..__ __ D_IA_GN_O_s,_s
__ )
DIAGNOSTIC IMAGING
COMPLICATIONS
• Nerve palsy Ultrasound
• Identifies local inflammation in Guyon's
canal (where ulnar nerve passes)
MRI
• Range in severity from mild intermittent • Identifies nerve thickening
paresthesia to complete sensation loss,
atrophy OTHER DIAGNOSTICS
• Flexion at interphalangeal joints, extension
at metacarpophalangeal Clinical exam
• Weakness, dexterity loss • Identify injury level
, Elbow has different muscles involved
(flexor carpi ulnaris, flexor digitorum
profundus)
, Froment's sign: card gripped using
interphalangeal joints (abductor pollicis
weak)
, Finger abduction, pressing hands
together causes one side to collapse
EMNG
• Identifies neural damage level in fingers
( T_R_EA_:l"_M_EN_T
__ )
SURGERY
• Severe injury
, Nerve decompression at level of
Guyon's canal
OTHER INTERVENTIONS
• Lighter injury
, Physical therapy, occupational therapy
• Splints, avoiding exacerbation
Figure 86.4 A left hand demonstrating an

ulnar claw.
192
WINGED SCAPULA
osmsJl/ winged-seo.pulo.
( PATHOLOGY & CAUSES ) (.____ D_IA_GN_O_s,_s

)
• Abnormal scapula protrusion from back of DIAGNOSTIC IMAGING
chest wall, usually unilateral
X-ray
O AKA scapula alata
• Confirms absence of fractures, structural
• Caused by muscle weakness
irregularities
O Serratus anterior: damage either to
brachia! plexus, long thoracic nerve
(most common) OTHER DIAGNOSTICS
O Trapezius: damage to accessory nerve • Scapular asymmetry, winging
O Rhomboid: damage to dorsal scapular
nerve
• Nerve damage, irritation/muscular
(.____ T_R_EA_:l"_M_EN_T
)
dystrophy - muscle weakness - scapula
elevation from thoracic wall - scapula
SURGERY
winging • Nerve transfer, scapular fixation
RISI( FACTORS OTHER INTERVENTIONS

• Neck lymphadenectomy • May resolve spontaneously
• Neuromuscular disorder • Massage therapy
• Idiopathic = Muscle relaxation
• Traumatic • Physical therapy

O Neck injury, repetitive movement, = Improves shoulder weakness
backpack straps, sleeping in bad
position, surgery
• Non-traumatic
O Viral neuritis (influenza), allergy,
toxic; neuromuscular disorders
(facioscapulohumeral muscular
dystrophy)
COMPLICATIONS
• Compensatory back muscle imbalance
)
• Fatigue
• Neck, shoulder pain
• Scapular winging, shoulder asymmetry
• Muscle weakness, difficulty lifting objects,
Figure 86.5 Winged scapula in an individual
difficulty raising arm above head
with a long thoracic nerve palsy.
193
NOTES
• NOTES
• PNS DEMYELINATING DISORDERS

LAB RESULTS
( PATHOLOGY & CAUSES ) • Guillain-Barre
, Albuminocytologic dissociation in
• Progressive peripheral nervous system
cerebrospinal fluid (CSF)
(PNS) disorders; destruction of myelin,
disruption of motor, sensory function
OTHER DIAGNOSTICS
TYPES • Electromyography (EMG), nerve conduction
studies (NCS)
Charcot-Marie-Tooth disease , I/blocked nerve conduction velocity
• Genetic mutations ----> defective myelin • History, physical examination
sheath, impaired neuronal mitochondrial
function
Guillain-Barre syndrome
( T_R_E~_~_M_EN_T__ )
• Acute triggering event (e.g. infection) ----> MEDICATIONS
aberrant autoimmune response ----> myelin
• Guillain-Barre
sheath destruction
, Intravenous immunoglobulin (IVIG)
COMPLICATIONS
SURGERY
Charcot-Marie-Tooth disease • Charcot-Marie-Tooth
• Muscle atrophy, impaired ambulation, foot , Correction of severe skeletal
irregularities irregularities
• Respiratory failure, cardiac arrhythmias,
OTHER INTERVENTIONS
quadriplegia • Charcot-Marie-Tooth
, Genetic testing, orthotics, physical/
occupational therapy
( s,_G_NS_&_SY_M_PT_O_M_s_) • Guillain-Barre
O Plasmapheresis; supportive care (e.g.
• !/absent deep tendon reflexes, paresthesia, respiratory/hemodynamic support)
muscle weakness, ! touch sensation • Pain management
O Acetaminophen, nonsteroidal anti-
inflammatory drugs (NSAIDs),
( D_IA_GN_O_s,_s __ ) gabapentin, carbamazepine
DIAGNOSTIC IMAGING
Gadolinium-enhanced MRI
• Guillain-Barre
O lntrathecal spinal nerve root thickening
194
CHARCOT -MARIE- TOOTH
DISEASE
osms.i"l/Cho.Teo-l-Mo.Tie-Too-lh

)
• Group of hereditary, progressive • Onset in first to third decade of life,
neurological disorders; disruption of PNS depending on type
processes, impaired sensory/motor function • Progressive distal muscle weakness;
• Genetic mutations ----> defective structure, atrophy of hands, feet
function of proteins in myelin sheath/ • Distal sensory loss, paresthesias, loss of
neuron's axon proprioception
• Classification: Types I-VII; Type X (X-linked) • ! deep tendon reflexes, areflexia
O Subtypes based on associated genes • Foot irregularities
and phenotypes ° Foot drop, high arches (pes cavus),
hammer toes, flail foot, cavovarus foot
TYPES • Unsteady gait, toe-walking
Charcot-Marie-Tooth I (CMTl)
• Demyelinating form
° Caused by mutations in PMP22, MPZ
genes (encode for myelin sheath
proteins) ----> ! nerve conduction velocity
O Autosomal dominant/sporadic
inheritance
CMT2
• Axonal form
°Caused by mutations in MFN2 gene
(encodes for mitofusin-2 protein in
neuronal mitochondria) ----> neuronal
death
O Autosomal dominant/recessive
inheritance
RISI( FACTORS Figure 87.1 An MRI scan of the foot of an

• Inheritance of defective gene(s) individual with Charcot-Marie-Tooth disease.
There is wasting of the plantar muscles and
COMPLICATIONS prominent pes cavus as well as a hammer
irregularity of the great toe.
• Muscle atrophy, loss of ambulation;
deafness, intellectual disability, optic
neuropathy, feeding difficulties, hip
dysplasia
195
OTHER INTERVENTIONS
(..__ __ D_IA_GN_O_SI_S ) • Physical/occupational therapy
, Strengthening, range of motion, balance,
OTHER DIAGNOSTICS
maintenance of mobility, activities of
• NCS, EMG
daily living
0 I nerve conduction velocity • Orthotics
• History, physical examination (e.g. age of
onset)
• Genetic testing
( T_R_E~_~_M_EN_T
)
MEDICATIONS
• Pain management
O Acetaminophen, NSAIDs, gabapentin,
carbamazepine
SURGERY
• Correction of severe skeletal irregularities
Figure 87.2 A section of a peripheral nerve
from an individual with Charcot-Marie-Tooth
disease.
*'
GUILLAIN-BARRE SYNDROME
osmsJl/ guille1in-be1TTe-s14ndTome
Variants
( PATHOLOGY & CAUSES ) • Acute inflammatory demyelinating
polyradiculoneuropathy (AIDP)
• Acute, progressive demyelinating PNS
• Miller-Fisher syndrome
disease; sensory, motor, cognitive deficits
O Affects cranial nerves (CN) Ill, IV, VI
• AKA acute inflammatory demyelinating
polyneu ropathy • Acute motor axonal neuropathy (AMAN)
• Abnormal autoimmune response • Acute sensorimotor axonal neuropathy
(AM SAN)
O
Myelin autoantigen picked up by
antigen-presenting cells (e.g. dendritic)
- antigen presented to helper T-cells CAUSES
- production of cytokines - activation • Molecular mimicry between microbe, nerve
of B-cells and macrophages - B-cells antigens
make antibodies. mark autoantigens; , Most commonly associated with
macrophages use antibody markers
Campylobacter jejuni. Mycoplasma
to attack myelin sheath on peripheral
pneumoniae, cytomegalovirus. Epstein-
neurons - I/blocked nerve conduction
Barr. influenza A. Zika, HIV
velocity; axonal degeneration
196
RISI( FACTORS
• Acute infection
( D_IA_GN_O_s,_s
__ )
• i age DIAGNOSTIC IMAGING
biologically male Gadolinium-enhanced MRI (spine)
• Tl-weighted images
COMPLICATIONS • Thickening of intrathecal spinal nerve
roots
• Acute
O lleus, urinary retention, cardiac
arrhythmias, pneumonia, respiratory LAB RESULTS
failure, quadriplegia • CSF
• Long-term • Albuminocytologic dissociation (high
° Chronic fatigue, chronic pain, relapses levels of protein without increase in cell
counts)
• Serum immunoglobulin G (lgG) antibodies
(__ SI_G_NS_&_S_Y_M_PT_O_M_s_) to ganglioside Qlb (GQlb)
• Miller-Fisher
• Variable presentation, depending on
affected nerve
• Bilateral, flaccid, ascending weakness of
OTHER DIAGNOSTICS
limbs, peaking s four weeks • EMG, NCS
• !deep tendon reflexes, areflexia, touch • !/blocked nerve conduction velocity
sensation • History, physical examination
• Paresthesia
• Diaphragmatic weakness - breathing
difficulties (e.g. hypoventilation, requires ( T_R_E~_~_M_EN_T
__ )
mechanical ventilation)
MEDICATIONS
• Autonomic involvement
• IVIG
O Hypertension/hypotension/postural
hypotension, bradycardia • Gabapentin/carbamazepine
O Pain management
• CN involvement
O Blurred vision, dysarthria, abnormal
pupillary response to light OTHER INTERVENTIONS
• Plasmapheresis
• Respiratory/hemodynamic support
197
NOTES
NOTES
• • SPINAL CORD INJ'"URY
( PATHOLOGY & CAUSES ) ( D_IA_GN_O_s,_s )
• Damage/inflammation of spinal cord ---'> loss DIAGNOSTIC IMAGING
of function, sensation
MRI
• Secondary compression of spinal cord
RISI( FACTORS
• Traumatic spine injury, tumours,
inflammatory disease ( T_R_E~_~_M_EN_T )
SURGERY
(_~S_IG_NS_&~SY_M_P_TO_M_s__ ) • Decompression surgery
• Brown-Sequard syndrome (BSS)

° Contra lateral loss of pain, temperature; OTHER INTERVENTIONS
ipsilateral hemiparesis • Stabilize vitals, immobilize acute injuries
• Cauda equina syndrome (CES)
O Severe back pain, sciatica, saddle
anesthesia, incontinence, sexual
dysfunction
198
.;,
BROWN-SEQUARDSYNDROME
(SSS)
osms.i-l/\>Town-seq.uo.Td-s14ndTome
COMPLICATIONS
( PATHOLOGY & CAUSES ) • Progression to complete paralysis
• AKA spinal hemiparaplegia

• Spinal cord hemisection (damage limited to
one half) - paralysis on side of lesion; loss
of sensation on opposite side • Contralateral pain, temperature loss;
• Neurological fallout from damage to spinal ipsilateral hemiparesis, proprioception/
tracts vibration sense loss
° Corticospinal tract: loss of upper motor
neuron innervation - ipsilateral spastic
paralysis, below level of lesion; damage ( D_IA_GN_O_SI_S
__ )
to lower motor neuron at level of spinal
injury - ipsilateral flaccid paralysis of DIAGNOSTIC IMAGING
muscles supplied at spinal level
MRI
O Dorsal column (medial lemniscus):
ipsilateral loss of vibration, • Unilateral spinal cord pathology/
proprioception, fine touch hemisection of spinal cord
O Spinothalamic tract: contralateral loss of
pain, temperature sensation; 1-2 levels
below lesion C T_R_EA_~_M_EN_T
__ )
OTHER INTERVENTIONS
CAUSES • Traumatic injuries
• Spinal fractures, gunshot wounds. Cervical spine/lower dorsal vertebra
°
stab wounds. crush injury, tumours, immobilization

inflammatory diseases
CAUDA EQUINA SYNDROME (CES)

osms.i-l/ eo.udo.-eq.uino.-s14ndTome
CAUSES
( PATHOLOGY & CAUSES ) • Lower back disc herniation. spinal
stenosis, cancer, trauma, epidural abscess/
• Simultaneous compression of multiple
hem atom a
lumbosacral nerve roots below level (L2)
of conus medullaris (distal bulbous part of
spinal cord) - neuromuscular. urogenital
symptoms
199
COMPLICATIONS
• Paraplegia, persistent bowel/bladder
( T_R_EA_:l"_M_EN_T
)
problems, sexual dysfunction, loss of
sensation SURGERY
• Surgical decompression (e.g. laminectomy)
(__ SI_G_NS_&_SY_M_PT_O_M_s_) OTHER INTERVENTIONS

• Red flags (urgent investigation/treatment Sudden onset CES
required) • Medical emergency
O Severe back pain; saddle anesthesia; O Early treatment (< 48hrs) of
incontinence/sexual dysfunction compressive lesions - significantly
• Muscle weakness in lower leg with absent/ better outcomes, prevents progression
reduced deep tendon achilles/patellar reflex to paraplegia
• Gait disturbance
• Sciatica-like pain in one/both legs: low back
pain, radiates down leg
• Numbness in saddle distribution
O Anesthesia/paresthesia of S3-S5
dermatomes - anesthesia/paresthesia
perineum, external genitalia, anus,
perianal region
• Loss of bowel/bladder control
• Absent anal reflex, bulbocavernosus reflex
• Decreased tone of urinary, anal sphincters
• Detrusor weakness - urinary retention/
post-voiding residual incontinence
• Sexual dysfunction
( D_IA_GN_o_s,_s __ )
DIAGNOSTIC IMAGING Figure 88.1 An MRI scan of the spine in
the sagittal plane demonstrating a L4/L5
Spine MRI (with gadolinium contrast) intervertebral disc prolapse compressing the
• Compression of S2-S4 nerve roots by cauda equina. The individual presented with
mass/herniation symptoms of cauda equina syndrome.
Bladder ultrasound
• Post-void residual > 250ml
OTHER DIAGNOSTICS
Clinical examination
• Regional anesthesia, muscle weakness,
abnormal reflexes, abnormal gait
200
NOTES

( PATHOLOGY & CAUSES ) (.____ D_IA_GN_O_s,_s)
• Vision deficit disorders OTHER DIAGNOSTICS
• Correlate with anatomical lesions along • History
visual pathway • Physical/neurologic examination
O Light ----> cornea ----> lens ----> media ----> • Cranial nerve (CN) testing
retina ----> optic nerve ----> chiasmal • CN II: visual fields and acuity
decussation ----> optic radiations (parietal,
• CN 11/111: pupillary reflex
temporal paths) ----> primary visual cortex
• CN Ill/IV/VI: ocular movement
in occipital lobe
CAUSES ( T_R_E~_~_M_EN_T
)
• Mass efrect-« impingement of structures
• Vascular -» brain parenchyma infarction MEDICATIONS
along visual pathway • Vascular: thrombolytics
SURGERY
(__ s,_G_NS_&_S_Y_M_PT_O_M_s_) • Masses: resection
• Impaired vision
201
BITEMPORAL HEMIANOPSIA
osms.i-l/\,l"lemp0Te1l_hemie1nopsie1
• Ophthalmoplegia (especially large mass
( PATHOLOGY & CAUSES ) lesions, pinealomas)
• Hormonal deficiency/excess (if pituitary
• Visional deficit: lateral vision loss
growth is functional)
O Optic chiasm lesions (commonly)
• Pathogenesis: t sellar mass size ---'> presses
optic chlasm=. impinges decussating (..____ D_IA_GN_O_SI_S )
visual fibers (most medial) ---'> bitemporal
hemianopsia DIAGNOSTIC IMAGING
MRI
CAUSES • Visualize mass at area of optic chiasm;
• Pituitary enlargement gadolinium-enhanced images aid
O Hyperplasia (i.e. pregnancy or lactation); elucidating pituitary tissue (l gadolinium
adenoma (specific, hormone-secreting uptake in pituitary)
pituitary hyperplasia); cyst; abscess
• Craniopharyngioma CT scan
• Meningioma (in sella turcica) • Less diagnostic; may reveal sellar
calcification, mass
• Saccular aneurysm (anterior
communicating artery)
• Primary malignancy
C..____ T_R_E~_~_M_EN_T )
O Germ cell tumor (AKA ectopic
pinealoma); chordoma; central nervous MEDICATIONS
system (CNS) lymphoma
• Smaller, hormone-responsive adenomas
(prolactinomas ---'> dopamine agonists first-
COMPLICATIONS line therapy)
• j size e- further impinges surrounding
structures SURGERY
° Cavernous sinus impinqernent -» CN Ill, • Neurosurgery: nasal aperture, posterior
IV, VI---'> diplopia - ophthalmoplegia nasopharynx, sublabial (upper lip) incision
• Dorsal extension of mass ---'> dorsal accesses inferior aspect of cerebrum
midbrain irnpinqernent -» Parinaud's , Fluoroscopic visualization: navigation,
syndrome pituitary visualization
o Upgaze paralysis
• First-line therapy for all other pituitary
O Pinealomas (posterior, common) adenomas, sellar masses with meaningful
visual field impingement/other symptom
severity
(..___s,_G_Ns_&_sv_M_P_TO_M_s
)
• Vision loss
O Lateral fields, both eyes (may go
unnoticed; chronic, progressive)
• Headache
• Diplopia
202
COLOR BLINDNESS
osmsJl/ eolo,--\,lindness

• Altered color perception • Limited color discrimination
• Pathogenesis
O Atypical cone type(s) function-« altered
color hue ---'> limited color discrimination ( D_IA_GN_O_SI_S __ )
(commonly)
O Optic nerve/other retinal lesions • Family, medication history
(uncommon)
OTHER DIAGNOSTICS
CAUSES • Ishihara plates: visual stimuli, colors offer
wavelength-specific stimulation for three
Congenital cone types
• Three cone types (opsins) O Inability to perceive numbers/letters on
O Red, green opsins (X-chromosome): plate---'> reveal cone type deficit(s)
most inherited color blindness X-linked
recessive ---'> predominantly biologically-
male individuals ( T_R_E~_~_M_EN_T__ )
O Blue opsin (VII-chromosome): blue
wavelength deficiency, very rare OTHER INTERVENTIONS
• Associated with Turner syndrome • No curative therapy
• Acquired disease
Acquired
= Glaucoma: regular eye examinations
• Optic neuropathies • Diabetes: glycemic control ---'> !
O Optic neuritis: persistent color blindness microvascular disease; regular eye
after visual deficit restoration; early examinations
multiple sclerosis symptom • Individual education-« lifestyle adaptation
O Diabetic retinopathy: neoproliferation, ---'> proper visual cue interpretation
microvascular disease - retinal • Unable to perceive red vs. green light
dysfunction (glaucoma)
difference on traffic signals - location
• Bilateral, ventral occipital stroke e- cerebral discrimination education ---'> top vs.
achromatopsia (rare) bottom light interpretation
Iatrogenic
• Ethambutol ---'> poor red-green
discrimination
• Digoxin---'> yellowish hue disturbance
• Other
O Ibuprofen, quinine, acetaminophen,
sildenafil citrate, tobacco
COMPLICATIONS
• Nyctalopia: limited night vision
203
CORTICAL BLINDNESS
osmsJl:/ eo,--l:ieo.1-\,lindness

__ )
• Acquired blindness: bilateral lesions to DIAGNOSTIC IMAGING
visual cortex in occipital lobe
MRI
Pathogenesis • Some cases, detects cause (e.g. vascular
• Vascular occlusion occlusion, infarction)
O Bilateral, distal posterior cerebral artery
(PCA) occlusion; commonly embolic OTHER INTERVENTIONS
O Basilar artery occlusion - !blood flow
in bilateral distal PCAs History, physical examination
• Vascular flow dysregulation - posterior • Assess non-cortical functions: normal
reversible encephalopathy syndrome pupillary light reflex
(PRES) , Limited/no visual response with intact
pupillary light reflex - blindness
neurological not ocular
CAUSES
• Primary visual cortex lesions (calcarine Fundoscopy
fissure in occipital lobe) • Normal
O Neighboring lesions - similar anopsia
__ )
• Anton-Babinski syndrome (visual
anosognosia)
MEDICATIONS
• Vascular occlusion: thrombolysis
O Individual unable to perceive vision -
blindness denial • PRES: emergent antihypertensives
O Image confabulation common
OTHER INTERVENTIONS
( SIGNS & SYMPTOMS ) • Spontaneous recovery
, Visual defects may persist (e.g.
prosopagnosia-inability to recognize
• Inability to perceive visual input faces)
• CN testing: 11/111 preserved pupillary light
reflex
204
HEMIANOPSIA
osms.i"l/he mio.nopsio.
O Lesion to non-dominant lobe
( PATHOLOGY & CAUSES ) ----. Gerstmann syndrome (finger
agnosia, acalculia, agraphia, right-left
• Individual loses half of visual field, visualization)
commonly due to retrochiasmatic lesion of
• Temporal lobe lnvolvernent-e seizure
visual tract
Pathogenesis
• Vascular
O Middle cerebral artery (MCA): complete
• Visual field loss
contralateral hemianopia
O Unilateral hemianopia: contralateral
O Unilateral posterior cerebral artery
optic tract lesion (homonymous
(PCA): contralateral hemianopia with
hemianopia); large, contralateral optic
macular sparing
radiation lesion
• Mass O Superior quadrantanopia: contra lateral
O Visual pathway compression temporal lobe lesion of optic radiation
loop
CAUSES O Inferior quadrantanopia: contra lateral
• Unilateral optic tract lesion parietal lobe lesion of optic radiation
loop
• Large (complete) unilateral optic radiation
lesion • Neurologic examination
• Quadrantanopia: sub-complete lesion, ° CN II testing: visual field
corresponds to lesioned optic radiation O Motor/sensory testing for concomitant
O Upper outer-quadrant deficit ("pie-in- symptoms
the-sky" defect) ----. temporal lobe loop
lesion
O Lower inferior quadrant deficit----. (.....___ D_IA_GN_O_s,_s __ )
parietal lobe lesion
• History, physical examination
• Large, unilateral primary visual cortex lesion
O Macular visual field spared
• Bilateral upper/lower visual cortex lesion ----. DIAGNOSTIC IMAGING
altitudinal hemianopia
MRI
O Upper/lower field visual defect
• Mass lesions/old stroke (preferred method)
COMPLICATIONS CT scan
• Vascular/mass effect territory-dependent • Mass lesion and acute, hemorrhagic stroke
• PCA distribution
Diplopia, dizziness, balance issues
O
(.....___ T_R_EA_~_M_EN_T__ )
• Anterior cerebral artery (ACA)/MCA
distribution SURGERY
O lpsilateral motor and sensory symptoms • Resection: mass compressing the visual
• Parietal lobe tnvolvernent-» contralateral pathway
neglect
205
OTHER INTERVENTIONS
• Peripheral prism spectacles
O High-power prism segments in regular
spectacle lens---> expands visual field up
to 30°
• Saccadic eye movement training (scanning
therapy)
O Individual makes compensatory
saccadic eye movements to side with
lost visibility without moving head ---> j
function, injury prevention
HOMONYMOUS HEMIANOPSIA
osms.i"l/homon14mous-hemio.nopsio.

__ )
• Lesion in optic tract -» vision loss in each • History, physical examination
eye (corresponding halves of visual field)
• Pathogenesis DIAGNOSTIC IMAGING
, Vascular: large MCA/smaller anterior
choroidal artery stroke MRI
, Mass effect: tumor, cyst, arteriovenous • Mass lesions/old stroke (preferred method)
malformation (AVM)
CT scan
• Mass lesion/acute, hemorrhagic stroke
CAUSES
• Unilateral optic tract lesion
( T_R_E~_~_M_EN_T
__ )
( SIGNS & SYMPTOMS ) SURGERY
• Resection: mass compressing the visual
• Half of visual field lost pathway
O Not relieved by monocular vision (vision
deficit persists despite closing one eye)
OTHER INTERVENTIONS
therapy)
206
NOTES
NOTES
• • AUTONOMIC DISEASES
• Autonomic nervous system (ANS) disorders DIAGNOSTIC IMAGING
(dysautonomia) • See individual diseases
• Normative autonomic function
O Balanced impulses of sympathetic, LAB RESULTS
parasympathetic ANS
• Nerve biopsy
O One/both components fail - symptoms O Neuropathy detection
• Etiology
O Genetic, environmental factors
OTHER DIAGNOSTICS
• Autonomic function test battery
CAUSES O Monitor heart rate, autonomic functions
• Primary for pathological changes
O Pure autonomic failure, familial • Valsalva maneuver
dysautonomia, multiple system atrophy, O j intraspinal pressure - neuropathic
postural orthostatic tachycardia
symptom exacerbation
syndrome (POTS)
• Quantitative sudomotor axon reflex test
• Secondary (neuropathy)
(QSART) test
O Alcoholism, diabetes mellitus, trauma, O Electrical current - sweat gland
HIV infection, multiple sclerosis, Lyme
stimulation
disease, Parkinson's disease, porphyria,
nerve compression (tumor), drug toxicity • Tilt table test
(vincristine) O Individual lies on table - table tilted
upright - detects sudden blood
pressure change
• Breadth of autonomic function - wide ( T_R_E~_~_M_EN_T__ )
symptomatic variation
• Common autonomic disease symptoms • Treat underlying cause if possible
O l ! heart/respiration rate • Mostly symptomatic treatment
O H blood pressure
O Bowel/bladder/erectile dysfunction
O Hypohidrosis/hyperhidrosis
O Syncope
1
HORNER'S SYNDROME
osms.i"l/horners-s14 nd Tome

)
• AKA oculosympathetic paresis • Classic triad: ptosis, anhydrosis, miosis
• Clinical syndrome • May present with anhidrosis (if 2nd
O Damaged sympathetic neural pathways order neurons affected), flushing
to eye, associated structures (impaired vasoconstriction), apparent
• Sympathetic innervation to eye enophthalmos (ptosis)
O Three neurons comprise pathway
0 1st order neurons: in posterolateral MNEMONIC: PAM
hypothalamus, preganglionic fibers
Signs & symptoms of
0 2nd order neurons: in ciliospinal center Horner's syndrome
(Budge's center) in intermediolateral
Ptosis
segment of spinal column (C8-T2) -
preganglionic fibers travel to superior Anhidrosis
cervical ganglion (SCG) - synapse with Miosis
3rd order neurons
0 3rd order neurons: in SCG,
postganglionic fibers follow different
paths upon leaving SCG - flushing,
absent sweating not mandatory signs
• Manifests ipsilaterally
CAUSES
• Condition manifests following pathway
interruption
• Congenital/acquired
°Congenital: may present with
heterochromia iridis as eye pigmentation
under sympathetic innervation during
development Figure 62.1 An individual with Homer's
syndrome demonstrating ptosis and miosis of
• Classification based on lesion's level
the left eye.
0 1st order neuron lesion: Arnold-Chiari
malformation, cerebrovascular insult,
basal skull tumor
0 2nd order neuron lesion: trauma, ( D_IA_GN_O_SI_S )
cervical rib, Pancoast tumor,
neuroblastoma, aorta dissection DIAGNOSTIC IMAGING
0 3rd order neuron lesion: herpes zoster,
internal carotid artery dissection, cluster X-ray
headache • Detects Pancoast tumor, shoulder trauma
MRI
• Detects aneurysm, dissection
2
LAS RESULTS O Apraclonidine: upregulation of a 1
• Vanillylmandelic acid (VMA) level receptors (t apraclonidine sensitivity) -
O Detects neuroblastoma mydriasis occurs
O Hydroxyamphetamine: 1st or 2nd order
neuron lesion - mydriasis occurs
OTHER DIAGNOSTICS (postganglionic fibers undamaged); 3rd
• Neurological exam order neuron lesion - weaker/absent
• Pharmacological diagnostics mydriasis in affected eye
O Disorder detection, lesion level
determination
° Cocaine drops: norepinephrine missing (.....___ T_R_EA_~_M_EN_T )
from synaptic cleft - absent mydriasis
• Treat the underlying cause if possible
ORTHOSTATIC HYPOTENSION (OH)

osms.i"l/or-lhos-lo.-lie-h14po-lension

• Sudden, sustained systolic blood pressure • Pale skin, vertigo, blurred vision, nausea,
(> 20mmHg)/diastolic blood pressure (> heart palpitations
lOmmHg) drop within three minutes upon
standing/ tilting head upriqht z 60°
• Delayed/lowered lower-body ( D_IA_GN_o_s,_s __ )
vasoconstriction
• Lower-body blood accumulation LAS RESULTS
while seated/supine - lower-body • Measure blood pressure
vasoconstriction delayed upon standing - ° Confirm sudden drop
! cardiac output - ! cerebral perfusion -
dizziness. blurred vision, syncope
OTHER DIAGNOSTICS
• Tilt table test
CAUSES O Provokes OH episode
• Neuropathy impairs vasoconstriction
• Baroreceptor reflex impairment (al
blockers inhibit vasoconstriction) ( T_R_EA_~_M_EN_T__ )
• Hypovolemia (absolute/relative);
atherosclerosis; diabetes mellitus; MEDICATION
Addison's disease; Parkinson's disease; • Corticosteroids
anorexia nervosa; alcohol, THC intoxication; • Antihypotensives
medication (MAOI)
• Supplemental measures (caffeine)
• Occurs in elderly/postpartum individuals
OTHER INTERVENTIONS
COMPLICATIONS • Increase blood pressure via increased fluid/
• Postural orthostatic tachycardia syndrome salt intake
(compensatory mechanism for chronic !
• Treating underlying cause
cardiac output). syncope, injury (falling)
3
NOTES
NOTES
• • BALANCE DISORDERS
__ )
• Disorders of inner ear (vestibular portion) DIAGNOSTIC IMAGING
- disequilibrium (balance loss) • CT scan, MRI
CAUSES OTHER DIAGNOSTICS

• Inner ear infections, injuries; genetic • Audiometric test
disorders, others • Neurologic examination
• Clinical manifestation
C__s,_G_Ns_&_sv_M_PT_O_M_s_)
• Vertigo C T_R_E~_~_M_EN_T
__ )
O Spinning sensation of oneself/
surroundings MEDICATIONS
• Hearing loss, tinnitus • Antibiotics (causitive)
• Antihistamines, antiemetics,
anticholinergics (symptomatic)
SURGERY
• Causative treatment
OTHER INTERVENTIONS
4
LABYRINTHITIS
osms.i"l/lo.\,14Tin-1:hi-lis
( PATHOLOGY & CAUSES ) (..____ D_IA_GN_O_s,_s

__ )
• Inner ear (labyrinth) inflation OTHER DIAGNOSTICS
• Damage of auditory, vestibular-end organs • Head, neck examination
responsible for hearing, retaining balance • Nystagmus
(rotational, linear-motion sensation) • Neurologic examination
• Positive Romberg's test: inability to
CAUSES maintain postural control
• Viral infection (rubella virus, • Abnormal tandem gait: inability to walk
cytomegalovirus, mumps virus) in straight line with one foot in front of
• Bacterial infection other (heel-to-toe)
O Streptococcus pneumoniae, • Head impulse, Nystagmus, and Test of
Haemophilus influenzae, Neisseria skew (HiNTs) examination
meningitidis; most commonly meningitis/ • Positive head-thrust test: inability to
otitis media complication maintain visual fixation when head
• Head injury, stress, allergy, medication turned rapidly toward side of lesion by
examiner
O Negative test of skew
RISI( FACTORS
• Direction-changing nystagmus
• Upper respiratory tract infection
COMPLICATIONS ( T_R_EA_~_M_EN_T
)
• Permanent hearing loss
MEDICATIONS
• Inflammation
) Corticosteroids °
• Bacterial infection
• Severe vertigo (oneself/surroundings seem O Antibiotics
spinning), associated symptoms
• Symptomatic treatment
• Fatigue, nausea, vomiting
Antihistamines,
O antiemetics,
• Rotational motion signalization impairment
anticholinergics
- nystagmus
• Tinnitus, hearing loss
• Gait impairment
OTHER INTERVENTIONS
• Self-limiting
O Recovery in 1-6 weeks
O Head, eye movement, postural change,
walking exercise
5
MENIERE'S DISEASE
osms.it/ menieTes-diseo.se

• Idiopathic inner-ear disorder OTHER DIAGNOSTICS
O Vertigo, progressive hearing loss • Diagnostic criteria
, Two/more unprovoked vertigo episodes
CAUSES (each last> 20 minutes)
• Exact cause unknown n Audiometrically-confirmed sensorineural

hearing loss in affected ear on at least
O Likely abnormal fluid, ion homeostasis in
one occasion before/during/after vertigo
inner ear (endolymphatic hydrops)
episode
• Possibly due to endolymphatic sad
n Tinnitus/fullness feeling in ear
duct blockage, viral infection, vestibular
aqueduct hypoplasia, vascular constriction
(....___ T_R_E~_iT_M_EN_T__ )
RISI( FACTORS
• Children MEDICATIONS
° Congenital inner-ear malformations • Symptomatic treatment
• Family history (10% familial) , Antihistamines, antiemetics,
anticholinergics
SURGERY
• Symptoms do not improve
• Spontaneous vertigo episodes (last 20
, Surgical decompression of
minutes-24 hours). associated symptoms
endolymphatic sac
(fatigue. nausea, vomiting); tinnitus,
progressive hearing loss
• Less common OTHER INTERVENTIONS
O Drop attack (sudden fall with preserved • Sodium restriction, diuretics may alleviate
consciousness) symptoms (unknown efficacy)
6
SCHWANNOMA
osmsJI:/ sehwo.nnomo.
OTHER DIAGNOSTICS
( PATHOLOGY & CAUSES ) • Neurologic examination
= Cranial nerve deficit
• Benign nerve-sheath Schwann cell tumor
• Involves any peripheral nerve • Audiometry
= Confirms sensorineural hearing loss
O Most commonly affects head, neck
nerves; vestibular nerve (vestibular
schwannoma)
• Associated with neurofibromatosis type II
( T_R_EA_~_M_EN_T
__ )
(presents with bilateral schwannomas)
SURGERY
° Caused by loss-of-function mutation
• Excision
in neurofibromin 2 (NF2) gene that
encodes tumor-suppressor protein
merlin (schwannomin) OTHER INTERVENTIONS
• Radiation therapy
RISk FACTORS , Stereotactic radiosurgery, stereotactic
• Childhood radiation treatment radiotherapy, proton beam therapy
COMPLICATIONS
• Very rarely become malignant
(neurofibrosarcoma degeneration)
• Left untreated
O Brainstem compression, cerebellar tonsil
herniation, hydrocephalus
• Cochlear nerve involvement----> hearing Figure 63.1 The histological appearance of a
loss, tinnitus Schwannoma demonstrating characteristic
• Vestibular nerve involvement----> walking Antoni A and Antoni B areas.
disequilibrium
• Trigeminal nerve involvement----> facial
paresthesia, hypoesthesia, pain
• Facial nerve involvement----> facial paresis,
gustatory disturbances; xerophthalmia,
paroxysmal lacrimation, xerostomia
( D_IA_GN_o_s,_s
__ )
DIAGNOSTIC IMAGING
MRI Figure 63.2 The gross pathology of an
excised schwannoma.
• Mass detection
7
VERTIGO
osms.i"l/ veT-ligo

)
• Sensation that oneself/surroundings are • Peripheral vertigo
spinning , Mild-moderate disequilibrium (dizziness,
O Symptom, not disease lightheadedness)
• Labyrinth, vestibular nerve, vestibular , Spinning sensation; fatigue, nausea,
centers (in brainstem) damage/dysfunction vomiting; hearing loss, tinnitus, fullness,
ear pain
CAUSES • Central vertigo
• Peripheral vertigo
O Severe disequilibrium
° Calcified otoliths in posterior

O Less prominent spinning sensation,
semicircular canal (canalithiasis) ----. nausea than peripheral vertigo
benign paroxysmal positional vertigo O May be accompanied by neurologic
(most common) deficits, nystagmus
O Labyrinthitis, Meniere disease, herpes
zoster oticus
• Central vertigo
)
Vestibular migraine; brainstem ischemia;
O
DIAGNOSTIC IMAGING
cerebellar infarction, hemorrhage;
multiple sclerosis MRI/CT scan
• Suspected central vertigo
, Central nervous system abnormalities
MNEMONIC: VOMITS
Causes of vertigo
OTHER INTERVENTIONS
Vestibulitis: labyrinthitis or
vestibular neuronitis Vestibular system function tests
Ototoxic drugs • Differentiate vertigo from other dizziness
Meniere's disease causes
Injury • Electronystagmography
Tumor • Dix-Hallpike maneuver
Spin: benign paroxysmal O Individual sits, head rotated 45° towards
positional vertigo ear being tested ----. individual lowered to
supine past bed's end, extends neck 20°
below horizontal ----. vertigo, nystagmus
reproduced ----. test positive
• Head-thrust test
O Individual fixates on target while head
is rotated quickly----. catch-up saccades,
nvstaqrnus e- test positive
8
• Rotation test
O Individual accelerates, decelerates in
( T_R_E_AT_M_E_N_T
__ )
rotating chair - analyze postrotatory
nystagmus - test positive
MEDICATIONS
• Vestibular migraines (underlying cause)
• Caloric reflex test
, Anticonvulsants, beta blockers
° Cold/warm water/air irrigation into
external auditory canal • Symptomatic treatment
, Antihistamines, antiemetics,
Audiometry anticholinergics, benzodiazepines
• Assess hearing loss
OTHER INTERVENTIONS
9
NOTES afratafreeh.com exclusive
NOTES
•• BRAIN ISCHEMIA
( PATHOLOGY & CAUSES ) C D_IA_GN_o_s,_s)
• Impaired brain function due to lack of blood DIAGNOSTIC IMAGING
CT scan
TYPES • Visualize trauma, bleeding, skull fracture
Focal ischemia
MRI
• Occlusion of blood vessel - ! perfusion - • Visualize hypointense, hyperintense blood
affected regions damaged
clot
• !oxygen - ischemic stroke
• Blood vessel rupture - hemorrhagic stroke; MR/CT angiography
bleeding inside parenchyma/between brain • Visualize occlusions, aneurysms
membranes
Global ischemia (..____ T_R_E~_~_M_EN_T )

• Cardiac arrest - whole brain
hypoperfusion - brain damage MEDICATIONS
• Antiplatelet medications (e.g. aspirin/
CAUSES clopidogrel)
• Atherosclerotic plaque/thrombosis/emboli • IV tissue plasminogen activator (tPA)
• Hypertension • Mannitol, other osmotic diuretics
• Blood vessel malformation , j intracranial pressure treatment
• Cardiac arrest, tachycardia. congenital
heart problems SURGERY
• Tumors • Evacuation of blood clot
• l intracranial pressure treatment
) OTHER INTERVENTIONS
• Altered consciousness; weakness; • Manage conditions that worsen prognosis
problems with vision, hearing, swallowing; (e.g. hyperglycemia. fever)
dizziness, vertigo
• See mnemonic for common symptoms
MNEMONIC: FAST
Common stroke symptoms
Facial drooping
Arm weakness
Speech difficulties
Time: reminder to call
emergency services
10
EPIDURAL HEMATOMA
osms.tl:/ epiduTo.l_hemo.-lomo.
O Spontaneous spinal hematoma (very
( PATHOLOGY & CAUSES ) rare)
• Systemic lupus erythematosus
• Nervous tissue compression due to
O Vasculitis, associated with immune
accumulation of blood in epidural space
system reaction
• Head trauma - skull fracture - damage
• Coagulopathies, bleeding diathesis, sickle
of blood vessels through dura mater -
cell anemia
extradural blood accumulation - rapid,
limited expansion of hematoma due to tight
dura adherence at cranial sutures - brain COMPLICATIONS
tissue compression - neurological decline • I intracranial pressure
• Supratentorial herniation - compression of
TYPES arteries - ischemic stroke
• lnfratentorial herniation - brainstem
lntracranial compression - heart, respiratory arrest
• Frontal injuries • Paralysis/sensory loss
O Anterior ethmoidal artery • Seizures
• Temporoparietal (most common)
O Middle meningeal artery
• Occipital ( s,_G_NS_&_SY_M_PT_O_M_s_)
O Transverse, sigmoid sinus
• Initial loss of consciousness, lucid state
• Vertex
if blood slowly accumulating; delayed
O Superior sagittal sinus
neurological deterioration consequence of
Spinal enlarging hematoma compression
• Venous plexus of lumbar, thoracic regions • lntracranial epidural hematoma
O Broken skull with hematoma
O Otorrhea/rhinorrhea
CAUSES O Altered consciousness
• Neurosurgical procedures complication
• f intracranial pressure
• Trauma
O
Headache
lntracranial epidural hematoma O Nausea with vomiting
• Head trauma - pterion skull fracture (most ° Cushing reflex (j blood pressure, ! heart
common) rate, irregular breathing)
• Blood vessel malformations ° Focal signs (weakness of extremities on
opposite side; dilated pupil on injured
Spinal epidural hematoma side due to compression of CN Ill)
• Trauma (e.g. lumbar puncture/epidural • Spinal epidural hematoma
anesthesia) O Radicular back pain (resembles pain
from herniated discus)
RISI( FACTORS O Sensory defects
• More common in individuals who are O Urinary, fecal incontinence
biologically male, between 2-60 years
• Pregnancy
11
MRI
• T2-WI: acutely
, Hypointense blood clot due to
deoxyhemoglobin
• Tl, T2-WI: in following weeks
O
Deoxy - methemoglobin; hyperintense
blood clot
• Tl-WI: months later
O Methemoglobin - hemosiderin;
hypointense mass
C.____ T_R_E~_~_M_EN_T__ )
MEDICATIONS
• Mannitol, other osmotic diuretics
, j urine excretion, ! intracranial pressure
Figure 64.1 A CT scan of the head in the • Anticoagulation reversal
axial plane demonstrating a large epidural = Individuals undergoing surgery, on
hematoma with a classical biconvex shape. anticoagulation therapy
SURGERY
( D_IA_GN_o_s,_s__ ) • Craniotomy
, Evacuation of blood mass
DIAGNOSTIC IMAGING • Embolization/ligation of damaged blood
vessel
X-ray
• Trephination (burr-hole)
• Skull fracture
= In acute EDH, if neurosurgical procedure
CT scan delayed
• Hematoma: typically presents as a • Laminectomy
biconvex, relatively heterogeneous, high = ! blood in spinal epidural hematoma
density mass in the space between skull,
brain; does not cross sutures
OTHER INTERVENTIONS
• Swirl sign: bleeding into blood clot, diverse
• Observation, nonoperative management
hypoattenuated foci
, Awake, conscious individuals
• Assess hematoma volume
, If hematoma volume < 30cm3, thickness
• Skull fracture
< 15mm, midline shift< 5mm
12
INTRACEREBRAL HEMORRHAGE
osms.i-l/in-lY-o.eeY-e\>Y-o.1-hemoY-Y-ho.ge
• Posttraumatic
( PATHOLOGY & CAUSES ) • Coagulopathies
• Condition characterized by blood vessels
rupture - intraparenchymal blood
accumulation RISI( FACTORS
• Blood vessel trauma, rupture - creates • Individuals who are biologically male of
pool of blood - tissue, surrounding Asian descent
blood vessel compression - hypoxia in • Black individuals who are biologically male
downstream tissue - damage due to of African descent
compression, oxygen lack
• Heavy alcohol use; amphetamines, cocaine
abuse, antithrombotic medications; I
CAUSES LDL, cholesterol, triglycerides; previous
cerebrovascular insult
Hypertension
• Most common
COMPLICATIONS
• Leads to
• Hemorrhage enlargement
O Atherosclerosis in large arteries
• In hemorrhage border
O Hyaline arteriolosclerosis - focal
, Poor prognosis
arterioles necrosis - small wall ruptures
• lntraventricular, subarachnoid expansion
- subclinical microbleeds
° Charcot-Bouchard aneurysms • Hydrocephalus
(microaneurysms)
• Basal ganglia; thalamus; midbrain; pons;
cerebellum primarily affected
Vascular abnormalities • Begin slowly, worsen gradually
• Cerebral amyloid angiopathy • Enlargement of hematoma within few
O Deposition of amyloid in blood vessel hours, j intracranial pressure
walls - vessels more prone to rupture , Altered consciousness, headache,
O Lobar localization: parietal, occipital nausea, vomiting, unequal pupil size
lobes • Fever
O Blood vessels: leptomeningeal, cerebral
Area of brain affected
cortical arterioles
• Anterior/middle cerebral artery: numbness,
• Arteriovenous malformations sudden muscle weakness
O Usually affect children • Posterior cerebral artery: impaired vision
• Aneurysm, vasculitis, vascular tumours (e.g.
• Broca's area: slurred speech
hemangioma)
• Wernicke's area: difficulty understanding
Other causes speech
• Secondary to ischemic stroke
Focal neurological signs
O Blood flow blockage - reperfusion • Basal ganglia manifestation: loss of
- j chance of blood vessel rupture - contralateral sensory, motor functions;
bleeding into dead tissue (hemorrhagic
conversion)
• Thalamus: contralateral loss of
13
sensory, motor functions; homonymous MR angiography
hemianopsia; aphasia if dominant/neglect if • Vasculitis, arteriovenous malformations,
nondominant; narrowed pupils unreactive other blood vessel pathology
to light
• Lobar manifestation: homonymous
hemianopsia; if frontal region, contra lateral
LAB RESULTS
leg plegia/paresis; seizures • Prothrombin time (PT). activated partial
thromboplastin time (aPTI), platelet count
• Pons: coma within few minutes of
hemorrhage; quadriplegia, miosis/deafness; , If cause for bleeding diathesis unclear
speaking difficulties when awake
• Cerebellum: ataxia; same side face
weakness; loss of face, body sensory
(.____ T_R_E~_~_M_EN_T__ )
function; occipital headache, neck stiffness
MEDICATIONS
• Vitamin K, unactivated prothrombin
( D_IA_GN_o_s,_s__ ) , With anticoagulant usage
• Protamine sulfate
DIAGNOSTIC IMAGING , For heparin users
• Anti pyretics
CT scan
, Fever reduction
• Hyperdense blood mass acutely; isodense,
ring enhancement appearance in • Osmotic diuretics (e.g. mannitol)
subsequent weeks; hypodense chronically , Regulation of j ICP
• Trauma • Saline
O Multifocal bleedings , Fluid replacement
• Coagulum retracts, edema develops • Nicardipine/nitroprusside/enalapril/
° Confused with hemorrhagic infarction nitroglycerin
, Hypertension
CT angiography • Phenytoin/levetiracetam
• Spot sign: unifocal/multifocal enhancement , Seizures
of contrast; j risk of hematoma expansion
MRI (T2-WI) SURGERY

• Hyperacute (first 24 hours) • Ventriculostomy
O Hyperintense center of mass , Regulation of j intracranial pressure
O Hypointense periphery, border • If hemorrhage > 3cm/1.2in/lobar of young
• Subacute persons/brainstem compression
O Hypointense in > three days: , Craniotomy with clot removal
intracellular methemoglobin , Stereotactic aspiration
O Hyperintense in > seven days: , Endoscopic evacuation
lysis of red blood cells; extracellular
methemog lo bin
° Chronic: hypointense; after two weeks
14
axial plane demonstrating a right-sided,
periventricular, intracerebral hemorrhage.
ISCHEMIC STROl(E
osms.tl/isehemie-s-lTolce
few minutes of stroke
( PATHOLOGY & CAUSES ) , Blood flow< 10ml/100g tissue/minute
• lschemic penumbra
• Decreased blood supply in specific brain
area due to blood vessel obstruction ----. = Periphery of affected region preserved
hypoperfusion, tissue hypoxia, infarction due to collateral circulation; chance of
survival if blood restored quickly
• ! blood flow----. lack of oxygen, glucose in
brain-e- ! adenosine triphosphate (ATP) = Blood flow< 25ml/100g tissue/minute
production, electrochemical gradient----. cell = Infarction zone spreads if blood supply
death not restored quickly
Two mechanisms of cell death

• Sodium buildup: water follows sodium ----.
TYPES
cell swelling, death Five subtypes (TOAST classification)
• Calcium buildup: creates oxygen radicals • Large artery atherosclerosis
- damages mitochondrial, lysosomal
• Small artery strokes
lipid membrane - seeping of degradative
• Cardioembolic infarction
enzymes, apoptosis-inducing factors - cell
death ° Formation of emboli in heart - lodging
in brain arteries
Two zones • Other determined pathology
• lschemic core • Undetermined pathology
O Brain tissue dies from ischemia within
15
CAUSES Moyamoya disease
• Progressive stenosis of cerebral arteries -
Thrombosis
ischemia
• May lead to obstruction inside blood vessel
• Narrowing of blood vessel due to Dissection of artery wall
atherosclerotic plaque - gradual ! blood
flow RISI( FACTORS
• Damage to atherosclerotic fibrous cap
• Age (esp. > 55)
- platelet, clotting cascade activation -
thrombus formation with sudden stop of
biologically male
blood flow
• More common in black individuals of
Embolism African descent
• Four classes based on emboli origin • Migraine headaches with aura
° Cardiac emboli: atrial fibrillation, • Genetics; specific gene loci associated with
rheumatic valve disease, infective stroke subtypes
endocarditis, dilated cardiomyopathies, , ABO loci: all subtypes
left atrial myxoma , HDAC9: large vessel stroke
O Possible cardiadaortic emboli: , PITX2, ZFHX3: cardioembolic stroke
calcification of mitral valve annulus,
• Hematologic disorders
patent fora men ova le, atheroma in
O Multiple myeloma, sickle cell disease,
ascending/arch of aorta, atrial septal
polycythemia vera; esp. in younger
aneurysm
individuals
O Arterial emboli: detachment of blood
• Hypertension, diabetes mellitus,
clot (e.g. atherosclerotic plaque in bigger
heart diseases, dyslipidemia,
upstream artery) - emboli travels
hyperhomocysteinemia, smoking, physical
through blood - lodges in smaller
inactivity, cocaine abuse
downstream artery
° Cryptogenic: unknown origin of emboli
COMPLICATIONS
Lacunar infarct • Blood reaches infarcted regions through
• Affects small blood vessels of distal collateral blood vessel/dissolution of
vertebral, basilar artery, middle cerebral occlusive embolus/thrombus; first week
artery, circle of Willis
O Lipohyalinosis: buildup of hyaline in Hemorrhagic transformation
arterioles wall - hypertrophy of tunica • lschemia - impaired cellular, metabolic
media - progressive narrowing of functions of affected region; j permeability
arterioles until blood flow stops of damaged blood vessels - resolved
O Microatheromatoma: narrowing of cause of ischemia - restored blood flow -
blood vessel due to debris accumulation blood extravasation
within wall • Gray matter more commonly affected;
large number of collateral vessels worsen
Hypoperfusion reperfusion injury
• Lack of blood reaching brain due heart • Massive cerebral infarction; hyperglycemia;
failure, ! cardiac output ! cholesterol, LDL, IV recombinant tissue
• Most vulnerable plasminogen activator (rtPA): higher risk of
O Spaces between supply of two arteries hemorrhagic transformation
(watershed regions)
Cerebral edema
Inflammation of blood vessel wall • l intracranial pressure with possible
• E.g. Takayasu/giant cell arteritis herniation
n Cytotoxic: defective ATP pump, swelling
of brain cellular elements due to water
16
accumulation difficulties; facial weakness; hand
O Vasogenic: j permeability of blood-brain weakness, clumsiness (clumsy hand
barrier - j extracellular fluid volume syndrome)
due to j passing of proteins, other
Anterior cerebral artery
macromolecules
• Contralateral hemiparesis (esp. leg, face),
Liquefactive necrosis sensory deficit; inability to understand,
• First 48 hours: edema, paleness of affected produce speech (left hemisphere); impaired
region judgment; incontinency
• 2-10 days: affected area gelatinous; Middle cerebral artery
noticeable border between healthy,
• Contralateral paresis (esp. face, arm),
damaged tissue
sensory deficit; inability to understand,
• 3-21 days: liquefaction of tissue; fluid-filled
produce speech (left hemisphere);
cavity
hemispatial neglect (right hemisphere);
Seizures homonymous hemianopsia; deviation of
eye to damaged side
• Brain injury - j irritability of nervous tissue
with neuronal discharges Posterior cerebellar artery
Deep vein thrombosis • Homonymous hemianopsia
• Esp. immobilized individuals • Cortical blindness (bilateral lesion)

• Midbrain
Pneumonia O
Oculomotor, trochlear palsy - dilated
• Swallowing mechanism impairment - pupil
aspiration pneumonia • Thalamus
• lntubation/ventilatory support - j risk for O Sensory loss, impaired memory, altered
pneumonia consciousness
• Posterior cerebellar artery syndrome (PICA)
Dysphagia
• Due to damage of cortex, subcortical
O AKA "Wallenberg" syndrome
structures responsible for swallowing O Dizziness, nystagmus; speech,
swallowing difficulties
Dementia O lpsilateral: facial sensory loss, Homer's
• Altered memory, cognition, behavior due to sign, ataxia
brain damage ° Contralateral: loss of pain, temperature
sensation in limbs
(__ s,_G_NS_&_S_Y_M_PT_O_M_s_) Basilar, vertebral arteries

• Dizziness; gait, vision disorders; dysarthria,
Thrombosis dysphagia
• Neurological defects • Locked-in syndrome
O Thrombosis/embolism of basilar artery
Embolism
O Plegia of head, body muscles, except
• Sudden start of symptoms; maximum
eye; only blinking, vertical eye
defects
movement possible
Lacunar stroke
• Contralateral, mostly motor/sensory
defects; four syndromes
( D_IA_G_N_os_,s )
O Pure motor stroke: internal capsule
DIAGNOSTIC IMAGING
lesion
• If applicable
O Pure sensory stroke: thalamus lesion
O Ataxic hemiparesis Noncontrast CT scan
O Dysarthria: speech, swallowing • First few hours
17
O Affected tissue appears normal
• Later
O Loss of differentiation between white,
grey matter
O Hypodense parenchyma with sulcal
effacement
O Loss of insular ribbon sign
CT perfusion
• Detection of core, ischemic penumbra
CT angiography
• Find thrombus, embolus in blood vessel/
intra-arterial thrombolysis
MRI
• Tl, T2 weighted imaging (see table)
• Diffusion-weighted imaging
O Shows ischemic stroke early;
differentiation from acute, chronic
• Fluid-attenuated inversion recovery (FLAIR) axial plane demonstrating a large ischemic
sequence stroke in territory of the middle cerebral
O Hyperintense signal within 12 hours artery. The scan was performed three days
after the onset of symptoms.
Transcranial Doppler ultrasound
• Visualization of occlusion in middle cerebral
artery/intracranial carotid/vertebrobasilar
artery ( T_R_E~_~_M_EN_T__ )
Conventional angiography MEDICATIONS
• Visualize occlusion; for confirmation of CTA, • Establishment of blood flow in ischemic
MRA findings penumbra
, Thrombolytic enzymes: rtPA;
LAB RESULTS alteplase given within 4.5 hours; after
• Blood tests hemorrhagic stroke ruled out
O f cardiac markers in heart disease , Antiplatelet therapy: aspirin (325mg
orally within 48 hours); other drugs (e.g.
O r erythrocytes in polycythemia vera
clopidogrel/aggrenox)
O Toxicology screening (individual
suspected of sympathomimetics abuse) • Hypertension treatment
O IV labetalol/nicardipine: only if systolic
O r blood glucose level
pressure> 220, diastolic> 120
mmHg; except in individuals with vital
OTHER DIAGNOSTICS indications for lowering blood pressure
• Symptoms, neurological changes scoring (acute myocardial infarction, kidney
• Based on National Institute of Health stroke failure, dissection of aorta)
scale (NIHSS) • Cerebral edema management
O Antipyretic: if temperature ::::: 40°C/
ECG 100.4°F
• Detection of myocardial ischemia/atrial O IV insulin: hyperglycemia; keep glucose
fibrillation between 140-180 mg/di (7.8-10
mmol/L)
18
• Prevention OTHER INTERVENTIONS
O Anticoagulant medications: emboli • Cerebral edema management
prevention (e.g. warfarin, aspirin) = Hyperbaric oxygen therapy: j pure
oxygen supply in damaged regions
SURGERY = Fluid management: isotonic saline
without dextrose
• Establishment of blood flow in ischemic
penumbra • Protection of airwaves, prevention of
aspiration
O Mechanical embolus removal in cerebral
ischemia (MERCI) retriever = Head elevation by 30%, nothing by
mouth/nil per os (NPO) status
O Penumbra system (aspiration,
extraction) • Prevention
O Solitaire revascularization device, Trevo = Control risk factors (for atherosclerosis):
(stent-retriever systems) e.g. smoking, hypertension, diabetes,
aspirin use; carotid endarterectomy
• Cerebral edema management
= Lifestyle alteration: exercising,
o Craniectomy
appropriate diet
PSYCHOTHERAPY
• If applicable
• Type of psychotherapy (e.g. group
therapy, exposure therapy) with goal of
psychotherapy
Absent flow void signal (2 hours);

Hypotense signal
Hypcrintcnsc siqnal from
(16-24 hours}
attcctcd region (8 hours}
Tl. T2-WI masked by

reperfusion in 24-48
hours - fogging
phenomenon
19
SACCULAR ANEURYSM
osms.i"l/seccu lo.-r-o.neu-r14sm
disease (ADPKD), bacterial endocarditis,
( PATHOLOGY & CAUSES ) fibromuscular dysplasia
• Familial predisposition; smoking; alcohol,
• Asymmetrical ballooning of blood vessel cocaine use; hypertension; trauma
wall
• Bifurcation of arteries common place esp.
on circle of Willis due to weakness of wall, COMPLICATIONS
turbulent blood flow • Warning leaks
O Anterior communicating (most , May precede aneurysm rupture; strong
common); posterior communicating; headaches, photophobia, nausea/
middle cerebral; internal carotid; basilar vomiting
artery tip • Rupture----. subarachnoid hemorrhage
, Apex of aneurysm/atheromatous plaque
TYPES edge
O j risk in smokers, individuals with
Type A migraines, elderly, affection of posterior
• Blood vessel wall with endothelium, linear circulation, larger size
smooth muscle • lschemia
, Thrombus forms within aneurysm ----.
Type B
detachment of small particles (emboli)
• Disorganization of smooth muscle, ----. emboli lodges----. ischemia of
thickening of wall downstream tissue
TypeC • Multiple aneurysms
• Hypocellular wall with thickening of inti ma/
luminal thrombosis
Type D
• Hypocellular wall coated with thin • May be asymptomatic if small
thrombosis layer • Mass effect symptoms due to size
O Anterior communicating artery: both leg
weakness with positive Babinski sign
CAUSES
, Posterior communicating, internal
• Inborn defect of arteries, lack of external
carotid artery: headaches with palsy of
lamina, tunica medla -s hemodynamic
stress over years ----. gradual ballooning oculomotor nerve
O Left middle cerebral artery: inability to
of blood vessel wall, thickening of inti ma,
adventitia understand, produce speech
, Right middle cerebral artery:
contralateral field vision loss
RISI( FACTORS
biologically female, > 50 years (due to
estrogen deficiency)
• Diseases associated with aneurysm
O Ehler-Danlos syndrome,
pseudoxanthoma elasticum, lupus,
autosomal dominant polycystic kidney
20
)
• Endovascular management
CT/MR angiography
, Aneurysmal coiling with thrornbosls c-
• Detect aneurysms > 2mm
endothelialization across aneurysm neck
----. prevents rebleeding, regrowth
• In development: stent-assisted, balloon-
assisted coiling; disruptors, flow
diverters
• Surgical clipping
OTHER INTERVENTIONS
• Regular monitoring with CTA/MRA
• Avoid smoking, alcohol, drugs. excessive
strain
SUBARACHNOID HEMORRHAGE
(SAH)
osms.i"l/ su\>o.To.ehnoid-hemoTTho.ge
• Smoking; hypertension; alcohol, cocaine
( PATHOLOGY & CAUSES ) abuse
• Diseases associated with saccular
• Bleeding into space between pia mater,
aneurysm (e.g. blood vessel disorders,
arachnoid membrane Ehlers-Danlos syndrome, Marfan
• Injury/spontaneous event-» rupture of syndrome, polycystic kidney disease)
blood vessel in subarachnoid space ----.
release of blood into cerebrospinal fluid
r
(CSF) ----. rapid intracranial pressure
• Coagulopathies
CAUSES COMPLICATIONS
• Vasospasm
• Traumatic: head injury (e.g. bridging vein
O Delayed ischemia; 4-11 days after SAH
tear)
• Spontaneous: arterial origin (more • Blood clot lysis ----. release of
common) spasmogenic substances (e.g.
endothelin), ! production of nitric oxide
O Rupture of saccular "berry" aneurysms
----. vasospasm due to smooth muscle
(e.g. anterior half of circle of Willis)
contraction-« brain ischemia
O Arteriovenous blood vessel
• Hydrocephalus
malformations
°Clogging of CSF drainage
• Rebleeding
RISI( FACTORS O May occur two weeks after SAH

O j tendency in individuals with
biologically female, elderly
21
hypertension, anxiety, seizures post- O j intracranial pressure - abducens
SAH nerve paralysis - eye pointing out -
O Associated with j mortality, neurological diplopia
damage
• Sympathetic hyperactivity due to j
intracranial pressure, SAH ("sympathetic ( D_IA_GN_o_s,_s )
surge") - sudden, life-threatening t of
blood pressure due to vasoconstriction DIAGNOSTIC IMAGING
• j plasma adrenaline levels due to Noncontrast CT scan
sympathetic hyperactivity - arrhythmias
• Fisher scale grading
• Over-action of sympathetic nervous
, Group 1: no hemorrhage
system - pulmonary vasoconstriction
, Group 2: blood depositions < lmm,
- I capillary permeability, pressure -
without blood clots
neurogenic pulmonary edema
, Group 3: blood depositions > lmm, with
• Hyponatremia
localized clots
• Meningitis (irritation from presence of
, Group 4: diffuse/lack of subarachnoid
blood)
hemorrhage with extension to
• Seizures
ventricles, brain parenchyma
• Hydrocephalus
(__ s,_G_NS_&_S_Y_M_PT_O_M_s__ ) 0 "Mickey Mouse" ventricular system
appearance
• Area of brain
MRI
O Anterior/middle cerebral artery:
• Visualize arteriovenous malformations (not
numbness, sudden muscle weakness
detected by angiography)
O Broca's area: slurred speech
O Wernicke's area: difficulty Digital-subtract
ion cerebral/CT/MR angiog-
understanding speech raphy
• j intracranial pressure • Visualize aneurysm
O Thunderclap headache: "worst ever"
headache; may be only symptom LAB RESULTS
O Nausea, vomiting • Identify hematologic abnormalities
• Altered consciousness; coma, confusion. • PT, aPTT: identify coagulopathies
seizures • I troponin, if heart abnormalities present
• Meningeal irritation: bleeding into
subarachnoid space filled with CSF -
blood degradation - irritation of meninges. OTHER DIAGNOSTICS
development of aseptic meningitis • Lumbar puncture
O Neck pain, stiffness , i erythrocytes in all three samples
O Positive meningeal signs: Kernig's (pain , CSF centrifugation: yellow coloration
generated by knee extension from 90°); due to erythrocytes breakage, release
Brudzinski's (forced neck flexion - of heme ("xanthochromia"); positive 3-4
spontaneous knee. hip flexion) weeks after SAH
O Photophobia • Physical examination
• Focal neurological signs ° Characteristic neurological presentation;
O Posterior communicating artery fever; tachycardia; fundoscopy (optic
aneurysm rupture/brain herniation due disc swelling, retinal hemorrhages)
to j intracranial pressure - oculomotor
ECG
nerve paralysis - ipsilateral ptosis; eye
pointed down, out; mydriasis, loss of • l QRS, QT intervals; ! PR intervals; U
waves; dysrhythmias
pupillary light reflex
22
( T_R_E~_~_M_EN_T
)
MEDICATIONS
• Antihypertensive therapy: beta-blockers;
hydralazine, calcium channel blockers; ACE
inhibitors
• lntracranial pressure treatment: osmotic,
loop diuretics
• Prior all procedures: IV midazolam (initial
treatment)
• Vasoconstriction treatment: calcium
channel blocker (e.g. nimodipine).
recombinant tissue plasminogen activator
• Seizure treatment: phenytoin/phenobarbital
Figure 64.4 A CT scan of thea head in the
• Pulmonary edema treatment: diuretics. sagittal plane demonstrating high signal in
dobutamine the sulci of the frontal lobe, consistent with a
subarachnoid hemorrhage.
SURGERY
• Aneurysm treatment: endovascular coiling
(with aneurysm obliteration), craniotomy
(with aneurysm neck clipping, coiling)
• Vasoconstriction: aspiration/irrigation of
blood clot during clipping process, CSF
drainage, transluminal balloon angioplasty
• Hydrocephalus: temporary/serial lumbar
puncture for CSF drainage, permanent
ventricular shunt, ventriculostomy
OTHER INTERVENTIONS
• Vital sign stabilization
• Intubation if comatose, heart monitoring
(initial treatment)
• Keep blood pressure < 140mmHg to avoid
rebleeding
23
SUBDURAL HEMATOMA (SDH)
osmsJl/ su \,du,-o.1-hemo..lomo.
of brain on surrounding structures-«
( PATHOLOGY & CAUSES ) bridging veins tear
• lntracranial bleeding with blood
accumulation between dura mater, • Spontaneous
arachnoid membrane 'Vascular malformations
• Head trauma=« tearing of venous • Neurosurgical procedure complication
blood vessels/small cortical arterles=-
blood accumulation ----> limited blood RISI( FACTORS
mass expansion due to adherent dural
• Brain atrophy elderly
attachments ----> brain tissue compression
' i bridging veins stretch
• Infants, alcohol abusers
TYPES O Thinner wall of bridging veins
Acute • Epilepsy, anticoagulant drugs,
• Slow blood outflow into subdural space thrombocytopenia
due to low pressure in bridging veins
COMPLICATIONS
Subacute
• Liquefaction of granulation tissue in chronic
• Combination of fluid, clotted blood
subdural hematoma (subdural hygroma)
Chronic ----> I protein ----> expansion of mass due to
water drawn by osmotic pressure ----> mass
• Caused by minor trauma/inflammation
effect brain injuries
• More common in elderly
• I intracranial pressure ----> supratentorial,
• Head trauma with small bleeding, dural
infratentorial herniation of brain
border cell damage----> inflammation,
• Progressive dementia in chronic subdural
unsuccessful attempt to repair border
hem atom a
cells with formation of granulation
tissue ----> encapsulation; development
of blood vessels within new membrane
----> erythrocytes, plasma exudation from ( s,_G_NS_&_S_Y_M_PT_O_M_s_)
leaky capillaries to encapsulated space---->
recurrent bleeding with expansion • Loss of consciousness after trauma/in
ensuing days due to hematoma expansion
• Bleeding characteristics
CAUSES O Hemispheric: most common
• Head trauma (most common) O lnterhemispheric: altered consciousness,
• Acceleration-deceleration (coup- headache, hemiparesis
contrecoup injury)
• Physical examination
• cceleration of body ----> sudden stop with O Broken basilar skull: periorbital
forwarding momentum carrying brain ---->
ecchymosis (raccoon eyes).
impacts front of skull ----> backward brain
retroauricular ecchymosis (Battle's sign)
movement----> impacts back of skull ---->
n CSF rhinorrhea/otorrhea
bridging veins tear
• lntracranial hypotension • Acute subdural hematoma
O Neurological presentation in 48-72
0 ! CSF due to lumbar puncture/
lumboperitoneal shunt v- j traction hours
24
O May be comatose/awake
O Sudden, severe headache with nausea,
vomiting; unequal pupils; difficulties in
speech, swallowing; palsies of cranial
nerves
• Subacute
O Presents 2-14 days
• Chronic
O Present 14 days after injury
O Impaired cognitive skills, altered
consciousness, headaches, contralateral/
ipsilateral hemiparesis (depends on
hematoma location), hemianopsia, optic
disc swelling
( D_IA_GN_O_s,_s __ )
DIAGNOSTIC IMAGING
CT scan
Figure 64.5 A CT scan in the axial plane
• Acute: crescent-shape hyperdense blood
demonstrating a large, right-sided, subdural
collection
hematoma. The hematoma has a classical
• Subacute/chronic: isodense/hypodense crescentic shape.
crescentic mass
MRI
• T2-WI (acutely): hypointense blood clot
( T_R_E~_~_M_EN_T__ )
due to deoxyhemoglobin
MEDICATIONS
• Tl, T2-WI (in following weeks): bright
• Diuretics
appearance; deoxy----. methemoglobin
= ! intracranial pressure
• Tl-WI (months later): hypointense clot due
• Vitamin K/factor VIII inhibitor activity
to hemosiderin remains
bypassing agent (FEIBA)/frozen plasma
MR/CT angiography reverse; ! risk of
= Anticoagulation
• Spontaneous SDH hematoma enlargement; individuals
undergoing surgery
SURGERY
• If clot thickness> lOmm, mid line shift>
5mm, intracranial pressure> 20mmHg
= Burr hole, craniotomy, decompressive
craniectomy, blood vessel ligation
OTHER INTERVENTIONS
• Nonsurgical treatment based on Glasgow
coma score (GCS); clot thickness (<
lOmm); neurological examination; stable/
deteriorated condition; comorbidities,
associated injuries; age
25
TRANSIENT ISCHEMIC ATTAC,I(
(TIA)
osms.i"l/-lTC1nsien-l-isehe mie-C1tlC1ek
, If nondominant hemisphere affected

( PATHOLOGY & CAUSES ) • Distal vertebral artery
, Dizziness, difficulty speaking, double
• Short-lasting neurological dysfunction
vision
due to transient focal ischemia, without
infarction • Mid-basilar artery
• Blood vessel occlusion/stenosis ----> ! blood O Dizziness, paresis affecting both legs/
flow in affected region ----> neurological arms
dysfunction
Embolic TIA (> one hour)
• Anterior cerebral circulation
CAUSES O Symptoms depend on blood vessel
• Adults: thrombosis, hypoperfusion, emboli lodged
• Children: congenital heart defects with O Middle cerebral artery: contralateral
thrombosis, coagulopathies, idiopathic hemiplegia; aphasia if dominant
progressive arteriopathy of childhood hemisphere; hemispatial neglect if
(Moyamoya disease) nondominant
O Branches of middle cerebral artery:
RISI( FACTORS numbness/motor function loss; face,
• More common in black individuals of arm, leg
African descent who are biologically male; j O Ophthalmic artery: amaurosis fugax;
risk with age transient monocular/binocular vision loss
• Family history. hypertension, diabetes. • Posterior cerebral circulation
obesity, obstructive sleep apnea, j low- O Dizziness, focal hearing loss. speech
density lipoprotein (LDL). ! high-density difficulties, double vision. hemi/
lipoprotein (HDL). atherosclerosis, cocaine quadrantanopia, face/body numbness
abuse, smoking O Basilar artery: thalamus. subthalamus,
medial midbrain, reticular activating
COMPLICATIONS system ----> stupor/coma
• Recurrent TIA
• lschemic stroke (.____ D_IA_GN_O_s,_s __ )
DIAGNOSTIC IMAGING
CT/MR/conventional catheter angiography
• Duration: few minutes to one hour • Occlusion within blood vessel
! flow in large arteries (few minutes) Diffusion-weighted MRI

• Numbness/paresis • lschemic regions corresponding to
° Face. cheek, tongue. arm. hand, leg neurologic symptomatology
• Aphasia • Changes seen within first few hours of
O If dominant hemisphere affected symptoms
• Hemispatial neglect
26
Perfusion-weighted MRI
• !tissue blood flow
( T_R_E~_~_M_EN_T
)
Neck Doppler ultrasound MEDICATIONS
• Evaluate carotid stenosis • Anti platelet (noncardioembolic TIA)
, Aspirin/extended-release dipyridamole/
aspirin + clopidogrel
LAB RESULTS
• Anticoagulation
• Hypoglycemia, hyponatremia,
= Atrial fibrillation: low-molecular-weight
thrombocytosis: rule out conditions that
heparin
mimic TIA
= Heart thrombus: in acute myocardial
infarction/rheumatic mitral valve;
OTHER DIAGNOSTICS warfarin + direct acting oral
• See mnemonic anticoagulants (e.g. apixaban)
O ABCD2 score: evaluate risk for possible • Diuretics, angiotensin-converting enzyme
ischemic stroke (can occur two days (ACE) inhibitors
after TIA) = Blood pressure control
• Statins
= Cholesterol management
MNEMONIC: ASCO:t
' Evaluating ischemic stroke
risk SURGERY
Age • Same side carotid stenosis/TIA
Blood pressure • Carotid endarterectomy
Clinical features
Duration of symptoms OTHER INTERVENTIONS
Diabetes • Mediterranean diet
27
NOTES
NOTES
•• CEREBRAL CORTEX NERVOUS
SYSTEM INFECTIONS

__ )
• Infection, inflammatory disorders of central DIAGNOSTIC IMAGING
nervous system (CNS), surrounding tissues
Brain CT scan/MRI
• With contrast: bright ring with dark
CAUSES center indicates brain abscess; underlying
• Bacteria (most common), viruses, fungi, sinusitis, thickening of superior ophthalmic
parasites, prions, aberrant immune vein, irregular filling defects indicate
responses, reactions to medications cavernous sinus thrombosis; fluid
collections in epidural space indicate
RISI( FACTORS epidural abscesses
• lmmunocompromised individuals (e.g. HIV, • Focal/diffuse diffusion-restriction, cerebellar
diabetes, chemotherapy, corticosteroid use) atrophy indicates Creutzfeldt-Jakob disease
(CJD)
LAB RESULTS
• Lumbar puncture (if not contraindicated)
• Fever
, Culture, biochemical analysis of fluid
• Headache
• Blood cultures
• Focal neurological symptoms
• Altered level of consciousness
( T_R_E~_~_M_EN_T
__ )
MEDICATIONS
• Empiric antibiotic therapy followed by
targeted therapy once cause identified
• Corticosteroids to manage inflammation/
cerebral edema
28
BRAIN ABSCESS
osms.i"l/\,,-o.in-o.\>seess

• Localized focal necrosis of brain tissue with • Classic triad (20% of cases)
inflammation, usually caused by bacterial n Fever, progressively worsening focal
infection neurology, headache
• Rare (de novo within brain; primary O Increased intracranial pressure (ICP)
infection typically arises elsewhere, spreads while supine ----. worse headache
to brain) early morning, at night/increased ICP
stimulates medullary center, area
Sources of infection
postrema ----. morning vomiting
• Direct implantation
• Mental status change, seizures, nausea,
O Traumatic inoculation (e.g. head trauma vomiting, papilledema
----. skull fracture with broken skin ----.
bacterial contamination)
O Iatrogenic: contamination through ( D_IA_GN_O_SI_S
__ )
invasive procedures
• Local extension from adjacent foci of DIAGNOSTIC IMAGING
infection
MRI/CT scan with contrast
O Ear infection, dental abscess, paranasal
sinusitis, mastoiditis, epidural abscess • Initial immature lesions without capsule:
difficult to distinguish from space-
• Hematogenous spread
occupying lesions/infarcts
O Distant sources of infection (e.g. organ
• 4-5 days after initial infection: formation
infection)
of capsule around necrotic focus ----. ring-
° Congenital heart disease with right-to-
enhancing appearance
left shunt=- loss of pulmonary filtration
• Intravenous contrast material cannot
of microorganisms ----. abscesses in
pass through capsule----. accumulation
distribution of middle cerebral artery
around lesion ----. bright ring with dark
• Common causative bacterial organisms
center
(abscesses often polymicrobial)
O Staphylococcus aureus, Streptococcus,
Bacteroides, Enterobacteriaceae, LAB RESULTS
Pseudomonas • Lumbar puncture
• lmmunocompromised hosts may develop • If intracranial pressure not significantly
viral/fungal abscesses, commonly raised
caused by poliovirus, Toxoplasma gondii, O j white cell count, j protein
Cryptococcus neoformans concentration, normal glucose content
• Abscess aspirate
RISI( FACTORS • Sample obtained via imaging-guided
• Right-to-left cardiac shunts, bronchiectasis, aspirate/during surgical drainage;
immunosuppression culture of causative organism ----. specific
treatment
COMPLICATIONS
• lschemia/necrosis of pituitarv -» pituitary
insufficiency----. Addisonian crisis
29
(..__ __ T_R_E~_~_M_EN_T
)
MEDICATIONS
• Targeted antibiotic therapy
O Penetration through abscess wall
poor, typically accompanies surgical
management
• Hyperbaric oxygen therapy
O Reduces intracranial pressure,
bacteriostatic. enhances oxidative
immune function
• Corticosteroids in complicated cases with
pituitary insufficiency
SURGERY Figure 65.1 A CT scan of the head in the

• Drainage axial plane demonstrating a abscess in the
left frontal lobe. This example developed five
• Removal of any foreign material
weeks following a repair of a depressed skull
fracture.
CAVERNOUS SINUS THROMBOSIS

osmsJl/eo.veTnous-sinus--lhTom \>osis
RISI( FACTORS
( PATHOLOGY & CAUSES ) • lmmunosuppression (e.g. uncontrolled
diabetes, corticosteroid use, cancer,
Cavernous sinuses ch e moth era py)
• Irregularly shaped, trabeculated. blood filled • Thrombophilia
cavities, acts as venous channel between
• Obesity
endosteum, dura mater at base of skull
• Severe dehydration
• Numerous important structures pass
through cavernous sinuses
O Internal carotid artery COMPLIC ATIONS
° Cranial nerves Ill. IV. V (branches Vl. • Dural venous, cavernous system valveless
V2),VI ----. communication with dural sinuses,
• Drain into internal jugular vein cerebral. emissary veins e- meningitis, dural
empyema, brain abscess
Infection • Spread via jugular vein to pulmonary
• Infection ----. formation of blood clot within vasculature ----. septic emboli, pulmonary
cavernous sinus abscesses, pneumonia
• Infection often arises via contiguous spread • Carotid artery narrowing ----. stroke
from nearby infection (e.g. nasal furuncle, • lschemia/direct infectious spread ----.
sphenoidal/ethmoidal sinusitis/dental hypopituitarism
infection)
° Commonly associated organisms:
Staphylococcus aureus, Streptococcus
30
MRI
) • Tl, T2: absent flow void, abnormal signal
characteristics of affect cavernous sinus
• Local compression, inflammation of cranial
• Contrast venogram: deformity of internal
nerves (Ill-VI)---'> several partial/complete
carotid artery in cavernous sinus, signal
cranial neuropathies
hyperintensity in thrombosed vascular
O Diplopia, limited eye abduction, non-
sinuses
reactive pupil, numbness/paresthesia
around eyes, nose, forehead, facial pain
• Decreased drainage from facial vein, ( T_R_E_AT_M_E_N_T __ )
superior, inferior ophthalmic veins ---'>
periorbital edema, chemosis (conjunctiva! MEDICATIONS
swelling), proptosis, headache
• Broad spectrum empiric antibiotic therapy
until primary agent, source identified
( D_IA_GN_O_SI_S
)
SURGERY
DIAGNOSTIC IMAGING • Sinus drainage (e.g. drainage,
sphenoidotomy if primary infection arises
CT scan from sphenoidal sinuses)
• Non-contrast: high-density thrombus in
cavernous sinus
• With contrast: underlying sinusitis,
thickening of superior ophthalmic vein,
irregular filling defects in cavernous sinus
CREUTZFELDT -J"Al(08 DISEASE

osms.i"l/ eTeu-l2f elcH:-J'o.ko\,-diseo.se
---'> holes form where nerves died ---'>
( PATHOLOGY & CAUSES ) sponge-like appearance on microscopy
• Universally fatal prionopathy; spongiform

encephelopathy -e rapidly progressive TYPES
dementia • Sporadic (sCJD)
• Native prions play role in long-term • Majority (> 85%) of cases occur
memory, neuronal repair spontaneously
• Infectious prions composed entirely of • Familial (fCJD)
protein, folded in structurally abstract = Minority(<
10%) transferred via
conformations; able to pass on "misfolded" autosomal dominant inheritance
conformation • Variant (vCJD)
O Infectious prions propagate by inducing O Bovine-to-human transmission of
misfolding of native host prion proteins bovine spongiform encephalopathy
---'> formation of new infectious prions
• Iatrogenic (iCJD)
O Malformed prion proteins extremely
• Exposure to brain/spinal tissue from
stable (resistant to denaturation by infected individual (e.g. cadaveric human
enzymes) ---'> accumulation in infected
pituitary hormone)
neuronal tissue e- formation of amyloid
sheets=- eventual tissue damage, death
31
RISI( FACTORS
• Exposure to harvested human brain
( T_R_E~_~_M_EN_T
)
products (e.g. corneal grafts, dural grafts,
human growth hormone), ingestion of
MEDICATIONS
infected bovine products, cannibalism • Sedatives/antidepressants/antipsychotics
, Palliative, relief of psychiatric symptoms
• Benzodiazepines/antiepileptics
COMPLICATIONS
, Palliative, relief of movement disorders
• Progressive neurodegeneration -
(e.g. myoclonic jerks)
dysphagia - aspiration pneumonia
common
• Rapidly progressive dementia: memory
loss, personality change, hallucinations
• Movement disorders: myoclonus, ataxia,
rigid posture
• Psychiatric: anxiety, depression. psychosis
( D_IA_GN_o_s,_s __ )
DIAGNOSTIC IMAGING Figure 65.2 A section of the brain
demonstrating a prion plaque. This individual
MRI displayed the symptoms of variant CJD.
• Diffusion-weighted MRI
° Focal/diffuse diffusion-restriction
involving cerebral cortex/basal ganglia
• Fluid-attenuated inversion recovery
(FLAI R)/T2-weig hted
O Hyperintense signal changes in basal
ganglia, thalamus, cortex
• Cerebellar atrophy
LAB RESULTS
• Cerebrospinal fluid (CSF)
O Elevated concentration of 14-3-3
protein
• Tissue biopsy
O Prion deposits in brain (definitive
diagnosis) skeletal muscle, tonsils.
spleen; classical histological appearance
- spongiform change in gray matter
OTHER DIAGNOSTICS
• Electroencephalography (EEG)
O Generalized periodic sharp wave pattern
32
ENCEPHALITIS
osmsJl/ eneepho.li-1:is
( PATHOLOGY & CAUSES ) (~~SI_G_NS_&~SY_M_P_TO_M_s_)

• Acute inflammatory brain disease due • Fever, chills, malaise
to direct invasion/pathogen-initiated • Meningeal involvement=-. meningism
immune response----. inflammation of brain n Nuchal rigidity (inability to flex neck
parenchyma (often with meningitis) forward passively due to increased
O Peripheral nerves conduits to brain muscle tone, stiffness), headache,
parenchyma for viral infection-rabies, photosensitivity
herpes simplex virus (HSV) • Parenchymal involvement=-s focal
O Hematogenous spread ----. transfer of neurological signs, seizures, altered mental
infections from distant sites state
CAUSES
• Viral (most common): HSV-1 (most
(...____ D_IA_GN_O_s,_s
__ )
common), arbovirus (e.g. West Nile virus),
enterovirus (e.g. Polio), varicella zoster
DIAGNOSTIC IMAGING
virus (VSV), Epstein Barr virus (EBV), HIV, Brain CT scan (with/without contrast)
influenza • Complete prior to lumbar puncture to
• Bacterial: Listeria monocytogenes, exclude significantly increased ICP,
mycobacteria, spirochetes (e.g. syphilis) obstructive hydrocephalus, mass effect
• Parasites: protozoa (e.g. Toxoplasma),
malaria Brain MRI
• Fungi: cryptococcus • Increased T2 signal intensity in
frontotemporal region ----. viral (HSV)
• Non-infectious, autoimmune: acute
encephalitis
disseminated encephalomyelitis, anti-N-
methyl-D-aspartate (NMDA) receptor
encephalitis, T-cell lymphoma LAB RESULTS
Blood tests
RISI( FACTORS
• Blood, CSF cultures
• lmmunosuppression O Bacterial pathogens
• Travel to low-income nations
• Blood glucose
• Exposure to disease vectors in endemic
° Comparison with CSF glucose; exclude
areas
confusion due to hypoglycemia
• Toxoplasma serology
COMPLICATIONS
• Seizures, syndrome of inappropriate CSF
secretion of antidiuretic hormone (SIADH), • CSF chemistry
increased ICP, coma O Lymphocytosis (> 5WBC/ml) with
normal glucose----. viral encephalitis
• CSF polymerase chain reaction (PCR)
O Diagnosis of specific viral cause
• Specific antibody testing for EBV, arbovirus
33
Tissue analysis
• Tzanck smear (from base) of suspicious skin
lesions ----> identify presence of VZV/HSV
• Brain biopsy (definitive diagnosis)
° Cowdry type A inclusions (HSV, VZV,
CMV)
O Hemorrhagic necrosis in temporal,
orbitofrontal lobes (HSV)
OTHER DIAGNOSTICS
• EEG
O Temporal lobe discharges----> viral (HSV)
encephalitis
(.____ T_R_E~_~_M_EN_T__ )
Figure 65.3 An MRI scan of the head
MEDICATIONS demonstrating increased signal in the left
• Viral encephalitis temporal lobe. HSV encephalitis was later
confirmed by PCR of the cerebrospinal fluid.
O HSV encephalitis: acyclovir
° CMV encephalitis: ganciclovir/foscarnet
O Most viral infections lack specific
antiviral agent
• Bacterial encephalitis
O Targeted antibiotics

34
EPIDURAL ABSCESS
osms.tl/ epiduTo.1-o.\>seess
• Loose association between dura, vertebral
( PATHOLOGY & CAUSES ) bodies - extension of spinal epidural
abscess to multiple spinal levels -
• Collection of pus, infectious material in extensive neurological findings
epidural space of CNS
• Typically caused by Staphylococcus aureus,
enteric gram-negative bacilli (e.g. E. coli),
TYPES coagulase-negative Staphylococci reaching
dural space
lntracranial epidural abscess n Direct extension of local infection;
• Dura mater (tough outermost layer of vertebral osteomyelitis, psoas abscess,
meninges) directly in contact with skull soft-tissue infection
• Puss, granulation tissue accumulate • Hematogenous seeding from distant
between dura mater, cranial bone infection
• Dura adheres tightly to skull - limits • Iatrogenic spread due to invasive
expansion - dangerously increases ICP procedures
• Typically caused by Staphylococci/ • Risk factors: old age, invasive spinal
Streptococci reaching dural space procedures, immunocompromised states,
O Direct extension from local infection (e.g. intravenous drug use, most common in
ear/paranasal sinuses) - osteomyelitis thoracolumbar area (epidural space larger,
- abscess formation contains more fat tissue)
O Hematogenous seeding from distant • Complications: recurrent sepsis, spinal cord
infection injury - bladder dysfunction
O Iatrogenic spread due to invasive
procedures
• Risk factors: prior craniotomy, head injury, (__ s,_G_NS_&_S_Y_M_PT_O_M_s_)
sinusitis, otitis media, mastoiditis
• Fever, malaise
• Complications: seizures, increased ICP -
uncal/tonsillar herniation, hemorrhage into • Cranial epidural abscess
abscess, septic shock O Pain/tenderness over abscess site, pus
draining from ear/sinuses, neck stiffness,
Spinal epidural abscess headache, nausea, vomiting
• Spinal epidural space • Spinal epidural abscess (staging follows
O Outermost space within spinal canal clinical progression)
(formed by vertebrae, lying outside dura O Back pain, tenderness, fever
mater) O Radicular pain, reflex abnormalities
° Contains lymphatics, spinal nerve roots, O Sensory abnormalities, motor weakness,
connective tissue, fat, vasculature loss of bowel/bladder control
• Collection of pus/inflammatory granulation O
Paralysis (progresses to irreversible
tissue between dura mater, vertebral paralysis without rapid surgical
column - spinal epidural abscess - intervention)
physical compression, inflammation of
surrounding tissues, spinal cord - local
ischemia
35
(..__ __ D_IA_GN_O_SI_S )
DIAGNOSTIC IMAGING
CT scan with contrast
• Fluid collections in epidural space
MRI with contrast

• Homogeneous enhancement of abnormal
area, liquid abscess surrounded by
inflammatory tissue showing varying
degrees of peripheral enhancement
X-ray
• Osteomyelitis, vertebral collapse
LAB RESULTS
• Blood cultures
O May culture causative organism
• Lumbar puncture contraindicated
O Risk of spreading infection to
subarachnoid space
• CT-guided aspirates/surgically-obtained
fluid
° Culture causative organism Figure 65.5 A histological section of the
( T_R_E~_~_M_EN_T
)
MEDICATIONS
• Initial empirical antibiotic therapy, broad-
spectrum coverage for gram-positive,
gram-negative organisms
O Vancomycin (Gram-positive coverage),
third-generation cephalosporins (Gram-
positive, Gram-negative)
• Targeted antibiotics specific to isolated
organisms
SURGERY
• lntracranial
° Craniotomy - removal of infected bone,
surgical decompression
• Spinal
O Decompressive laminectomy (CT-
guided drainage)
36
MENINGITIS
osmsJI:/ meningi-1:is

• Inflammation of meninges surrounding
brain, spinal cord
CAUSES
Bacteria, viruses, fungi, parasites, non-
infectious causes
• Non-infectious: e.g. medications,
autoimmune disease, malignancy
• "Aseptic meningitis"
Figure 65.6 A sample of cerebrospinal
O Don't culture on typical bacterial media
fluid taken from an individual with bacterial
(e.g. viruses, fungi, parasites, non-
meningitis.
infectious causes)
• Acute illness
O Onset: hours, days Microbial spread to CNS
O Likely viral/bacterial causes • Hematogenous spread (from distant site of
• Chronic meningitis infection)
O Onset: weeks, months • Retrograde transport along cranial/
O Likely mycobacteria, fungi, Lyme peripheral nerves (viral illness)
disease, parasitic causes • Contiguous spread from local infections of
• Pyogenic meningitis sinuses, ears, overlying bone
O Most likely bug by age group = Infectiousagents colonize nasopharynx/
O Mnemonic: Explaining Big Hot Neck respiratory tract
Stiffness (in order from birth to death) = Preceding viral infection - breakdown
of normal nasal mucosa I barrier -
colonizing bacteria enter bloodstream -
\ MNEMONIC: Explo.inin9 Sig seeding of subarachnoid space in areas
Hot Neck Stiffness where blood-brain barrier vulnerable
(e.g. choroid plexus)
Causative microorganisms in
meningitis by age group • Traumatic inoculation
E. coli, Group B streptococcus Other sources of inflammation
(infants)
• Significant inflammation not directly due to
Haemophilus influenzae (older bacterial action
infants, kids)
• Presence of bacterial antigens (e.g. cell
Neisseria meningitidis (young wall products) in CNS - recognition by
adults) astrocytes, microglia - cytokine release -
Streptococcus pneumoniae inflammation
(elderly) • Inflammation - increased blood-brain
barrier permeability - vasogenic cerebral
edema
37
0 - 4 weeks
l. monocytogenes, Klebsiella

1 - 23 months S. pneumoniae, N. meningitidis,
H. influenza
S. pncumoniae, N. moningitidis,
Children, adults
H. influenzae
Elderly >50 S. pneumoniae. N. meningitidis. L. monocytogenes
HSV-1, -2, VIV,Enteroviruses, Parechoviruses, West Nile virus
Cryptococcus, Coccidioides
Lyme disease, Neurosyphilis, TB
• Extravasation of white blood cells, plasma COMPLICATIONS

into CSF ...... interstitial edema • Cerebral edema, cerebral herniation,
• Immune cell activity (e.g. further cytokine deafness, epilepsy, hydrocephalus,
release, oxidative burst) ---> inflammation of cognitive deficits
walls of blood vessels=- cerebral vasculitis
---> decreased blood flow ---> cytotoxic
edema (__ s,_G_NS_&_S_Y_M_PT_O_M_
• Collectively edema subtypes ---> raised
intracranial pressure • Neonates, children
• Administration of antibiotics ...... greater ° Fever, lethargy, irritability, vomiting, poor
amounts of bacterial antigens (from feeding
dead bacteria) enter CSF---> worsening • Adults
inflammation (initially) n Classic triad (< 50% of cases): sudden
onset headache, fever, nuchal rigidity

RISI( FACTORS O Photophobia, phonophobia (discomfort
• lmmunocompromised individuals, with loud sounds), confusion, vomiting,
unvaccinated individuals (S. pneumoniae, papilledema
H. influenzae Type B) O Brudzinski's sign: passive neck flexion
• Penetrating head trauma ---> pain, involuntary flexion of hips,
knees
• Anatomical meningeal defects (CSF leaks)
° Kernig's sign: resistance to knee
• Contact with colonized/infected individuals
extension when hip flexed to 90°
38
O Jolt accentuation of headache:
headache worsens if individual asked to ( D_IA_GN_O_SI_S
__ )
"jolt" head from side to side in horizontal
plane LAB RESULTS
• Meningococcal meningitis • Lumbar puncture
O Petechial rash; non-blanching , Gram stain; bacterial culture,
when pressure applied; trunk, lower susceptibility; WBC count, differential;
extremities RBC count; glucose, protein
concentration
= Acid-fast bacilli stain in TB endemic
areas/if suspected exposure
= HSV/enterovirus PCR
Cloudy Clear Clear/cloudy Opaque Clear
Normal Normal
50-500
500-10.000 10-100 10-500 100-200
(Neutrophils,
(Neutrophils) (Lymphocytes) (Mononuclear) (Lymphocytes)
monocytes)
! Normal ! !
> 150 > 1000 > 100 50-200
Acid-fast
Gram stain, India ink India ink
PCR assay bacillus stain,
culture stain stain
PCR
• Preemptive treatment to any close

( T_R_E~_~_M_EN_T
__ ) contacts of individuals with meningococcal
meningitis is a single dose of ceftriaxone/
MEDICATIONS rifampin
Prevention Acute bacterial meningitis
• Immunization with meningococcal, mumps, • Empiric antibiotic therapy based on age
pneumococcal, Hib vaccines O If immediate lumbar puncture
performed. obtain sample prior to
antibiotics
39
0 < one week: penicillin (e.g. ampicillin)
+ third-generation cephalosporin (e.g.
cefotaxime)/aminoglycoside
0 1 week-3 months: third-generation
cephalosporin + vancomycin
0 > three months: vancomycin
O Targeted antibiotic therapy
° Corticosteroids: inflammation, cerebral
edema (dexamethasone)
Aseptic meningitis
• HSV, VZV meningitis: acyclovir
• Fungal meningitis (cryptococcal
meningitis): amphotericin B, flucytosine
Figure 65.7 The brain of an individual at post

mortem following death from meningitis.
Removal of the dura mater reveals pus
surrounding the brain.
Figure 65.8 Post mortem histology of the brain and meninges of an individual who died from
acute bacterial meningitis. The zoomed in area demonstrates numerous neutrophils infiltrating
the meninges.
40
NOTES

( PATHOLOGY & CAUSES ) (__ s,_G_NS_&_SY_M_PT_O_M_s_)
• Disorders affecting normative central • Developmental milestones
nervous system (CNS) development/ O Not met
function • Motor dysfunction
• Varying severity, intensity O Ataxia, paresis, unsteady gait, speech
impairment, poor coordination
CAUSES • Dysautonomia
• Primary • Intellectual disability
O Genetic mutation/idiopathic O Learning/memory issues
• Secondary • Dementia
O E.g. trauma, infection, neoplasm,
environmental factors
( D_IA_GN_o_s,_s __ )
RISI( FACTORS DIAGNOSTIC IMAGING
• Cerebral ischemia, delivery trauma, • CT scan, MRI
premature birth, teratogenic substance
exposure (prenatal)
• Supportive structure (bone, connective OTHER DIAGNOSTICS
tissue) malformation ----> physically obstructs • Neurological exam
CNS development
( T_R_E~_~_M_EN_T__ )
• Mostly supportive
SURGERY
• In some cases; see individual disorders
41
ARNOLD-CHIARIMALFORMATION
osms.i"l/ o.Tnold-ehio.Ti-mo.lfoTmo.-lion

)
• Insufficient posterior fossa growth - • Nausea, vertigo, nystagmus, unsteady gait
developmental cerebellum, brainstem, • Lumbosacral/thoracic myelomeningocele
craniocervical junction malformation presence
• Affects cerebellar structure, position • Medulla oblongata compression -
• AKA Chiari malformation type II (types I, 111, dysautonomia (! j heart/breathing rate,
IV-no specific name) neurogenic bladder, sleep apnea, pupillary
• Chiari malformations: similar presentations, dilation, etc.)
different mechanism development • Paralysis/dysesthesia below spinal
• Accompanying findings: aqueductal compression
stenosis, upward cerebellar displacement, • Valsalva maneuver - symptoms worsen
cerebellar dysplasia (increased intracranial pressure)
• Cerebellar tonsil protrusion through
foramen magnum
• Associations: lumbosacral (..____ D_IA_GN_O_SI_S
)
myelomeningocele, Pierre Robin syndrome,
neurofibromatosis type I, Noonan syndrome DIAGNOSTIC IMAGING
• Commonly accompanies spina bifida CT scan, MRI
• Findings include presence of
RISI( FACTORS myelomeningocele, cerebellar tissue
• Hydrocephalus (congenital/acquired) (downward displacement) through foramen
magnum, small fourth ventricle, tectal
• Ehlers-Danlos syndrome, Marfan syndrome
beaking, atlas assimilation
- craniocervical joint instability -
cerebellar tonsil displacement
• Posterior cranial fossa malformation OTHER DIAGNOSTICS
(agenesia, craniosynostosis, osteopetrosis) • Neurological exam
• Posterior cranial fossa pathology (tumor,
abscess, cyst, hematoma)
( T_R_E~_~_M_EN_T
)
COMPLICATIONS SURGERY
• Aqueductal stenosis - impaired CSF flow
• Open neural tube defect closure
- non-communicating hydrocephalus -
lateral, third ventricle dilatation • Shunt placement (relieves hydrocephalus)
• Fourth ventricle obstruction - non- • Bone removal (! brain structure pressure)

communicating hydrocephalus - aqueduct
dilatation; lateral, third ventricles OTHER INTERVENTIONS
• Brainstem, spinal cord compression • Address complications: neurogenic
• Syringomyelia (hydrocephalus - bowel, bladder; neonatal feeding difficulty;
distention, dilation of spinal cord's central respiratory failure, apnea
canal)
42
the sagittal plane of an individual with an
Arnold-Chiari malformation. There is a small
posterior fossa and partial descent of the
brainstem and the cerebellar tonsils through
the fora men magnum.
CEREBRAL PALSY (CP)

osmsJl/ eel9e bl90.l-po.ls14
CAUSES
( PATHOLOGY & CAUSES ) • Primary: genetic (autosomal recessive
glutamate decarboxylase-1 deficiency)
• Wide disorder group; non-progressive
• Secondary: preterm birth (most common
cerebral lesions impair motor, postural
cause), CNS injury, intrauterine growth
function/muscle tone
restriction, intrauterine infection,
• Most common motor disorder, 2.1 per 1000 antepartum hemorrhage, severe placental
babies affected, ages 0-3 years
pathology, multiple pregnancy
• Varying severity, complexity
• Often accompanied by mental function
impairment, epilepsy
RISI( FACTORS
• Prenatal/perinatal
° CNS trauma (pregnancy/birth)
\ MNEMONIC: PALSY = Cerebrovascular insult (infarction,
Main characterist
cs of CP thrombosis, hypoxic-ischemic injury)
Paresis = CNS infection
Ataxia
O Radiation exposure
Lagging motor development
O Methylmercury/alcohol (prenatal
exposure)
Spasticity
= Maternal smoking/obesity
Young
O Infections during pregnancy
43
• Postnatal
O Stroke, CNS trauma, hypoxia (drowning), (..___s,_G_NS_&_SY_M_P_TO_M_
)
sepsis/meningitis, kernicterus
• Motor symptoms (type-dependent)
O Paresis, ataxia, spasticity, irregular
posture, orthopedic contracture,
scoliosis, seizure, neurogenic bladder/
bowel, impaired vision/speech, difficulty
feeding/swallowing
poor movement dystonia, Mixed

spasticity
coordination chorea
Upper motor neuron Cerebellum Basal ganglia Mixed
( D_IA_GN_o_s,_s ) ( T_R_EA_:t"_M_EN_T )
CT scan, MRI
• Type-dependent MEDICATIONS
O Hypoxic-ischemic lesions (e.g. • Benzodiazepines - myorelaxation, anxiety
relief
periventricular leukomalacia/basal
ganglia lesions); cortical malformation; • Spasmolytics - muscle-spasticity relief
hydrocephalus • Anticonvulsants - seizure treatment,
prevention
Ultrasound
• Pain medication
• In young infants with open anterior
fontanelle
SURGERY
• Posture correction
OTHER DIAGNOSTICS
• Diagnostic tests
OTHER INTERVENTIONS
O Differentiate
• Physical, occupational, speech therapy
from other motor
dysfunction disorders (e.g metabolic • Posture correction
disorders, stroke, hydrocephalus, , Braces/other orthotic devices
hematomas)
44
DANDY-WAL~ERSYNDROME
(DWS)
osmsJl/ do.nd14-Wo.llcer-mo.lformo.-lion
CAUSES
( PATHOLOGY & CAUSES ) • Genetic, environmental factors
O Meckel syndrome
• Neurodevelopmental disorders; affect
cerebellar vermis, fourth ventricle ° Chromosomal aneuploidy (e.g. 45X,
triploidy)
• Classical triad
O Rubella infection/warfarin exposure
O Vermis hypoplasia/agenesis, cystic
during pregnancy
dilatation (fourth ventricle), posterior
fossa enlargement
O Maternal alcohol consumption
• Accompanying disorders (wide range) ° Congenital heart defect
° Cortical dysplasia, syringomyelia,
O Neural tube defect
schizencephaly, corpus callosum O Holoprosencephaly
dysgenesis, cleft palate, etc.
• Associated with posterior fossa COMPLICATIONS
malformations-hemangiomas-
• Foramina (Magendie, Luschka) atresia -
arterial anomalies-cardiac defects- hydrocephalus
eye abnormalities-sternal cleft and
supraumbilical raphe syndrome (PHACES)
MNEMONIC: OWS • Macrocephaly, developmental milestones
Componentsof DWS not met (mental, motor), impaired motor
Dilated 4th ventricle coordination, unsteady gait, seizure, lower
Water on the brain limb spasticity, eye/ear involvement (rarely)
Small vermis
CLASSIFICATIONOF
DANDV-WALICER MALFORMATION
PATHOLOGY
Posterior fossa enlargement. elevated tentorium, vermis agenesis,

cystic dilatation (fourth ventricle)
MALFORMATION
Often accompanied by spina bifida, hydrocephalus
VARIANT Hypoplastic vermis, posterior fossa enlargement, fourth ventricle dilated
MEGA CISTERNIA Posterior fossa enlargement, cisterna magna enlargement, hypoplastic vermis
fourth ventricle dilated
MAGNA
45
(..__ __ D_IA_GN_O_SI_S ) (..__ __ T_R_E~_~_M_EN_T
)
MRI, prenatal ultrasound

• Characteristic findings SURGERY
° Cerebellar vermis agenesis/hypoplasia, Ventricular-peritoneal shunt
cystic dilatation (fourth ventricle), • Manages hydrocephalus
posterior fossa enlargement;
hydrocephalus, absent corpus callosum
may also be present OTHER INTERVENTIONS
• Physical, occupational therapy
LAB RESULTS
• Amniocentesis

sagittal plane demonstrating a Dandy-Walker
malformation in a one-year-old boy. There is
accompanying gross hydrocephalus.
46
NORMAL PRESSURE
HYDROCEPHALUS(NPH)
osms.i"l/noTmo.1- TessuTe-h14dToee helus
OTHER DIAGNOSTICS
( PATHOLOGY & CAUSES ) • High-volume lumbar puncture/lumbar drain
trial
• Cerebrospinal fluid (CSF) accumulatlon=-.
= Improved functionality with CSF removal
progressive lateral ventricle enlargement
• AKA Hakim's syndrome
• lntracranial pressure (ICP) not normal
(name is misnomer)
( T_R_E~_~_M_EN_T )
CAUSES SURGERY
• Slight-moderate elevation ----. classical t ICP • In some situations
symptoms (nausea, vomiting, photophobia,
neck pain, stiffness) not evident Ventriculoperitoneal shunt
• j CSF ----. j ICP ----. lateral ventricle dilation • l ICP relief

----. pressure on corona radiata
O Urinary incontinence), brainstem
structure (magnetic gait), periventricular
limbic system (dementia)
• ldiopathidsecondary
Cerebrovascular insult, meningitis,
°
trauma. tumor
RISI( FACTORS
• Prevalence largest among elderly (common
onset approx. 60 years old)
• Unsteady gait
O Described as magnetic or "glue-footed"
• Urinary incontinence
• Cognitive impairment
sagittal plane demonstrating hydrocephalus.
There is a prominent flow void in the sylvian
aqueduct, suggesting a normal-pressure
( D_IA_GN_o_s,_s __ ) hydrocephalus.
DIAGNOSTIC IMAGING
MRI/CT scan
• Ventriculomegaly, enlarged Sylvian fissures,
enlarged sulci with no cortical atrophy
47
RETT SYNDROME
osms.i"l/ Te-H-s14ndTome
RISI( FACTORS
(__ P_AT_H_O_l_OG_Y_&_C_A_U_S_Es
) • Young, individuals who are biologically
female
• Rare neurological disorder, impairs motor
• Extraordinarily, individuals who are
function (eating, walking, talking, breathing)
biologically male with Klinefelter syndrome
• AKA cerebroatrophic hyperammonemia (XXY), otherwise fatal for biologically-male
• Associated with prolonged QT syndrome (XY) individuals
CAUSES COMPLI CATIONS

• X-linked autosomal dominant MeCP2 gene • Growth failure
mutation (spontaneous) • Seizure
• MeCP2 protein involved in forming • Fractures (related to! bone mineralization)
neuronal connections, when only one gene
• Cardiac abnormalities; e.g. prolonged QTc
is mutated, the other one can compensate
interval
to a degree
• Sleep disturbances
• Behavioral issues; e.g. clapping, "pill-rolling"
(due to extrapyramidal motor defects)
CLASSIFICATIONOF RETT SYNDROME

AGE SYMPTOMS
EARLY ONSET 6-18 months Decreased playfulness. eye contact reduced/absent

(STAGEI)
RAPID repetitive hand movement (dapping/clasping),
DETERIORATION 1-4 years
(STAGE II) acquired microcephaly
PLATEAU
(PSEUDO- 2-10 years t attention span, eye contact, seizures, apraxia
STATIONARY)
(STAGE Ill)
LATE MOTOR Progressive muscle weakness, rigidity, spasticity, scoliosis.

DETERIORATION 10 years-life
cognitive stability
(STAGEIV)
48
) ( T_R_EA_~_M_EN_T
)
• Manifests after six months old - later, • No definitive treatment
divided into four stages
MEDICATIONS
( D_IA_GN_O_SI_S) • SSRI (behavioral issues)
LAB RESULTS OTHER INTERVENTIONS

• Genetic test • Occupational, speech, physical therapy
o MeCP2 mutation • Nutritional support for fracture reduction
OTHER DIAGNOSTICS
• Clinically diagnosed (characteristic findings)
O Loss of acquired purposeful hand skills,
spoken language
O Gait abnormalities
O Stereotypic hand movements
SEPTO-OPTICDYSPLASIA (SOD)
osms.i"l/ se -lo-o -lie-cJ.14s le1sie1
( PATHOLOGY & CAUSES ) (__ s,_G_Ns_&

__sv_M_PT_O_M_s_)
• Congenital malformation triad • Nystagmus
O Underdeveloped optic nerve, • Visual impairment
hypopituitarism, absent septum • Intellectual impairment
pellucidum • Seizure
• AKA de Morsier syndrome • Growth hormone deficiency - short
• Most individuals have two of three stature, hypoglycemia, micropenis (if
components. some present with all three biologically-male)
• May also have encephalomalacia, • Vasopressin deficiency - diabetes
schizencephaly, ectopic pituitary tissue insipid us
• Hyperprolactinemia
CAUSES • Hyperbilirubinemia - jaundice
• Genetic
O Spontaneous/inherited HESX1. OTX2,
SOX2. PAX6 mutation ( D_IA_GN_o_s,_s __ )
• In utero sodium valproate, cocaine exposure
DIAGNOSTIC IMAGING
MRI
• Optic nerve hypoplasia, septum pellucidum,
corpus callosum agenesis
49
LAB RESULTS
Genetic testing
• HESXl, OTX2, SOX2, PAX6 mutations
OTHER DIAGNOSTICS
( T_R_EA_~_M_EN_T__ )
MEDICATIONS
• Hormone replacement therapy
• Anticonvulsants c- seizure treatment,
prevention
OTHER INTERVENTIONS Figure 66.4 An MRI scan of the head in the

coronal plane of an individual with septo-
• Treat complications
optic dysplasia. The septum pellucidum,
O Ophthalmic, physical, and occupational
which normally separates the two lateral
therapy
ventricles, is absent.
SPINA BIFIDA
osmsJl:/ spino.-\>ifido.
( PATHOLOGY & CAUSES ) RISI( FACTORS

• Multifactorial
• Congenital spinal column, meninges , Genetic, environmental factors
malformation
• Pregnancy
• Most common neural tube defect
, Folate deficiency, anticonvulsant use
• Improper vertebrae formation allows
• Obesity
meninges/spinal cord to protrude dorsally
• Poorly-managed diabetes mellitus
out of spinal canal
• Occurs in fourth week of pregnancy
• Usually manifests in lumbar part of spinal COMPLIC ATIONS
column (can occur elsewhere) • Meningitis; neurogenic bladder, bowel;
• Most individuals with spina bifida have nerve damage paralysis; tethered cord
latex allergy (complicates medical syndrome; cognitive impairment; pressure
procedures) ulcer; seizure; hydrocephalus; orthopedic
problems
• Some individuals with spina bifida have
intellectual impairment
• Can present with Arnold-Chiari
malformation
(__ SI_G_NS_&_S_Y_M_PT_O_M_
• Associated with malformed corpus • Lower-back pain, hip dysplasia, dysesthesia
callosum, cerebellum, cerebral cortex (below lesion), leg weakness, nystagmus,
clubfoot, scoliosis
50
The meninges. spinal cord Meninges herniate through opening.
do not protrude lining entire malformation and forming
from spinal canal a CSF-filled sac

repetitive hand movement
MENINGOCELE 1-4 years (clapping/clasping),
acquired microcephaly
Improper vertebrae formation,
2-10 years
Meninges, spinal cord herniate
through opening
MYELOCELE Improper vertebrae formation,

(AKA OPEN SPINA 10 years-life
BIFIDA) Spinal cord completely exposed
OTHER INTERVENTIONS
( D_IA_GN_O_SI_S
__ ) • Resolve complications
= Seizure, hydrocephalus, orthopedic
DIAGNOSTIC IMAGING
problems
Prenatal ultrasound • Physical therapy
X-ray, CT scan, MRI

• Show improper vertebral formation
LAB RESULTS
• i alpha-fetoprotein
O Spina bifida occulta does not show j
• Genetic tests
OTHER DIAGNOSTICS
• Visual examination
O Visible meningocele, myelomeningocele
at birth
C T_R_E~_~_M_EN_T
__ )
SURGERY Figure 66.5 An individual with spina bifida
• Reposition meninges, spinal cord into spinal and a an associated myelomeningocoele, also
canal known as spina bifida cystica.
51
SYRINGOMYELIA
osms.i"l/ s14 Tingom14elie1

)
• Cerebrospinal fluid-filled cyst around spinal SURGERY
cord's central canal • Cyst drainage; flow restoration
• Cyst in nerve tissue (syrinx); spinal cord
(myelia)
O E.g. brainstem syrinx (syringobulbia)
• As cyst forms, grows - fluid collects within
spinal cord tissue - I pressure within
spinal cord - damage
• Symptoms progress slowly, often adult
diagnosis
RISI( FACTORS
• Congenital: Arnold-Chiari malformation,
genetic mutation
• Acquired: trauma; spinal cord tumor,
bleeding; scoliosis
)
• Various locations, syringomyelia severity
• Chronic pain, dysesthesia, paresis/paralysis Figure 66.6 An MRI scan of the head and
neck in the sagittal plane demonstrating
• Suspended sensory level
O Sensory
syringomyelia extending from approximately
perception defect only on body
the level of C4 to T3. There is also a Chiari I
parts innervated by syringomyelia-
malformation.
affected structures
( D_IA_GN_O_SI_S
)
DIAGNOSTIC IMAGING
MRI
• Syrinx visualization in spine
OTHER DIAGNOSTICS
Neurological exam
• For suspended sensory level
52
TETHERED SPINAL CORD
SYNDROME (TCS)
osmsJl/-le-lhel9ed-spino.l-eol9d-s14nd l9ome

• Pathological spinal cord fixation to spinal
canal wall
• AKA occult spinal dysraphism sequence
• Spinal cord movement restricted
, Normally, spinal cord floats freely in CSF
, TCS: restricted movement - physical
strain - spinal cord damage
CAUSES
• Primary: congenital short filum terminale
• Secondary: surgery/trauma - scar tissue
attachment; (myelo)meningocele
( SIGNS & SYMPTOMS ) Figure 66.7 An MRI scan of the spine in

the sagittal plane demonstrating a tethered
spinal cord associated with a lipoma of the
• Lower-back pain, scoliosis. clubfoot, filum terminale.
neurogenic bladder, bowel, paresis/
paralysis below lesion
( T_R_EA_~_M_EN_T
)
( D_IA_GN_O_s,_s)
SURGERY
DIAGNOSTIC IMAGING • Relieve spinal cord strain (if possible)
• Corrective orthopedic surgery
Spinal MRI
• Conus medullaris located below the normal
L2-3 level OTHER INTERVENTIONS
OTHER DIAGNOSTICS
53
NOTES
NOTES
•• CNS DEMYELINATING
DISORDERS
c PATHOLOGY & CAUSES ) c DIAGNOSIS )

• Disorders affecting brain, spinal cord; DIAGNOSTIC IMAGING
damage to oligodendrocytes ----> loss of
myelin, axons CT scan, MRI
• Damage mostly caused by autoimmune • Abnormal signals in white matter regions
reaction
O Inflammatory cells release cytotoxic LAB RESULTS
molecules/engulf cells • Cerebrospinal fluid (CSF)
• Trigger unknown , j cell count, j protein level
RISI( FACTORS OTHER DIAGNOSTICS

• Genetic predisposition • Neurologic symptoms
• Environmental factors (e.g. infections)
c SIGNS & SYMPTOMS ) c TREATMENT )

MEDICATIONS
• Motor: weakness, tremors, paraparesis/ • Reduce inflammation (e.g. corticosteroids)
quadriparesis
• Sensory: abnormal sensations. numbness,
visual problems
OTHER INTERVENTIONS
• Plasma exchange
• Autonomic: sphincter, sexual dysfunction
• Manage symptoms
54
ACUTE DISSEMINATED
ENCEPHALOMYELITIS
osms.i-l/ cieu-le-diss-eneephcilom14eli-lis

• Autoimmune disease characterized by • Sudden onset of symptoms 1-3 weeks
sudden inflammation of brain, spine; after interaction with pathogen
destruction of myelin sheath at multiple • Systemic inflammation (fever, headache,
locations nausea, vomiting)
• Sensory, visual deficits
Type IV hypersensitivity reaction
• Seizures, confusion, drowsiness
• Cell-mediated
• Motor deficits, weakness, ataxia
• T-cells penetrate blood brain barrier,
activated by myelin antigens (myelin • Oculomotor deficits, nystagmus, dysarthria
basic protein, proteolipid protein, myelin • Coma
oligodendrocyte protein) - release of
cytokines (IL-1, IL-6, TNF-alpha, interferon-
gamma) ( D_IA_GN_O_s,_s
__ )
O Direct damage to oligodendrocytes,
myelin DIAGNOSTIC IMAGING
O Blood brain barrier expresses more MRI
receptors - attracts more immune cells
• Multiple lesions in white matter regions of
(B-cells, macrophages) - blood vessel
central nervous system (CNS)
dilatation
• Open ring sign with contrast enhancement
• B-cell activation - production of
autoantibodies against myelin proteins • Edema
• Macrophages look for antibody marked CT scan
oligodendrocytes, destroy them
• Emergency cases
• Low density lesions in white matter region
CAUSES
• Antigen mimicry
LAB RESULTS
O Antibodies aimed against pathogen
• Lumbar puncture
antigens bind to myelin proteins
O j protein, j cell count (lymphocytes),
high level of antibodies, CSF culture
RISk FACTORS
• Genetic predisposition
OTHER DIAGNOSTICS
• Infections
• Clinical
O Viral (measles, mumps, rubella); O Polyfocal neurologic symptoms,
bacterial (Mycoplasma pneumoniae,
encephalopathy
beta-hemolytic Streptococci)
• Microscopically
• Vaccination
O All lesions similar, preserved axons with
O Measles-mumps-rubella (MMR)
myelin loss, mononuclear infiltration,
vaccination
foamy macrophages
• Usually affects children
55
(..____ T_R_E~_~_M_EN_T
)
MEDICATIONS
• Corticosteroids
, Reduce inflammation
, E.g. glucocorticoids
• Cyclophosphamide
= Cell cycle inhibition
OTHER INTERVENTIONS
• Intravenous immune globulins
, Neutralize antibodies
• Plasma exchange
Figure 68.1 An MRI scan of the head of

an individual with acute disseminated
encaphalomyelitis. There are bilateral,
asymmetrical, tumefactive lesions of the
cerebral white matter.
CENTRAL PONTINE MYELINOLYSIS

osmsJl/ een-lTo.1- on-line-m14elinol14sis
, Potassium, sodium surge back into
( PATHOLOGY & CAUSES ) astrocytes ----> j cation concentracion
, Shrinkage of endothelial cells ---->
• Destruction of myelin sheath around nerve
distortion of blood brain barrier e-
cells in pons due to rapid osmotic changes complements, cytotoxic elements form
(osmotic demyelination syndrome)
blood leak into brain
• ! sodium level in serum ----> water leakage • Damage astrocytes, induce apoptosis
through blood brain barrier e- j brain
, Interruption of myelin-making process in
volume
oligodendrocytes
• Activation of defense mechanisms
O Release of cytokines
O After few minutes: j intracranial
O Activation of microglia
pressure pushes excess water, sodium
into CSF----> ! brain volume
O After few hours: astrocytes release RISI( FACTORS
organic solutes ----> release of excess • Sodium level< 120meq/L
intracellular water v- evening osmolarity • Hyponatremia lasts > two days
with serum
• Syndrome of inappropriate diuretic
O After two days: fully adapted to altered hormone (SIADH)
osmolarity , Kidneys retain too much water
• Sudden correction of hyponatremia in
• Alcoholism, malnutrition
already adapted brain
56
COMPLICATIONS
• Respiratory failure, aspiration pneumonia,
( T_R_E~_~_M_EN_T
__ )
coma, death
OTHER INTERVENTIONS
• Correcting serum sodium slowly
(__ s,_G_NS_&_S_Y_M_PT_O_M_s_) • 6-8 weeks; endotracheal intubation,
ventilator support
• Movement disorders
• Paraparesis/quadriparesis
• Severe cases
0 "Locked-in" syndrome (conscious,
paralyzed; can only move eyes, blink)
• Dysarthria, dysphagia, diplopia
• Seizures, confusion, lethargy, coma
( D_IA_GN_o_s,_s __ )
DIAGNOSTIC IMAGING
MRI
• Earliest changes seen in diffusion weighted
imaging (DWI)
O Restriction in pons region
• Later changes
O High T2, low Tl signal
0 "Trident sign" (trident spear-shaped Figure 68.2 An MRI scan of the head and
lesion in pons) neck in the sagittal plane demonstrating
a hypointense lesion in the pons of an
CT scan individual with central pontine myelinolysis.
• Low sensitivity; low attenuation signal in
pons
PET
• Initial high uptake
57
MULTIPLE SCLEROSIS (MS)
osmsJl/ muH:i le-seleresls
years apart
( PATHOLOGY & CAUSES ) , Improvement after attack
, Residual permanent damage
• Autoimmune demyelinating disease
accumulates
of nerve cells in brain, spinal cord
characterized by various neurological , Disabilities do not increase between
disorders bouts
• Cell-mediated (Type IV) hypersensitivity • Secondary progressive multiple sclerosis
reaction (SPMS)
, T cells, B cells, macrophages , Starts as RRMS
, Over time attacks become constant -
Tcells progression of disabilities
• Break through blood brain barrier - • Primary progressive multiple sclerosis
activated by myelin proteins (myelin basic (PPMS)
protein)
, One constant attack - progression of
• Th 17 cells produce cytokines - attract disabilities over lifetime
other leukocytes • Progressive-relapsing multiple sclerosis
• Thl cells produce interferon gamma - (PRMS)
activation of macrophages O One constant attack
• Produce cytokines (IL-1, IL-6, TNF-alpha) O Superimposed bouts - faster
, Oligodendrocytes damaged progression of disabilities
, Blood brain barrier expresses more
receptors for other leukocytes
RISI( FACTORS
, Blood vessels dilate; easier passage for
• Genetic
other leukocytes
, Individuals who are biologically female
B cells twice as susceptible
• Produce antibodies that bind to myelin , Polymorphisms of certain alleles of
proteins, mark them major histocompatibility complex (e.g.
HLA-DR2; identifying, binding of foreign
Macrophages molecules)
• Recognize marked oligodendrocytes, engulf • Environmental
them O Infections (e.g. Epstein-Barr virus
• Attacks infection)
, Early: regulatory T cells reduce O Vitamin D deficiency
inflammation - oligodendrocytes heal, • Usually affects young adults
renew myelin (remyelination)
, Later: repetitive extensive damage -
death of oligodendrocytes - loss of MNEMONIC: MS MS
myelin - damage, loss of axons Pathology of multiple
sclerosis
TYPES Multiple Sclerosis affects
• Relapsing-remitting multiple sclerosis Myelin Sheath
(RRMS)
, Bouts of autoimmune attacks, months/
58
OTHER DIAGNOSTICS
) • Clinical
= Neurologic symptoms with relapsing-
• Charcot's neurologic triad
remitting course
O Dysarthria, nystagmus, intention tremor
• Visual evoked potential
• Lhermitte's sign
= Measure response to visual stimuli
O Bending neck forward ----> electric shock
runs down back, radiates to limbs
• Higher order activities
O Poor concentration, critical thinking;
depression, anxiety
Plaque location
• Brainstem
° Conscious movements (e.g. difficulty
talking/eating)
O Unconscious movements (e.g. difficulty
swallowing)
• Eye nerves
O Optic neuritis (e.g. loss of vision)
O Eye movement nerves (e.g. double
vision)
• Motor pathways
O Muscle weakness, spasms, tremors,
ataxia, paralysis
the sagittal plane demonstrating multiple
• Sensory pathways
demyelinating plaques adjacent to the corpus
O Numbness; pins, needles; paresthesias callosum. This radiological sign is known as
(tingling, itching, burning) Dawson's fingers and is specific for multiple
• Autonomic nervous system sclerosis.
Constipation, urinary incontinence,
°
sexual dysfunction
)
DIAGNOSTIC IMAGING
MRI
• Hypointense Tl, hyperintense T2 lesions
• ~ one lesions in periventricular,
juxtacortical, infratentorial, spinal cord
• Gadolinium-enhanced, nonenhanced
lesions simultaneously
• Dawson's fingers
O Plaques radiating outwards from corpus
callosum in sagittal images
LAB RESULTS Figure 68.4 An MRI scan of the head in

• CSF the axial plane demonstrating the multiple
O High levels of antibodies demyelinating plaques present in the brain of
an individual with multiple sclerosis.
59
• Progressive MS
(..____ T_R_E~_~_M_EN_T
) , Manage symptoms (e.g. urinary
incontinence), physical therapy,
MEDICATIONS cognitive rehabilitation therapy,
• RRMS vitamin D
Corticosteroids, cyclophosphamide,
°
intravenous immunoglobulin
OTHER INTERVENTIONS
• RRMS
O Plasmapheresis: removing antibodies
O lmmunosuppressants
TRANSVERSE MYELITIS
osms.i"l/-lro.nsverse-m14eli-lis
( PATHOLOGY & CAUSES ) C__s,_G_Ns_&_s_v_M_PT_O_M_s

• Rare immune disorder affecting spinal cord; • Motor: extremity weakness=- para paresis
causes acute motor, sensory, autonomic • Sensory: abnormal sensations, numbness,
defects pain
• Perivascular inflammation (monocytes, • Autonomic: sphincter, sexual dysfunction
lvmphocvtesr-e damage to
oligodendrocytes ----. loss of myelin sheath
around axons----. loss of axons, neurons ( DI_A_GN_o_s,_s
__ )
TYPES DIAGNOSTIC IMAGING
• Acute partial
MRI
O Asymmetric dysfunctions
• Hypointense/isointense Tl, hyperintense
0 1-2 segments involved
T2 signal
• Acute complete
• Abnormal contrast enhanced signal on :::::
O Symmetric dysfunctions one segment
0 1-2 segments involved • Spinal cord swelling
• Longitudinally extensive
O Symmetric/asymmetric dysfunctions LAB RESULTS
0 > two segments involved
• CSF
, j cell count (lymphocytes). j protein
RISI( FACTORS level
• CNS, systemic infections
• CNS disease (e.g. multiple sclerosis) OTHER DIAGNOSTICS
• Clinical
, Motor, sensory, autonomic defects
60
( T_R_E~_~_M_EN_T
)
OTHER INTERVENTIONS
• Intravenous glucocorticoids
• Plasma exchange
Figure 68.5 An MRI scan of the spine in

the sagittal plane demonstrating increased
T2 signal uptake in the spinal cord, typical
of transverse myelitis, extending from C7
downwards and ending at T12 (not shown).
61
NOTES
NOTES
• • CONGENITAL MYOPATHIES
• Inherited, progressive myopathic disorders • Motor development milestone delays (e.g.
caused by genetic dystrophin gene walking)
mutation (dystrophinopathies) • Progressive limb, girdle weakness
• Duchenne and Becker's muscular • Gowers' sign
dystrophy (most common types) , Weak hips, upper legs - using arms to
OX-linked recessive inheritance pattern help stand
• Dystrophin protein • Waddling gait
O Normally links intracellular actin, • Musculoskeletal abnormalities (e.g. calf
dystrophin-associated protein complex pseudohypertrophy, scoliosis, contracture)
to extracellular matrix to stabilize • Progressive mobility impairment
sarcolemma
• Genetic defect - misshapen/absent
dystrophin protein - weak sarcolemma, ( D_IA_GN_O_s,_s
__ )
cell damage - creatine kinase escapes
from/calcium enters damaged cell - • See individual myopathies
cell death - muscle degeneration -
progressive weakness
( T_R_E~_~_M_EN_T
__ )
• See individual myopathies
BECl(ER'S MUSCULAR DYSTROPHY
MNEMONIC: SMD
( PATHOLOGY & CAUSES ) Cause of Becker's Muscular
Dystrophy
• Caused by misshapen dystrophin gene due
Badly
to missense mutation
Made
O See mnemonic: BMD
Dystrophin (truncated protein)
COMPLICATIONS
• Rapidly progressive heart failure,
arrhythmia
62
(..____ T_R_E~_~_M_EN_T
) __ )
• Milder form, later onset than Duchenne • No cure
muscular dystrophy
• Symptoms appear 10-20 years old MEDICATIONS
• Intellectual disability, contractures not as • Glucocorticoids to slow muscle
common/severe as Duchenne muscular degeneration
dystrophy
• Cardiac fibrosis may be predominant
presentation feature OTHER INTERVENTIONS
O Starting with right ventricular • Vitamin D, calcium supplements support
involvement, left ventricular dysfunction bone health
later • Physical therapy, conditioning
)
LAB RESULTS
Western blot
• Muscle biopsy
O Stain for dystrophin
DUCHENNE MUSCULAR
DYSTROPHY
osmsJl/ duehenne_museulo.T _d14s-lToph14
COMPLIC ATIONS
( PATHOLOGY & CAUSES ) • Wheelchair needed for rnobilitv-» scoliosis
OScoliosis ----> poor pulmonary function
• Caused by absent dystrophin gene due to
nonsense/frameshift mutation • Weak diaphragm ----> respiratory failure (may
develop)
O See mnemonic: DMD
• Fibrosis progression in dilated
cardiornyopathv-» mitral regurgitation
\ MNEMONIC: DMD (may develop)
Cause of Duchenne Muscular • Dilated cardiomyopathy (late stages) ---->
Dystrophy heart failure, arrhythmias (may develop)
Doesn't • Falling ----> arm, leg fractures
Make
O Vertebral compression fractures with
glucocorticoid therapy
Dystrophin
• Respiratory insufficiency/cardiomyopathy
----> death (late teens, early twenties)
63
)
• More severe dystrophinopathy form
• Symptoms appear by five years old;
weakness usually occurs 2-3 years old
• Walking begins later in childhood; may
have slow, ungainly run; difficulty jumping,
walking up steps
• Proximal-limb muscle weakness before
distal, lower extremities before upper
• Gowers' sign
• Waddling gait, calf pseudohypertrophy Figure 69.1 A muscle biopsy from an
individual in the later stages of Duchenne
• Decreased mobility
muscular dystrophy. The myocyte
O May lead to independent ambulation
hypertrophy is even more pronounced and
impairment, wheelchair-use by 12 years
there is marked fatty replacement of the
old (usually)
muscle.
• Primary dilated cardiomyopathy,
conduction abnormalities
C T_R_E~_~_M_EN_T
__ )
• No cure
MEDICATIONS
• Glucocorticoids to slow muscle
degeneration
OTHER INTERVENTIONS
• Vitamin D, calcium supplements support
bone health
• Physical therapy, conditioning
Figure 69.2 A muscle biopsy from an

individual in the early stages of Duchenne
muscular dystrophy. There is variation in
myocyte size with small atrophic myocytes
juxtaposed with large, rounded hypertrophic
myocytes. There is intervening fibrosis.
C D_IA_GN_o_s,_s
__ )
LAB RESULTS
Western blot
Figure 69.3 A histological section of muscle
• Muscle biopsy
showing complete fibrofatty replacement in
O Stain for dystrophin end stage Duchenne muscular dystrophy.
64
NOTES
NOTES
• • CORTICAL DISORDERS
)
• Cortical structure damage in brain ----> DIAGNOSTIC IMAGING
functional regional-specific impairment • CT scan, MRI, single-photon emission
computerized tomography (SPECT),
positron emission tomography (PET)
CAUSES
• Stroke (common), hemorrhage, infection,
tumor, trauma, surgery, degenerative LAB RESULTS
disease (e.g. Broca's aphasia, Wernicke's • Cerebrospinal fluid (CSF) analysis
aphasia, Kluver-Bucy syndrome)
OTHER DIAGNOSTICS
• Affected brain region dependent
• Broca's aphasia
O Expressive nonfluent aphasia ( T_R_E~_~_M_EN_T
__ )
• Wernicke's aphasia
OTHER INTERVENTIONS
O Receptive fluent aphasia • Address underlying cause
• Kluver-Bucy syndrome
O Amnesia, compulsive eating,
hypersexuality MNEMONIC: MD vs. DPM
Cortical brain
Memory Discrimination
Subcortical brain
Devoid of seizure
Primary sensation through
thalamus
Movement disorders (most)
65
BROCA'S APHASIA
osms.i-l/\>Toee1s-e1phe1sie1
• Broca's area: anterior to primary motor
( PATHOLOGY & CAUSES ) cortex, damage to adjacent areas
- individual may have associated
• Aphasia contralateral hemiparesis, hemisensory loss
O Language loss/defect (speaking, fluency,
reading, writing, comprehension)
O Injury to brain's language centers - C D_IA_GN_O_SI_S
__ )
different aphasia types
O Most lesions involve dominant DIAGNOSTIC IMAGING
hemisphere (left in 95% of right-handed • Findings vary by underlying aphasia cause
individuals, right in 50% of left-handed , May include evidence of bleeding/
individuals) hypodensities (stroke); mass effect,
• Broca's aphasia overt tumors (cancer)
O Broca's area: responsible for language , Functional imaging will reveal regional
comprehension perfusion deficits
O Damage to Broca's area - expressive
Brain CT scan
nonfluent aphasia (trouble expressing
language - "individuals know what • With/without contrast
they want to say, but cannot get it out")
MRI
• Standard MRI
CAUSES • Diffusion tensor imaging (images white
• Stroke (superior division of left-middle matter tracts)
cerebral artery), traumatic brain injury, brain • Functional MRI (images neurological
tumor, cerebral hemorrhage activity)
SPECT/PET
) • Images neurological activity
• Slowed, effortful speech

• Short sentences without grammatical
OTHER DIAGNOSTICS
construction (content appropriate, • Language assessment, screening tools
meaningful)
• Individual with Broca's aphasia may
describe trip to barber for haircut as follows
( T_R_E~_~_M_EN_T )
0 "Yes ... errr ... Tuesday ... er ... Dad and
Kevin T. .. (his own name), and Dad .... er ...
• Most individuals improve/recover
the mall. .. and ah ... Tuesday Tuesday,
spontaneously within one month
ten o'clock ... and .. oh barber one ... um'
barber ... and er ... hair ... "
• Written, spoken language comprehension OTHER INTERVENTIONS
intact (or mildly impaired) • Speech therapy (early initiation)
• Self-monitoring speech (generally still
capable) - awareness of speech deficit
66
l(L0VER-8UCY SYNDROME
osms.i"l/lcluveT-8ue14_s14nd Tome
( PATHOLOGY & CAUSES ) ( D_IA_GN_o_s,_s)

• AKA bilateral temporal lobe disorder • Three/more symptoms present (most
• Caused by bilateral lesions to medial commonly placidity, hyperorality, dietary
temporal lobe changes)
O Hippocampus, surrounding structures
including amygdala; vital for declarative, DIAGNOSTIC IMAGING
long-term memory
CT scan/MRI
• Temporal lobe lesions
CAUSES
• Trauma/lobectomy, herpes simplex
encephalitis, stroke, Pick's disease, LAB RESULTS
Alzheimer's disease • If viral encephalitis underlying cause - CSF
analysis, serology
• CSF fluid analysis
(__ s,_G_NS_&_S_Y_M_PT_O_M_s
) , Normal/mild protein j, normal/low
glucose content, normal/raised red cell
• Amnesia (profound antero-, retrograde count, lymphocytosis
amnesia), inappropriate things/compulsive
• CSF serology
eating, inappropriate object insertion into
mouth, hypersexuality, visual agnosia , CSF antibodies compared to serum-
(inability to recognize familiar objects/ specific antibodies
people), docility (diminished fear/aggression , 4x rise in virus specific lgG/positive lgtv1
response) • CSF polymerase chain reaction (PCR) -
specific virus identification
( T_R_EA_~_M_EN_T
)
MEDICATIONS
• Herpes simplex encephalopathy -
antivirals
67
WERNICl(E'S APHASIA
osms.i"l/wernielces-o. ho.sio.

• Wernicke's aphasia DIAGNOSTIC IMAGING
O Wernicke's area: assigns speech sounds • Findings vary by aphasia cause
meaning , May include evidence of bleeding/
O Damage to Wernicke's area - receptive, hypodensities (stroke); mass effect,
fluent aphasia (trouble interpreting tumor (cancer)
language) n Functional imaging reveals regional
perfusion deficits
CAUSES Brain CT scan
• Typically stroke (left middle cerebral artery),
traumatic brain injury, brain tumor, cerebral
• With/without contrast
hemorrhage
MRI
• Standard MRI
• Impaired written, spoken language • Diffusion tensor imaging
comprehension • Functional MRI
• Unaware of speech error, meaninglessness
SPECT/PET
• Speech-specific symptoms
• Jargon: neologisms, real words used
meaninglessly; structurally intact speech,
typical intonation but lacks content OTHER DIAGNOSTICS
O Literal (phonemic) paraphasia: • Language assessment, screening tools
substitution, addition, rearrangement
of sounds - errors sound like intended
word( e.g. "nog" instead of "dog") ( T_R_E~_if_M_EN_T__ )
O Verbal (semantic) paraphasia: related
word instead of intended word (e.g OTHER INTERVENTIONS
"spoon" instead of "fork") • Most individuals improve/recover
O Neologism: made-up non-word instead spontaneously within one month
of intended word (e.g. "fluparp" for • Speech, comprehension therapy (early
"kettle") initiation)
O Circumlocution: describe intended word
(e.g. "it's pointed, thin, you write with it",
in reference to a pen)
O Run-on speech: verbalized idea stream
related to topic (e.g. asked what do you
do at the pet store: "The pet store is a
place, it is a place with many pets, and
pet food, my favourite animals are dogs,
at the pet store I buy food for my dog,
there are also fish at the pet store ... ")
68
Normal---+ Not fluent.
Moderate-+ severe Moderale-+ severe
mild difficulty effortful, slow
Mild -+ severe Mild -+ severe Severely impaired Fluent
69
NOTES
NOTES
• • CRANIAL NERVE INJ'"URY
_ _____..)
• Brain/cranial nerves injury----> neurological DIAGNOSTIC IMAGING
dysfunction
CT scan/MRI
• Specific, focused neurological functioning
CAUSES tests
• Trauma (accidental, inflicted), autoimmune,
infectious, idiopathic
) ( T_R_E~_~_M_EN_T
)
• Varies widely • Symptomatic complications, treat
O Area-dependent underlying causes
BELL'S PALSY
osms.i"l/\>ells- o.ls14
RISI( FACTORS
( PATHOLOGY & CAUSES ) • Age (peak incidence> 50), diabetes
mellitus, pregnancy (third trimester), early
• Lower motor neuron weakness of cranial
postpartum
nerve VII (facial nerve)----> acute, peripheral
facial palsy
• Adversely affects facial motor activity; COMPLICATIONS
lacrimal, salivary glands (parasympathetic • Corneal exposure ----> keratitis, motor
fibers); taste (afferent fibers on anterior regeneration ----> oral incompetence,
two-thirds of tongue); external auditory reinnervation "miswiring" ----> synkinesis
canal, pinna (somatic afferents) (involuntary muscle movement)
• Etiology unknown • Incomplete sensory regeneration
O Potentially viral-associated ischemia, , Dysesthesia (unpleasant/abnormal
demyelination (e.g. herpes zoster, touch), dysgeusia (distorted taste),
herpes simplex (HSV), Epstein-Barr ageusia (decreased taste)
virus, Lyme disease)
70
(
) D_IA_GN_o_s,_s)
• Unilateral facial weakness evolves rapidly LAB RESULTS
over 48 hours • Serologic testing if viral infection suspected
O Eyebrow sags, eye won't close, mouth
corner droops (drooling, difficulty eating/
OTHER DIAGNOSTICS
drinking), decreased tear production ---->
• House-Brackmann facial nerve dysfunction
ocular dryness, hyperacusis (! everyday
classification
sound tolerance), ageusia (decreased
taste sensation) , Grades facial muscle impairment degree
• Prodromal symptoms (pre-onset) = Normal, mild, moderate, moderately-
severe, severe, total paralysis
O Ear pain, dysacusis (sound distortion)
• Palpebral-oculogyric reflex (Bell
• See mnemonic: BELL'S Palsy
phenomenon)
= Attempted eyelid closure ----> upward eye
\ MNEMONIC: BELL'S Pals14 deviation
Symptoms of Bell's palsy • Stethoscope loudness test
Blink reflex abnormal = Individual listens to tuning fork through
stethoscope
Ear sensitivity
= Hyperacusis indicates paralyzed
Lacrimation: deficient, excess
stapedius muscle on affected side
Loss of taste
• ! pinprick sensation in posterior auricular
Sudden onset
area
Palsy: CN VII nerve muscles
• ! taste
(All symptoms are unilateral)
= Sweetness, saltiness, acidity
• Motor nerve conduction studies (NCS)
= Estimates axonal loss degree
(..____ T_R_E~_~_M_EN_T
)
MEDICATIONS
• Corticosteroids
O Symptom onset----> begin within 3-4
days
OTHER INTERVENTIONS
• Artificial tears, eye patching
O Reduce corneal damage risk
• Physical therapy (e.g. facial exercise,
neuromuscular retraining)
• May resolve spontaneously within three
weeks
Figure 71.1 An individual with Bell's palsy

affecting the right side of the face.
71
TRIGEMINAL NEURALGIA
osmsJl/-lTigemino.1-neuTo.lgio.

• AKA tic douloureux; stimulating facial DIAGNOSTIC IMAGING
trigger zone ----> intense, stabbing,
paroxysmal pain in trigeminal nerve (cranial CT scan/MRI
nerve V-usually V2/V3 subdivisions) • May identify lesion/vascular compression
O Triggers: touching/moving tongue, lips, • Electromyographyrigeminal reflex testing
face; chewing; shaving; brushing teeth; O Measures muscles', controlling nerves'
blowing nose; hot/cold drinks electrical activity
TYPES OTHER DIAGNOSTICS

• Classic • Classic trigeminal neuralgia
O Most common; unknown etiology, O No clinically evident neurologic deficit,
artery/vein compressing cranial nerve no better explanation via another
(CN) V root may----> pain diagnosis, ;:=: three attacks of unilateral
• Secondary facial pain fulfilling criteria A and B
O Nonvascular lesion compressing nerve O A: Occurs in z one trigeminal nerve
----> pain divisions, no radiation beyond trigeminal
distribution
8: Pain has three or more of the
RISI( FACTORS 0
following four characteristics: recurring

• Biological sex (female > male)
paroxysmal attacks(< two minutes);
• Age (peak incidence 50-60) severe intensity; shock-like, shooting,
• Demyelinating disorders (e.g. multiple stabbing, sharp pain; stimulating
sclerosis) affected facial side ----> > two attacks
• Postherpetic trigeminal neuropathy (other attacked may be spontaneous)
• Acoustic neuroma
• Saccular aneurysm
• Vestibular schwannoma
C....___ T_R_E~_if_M_EN_T__ )
MEDICATIONS
C__s,_G_Ns_&
__sv_M_PT_O_M_s_) • Pain management
• Pain paroxysms SURGERY

O Last one-several seconds; may repeat; • Microvascular decompression
usually unilateral • Neuroablation
• Dull pain between paroxysms O Rhizotomy with radiofrequency
• Facial muscle spasms/autonomic symptoms thermocoagulation/mechanical balloon

(e.g. lacrimation, diffuse conjunctiva! compression/chemical (glycerol) injection
injection, rhinorrhea) O Radiosurgery
O Peripheral neurectomy, nerve block
72
NOTES
• Acquired, progressive cognitive impairment • Memory loss, difficulty retaining new
• Involving one/more cognitive functions information
O Memory, concentration, language, • Language impairment
learning, praxis, judgment, executive • Executive dysfunction
functions, social cognition • Difficulty in handling complex tasks,
• Previous functional-level deterioration; concentration loss, poor judgement
consciousness remains intact • Visuospatial ability impairment
• Apraxia (inability to perform an action)
CAUSES • Behavioral disturbance
• Increasing age; most important risk factor • Personality change
• Alzheimer disease
• Vascular dementia including multi-infarct
dementia, Binswanger's disease ( D_IA_GN_o_s,_s __ )
• Lewy body dementia (DLB)
DIAGNOSTIC IMAGING
• Frontotemporal dementia (e.g. Pick disease)
CT scan
COMPLICATIONS • Reveals microinfarcts indicative of vascular
dementia
• Inability to function independently in
everyday life
• Debilitated state infections (death OTHER DIAGNOSTICS
secondary) • Mental status examination
• See mnemonic for summary O Identify cognitive impairment with
standardized mental status scales
• Montreal cognitive assessment (MoCA).
MNEMONIC: DEMENTIA
' mini-mental state examination (MMSE)
i
Common causes of Dementia • Neuropsychological testing
Diabetes O Quantitate cognitive impairment degree/
Ethanol domains involved (e.g. animal-naming
Medication test)
Environmental (eg CO • Post-autopsy brain biopsy
poisoning)
Nutritional
Trauma
Infection
Alzheimer's
73
neurotransmitter) levels; used for
C.._____ T_R_E~_~_M_EN_T
) Alzheimer disease, DLB
• Memantine
• Treatment/control of reversible causes
, N-methyl-D-aspartate (NMDA) receptor
antagonist (neuroprotective, disease-
MEDICATIONS modifying drug) for advanced dementia
O t acetylcholine (brain's primary
ALZHEIMER'S DISEASE (AD)

osmsJI:/o.lzheimeTs-diseo.se
RISI( FACTORS
( PATHOLOGY & CAUSES ) • l age (> 60 years old - risk doubling every
five years)
• Neurodegenerative disease; beta amyloid
• Family history
plaque, neurofibrillary tangle formation
- impaired neuronal signaling, neuron • Trisomy 21 (Down syndrome)
apoptosis • Gene mutations affecting APP, presenilin 1
• Most common form of dementia and 2 (gamma secretase subunits)
• Sporadic (95% of cases), typically> 60 • Apolipoprotein E-e4 alleles (ApoEe4)
years old , ApoE normally breaks down beta
O Early AD onset unusual, mostly familial amyloid, e4 alleles encode less effective
ApoE
• Amyloid precursor protein (APP)
• History of hypertension, dyslipidemia,
O Normally located in neuronal membrane
cerebrovascular disease, altered glucose
O Growth, neuron-repair contributor metabolism, brain trauma
O Abnormal APP degradation via beta
secretase (normally degraded by
gamma, alpha secretase) - APP cut COMPLICATIONS
into insoluble fragments - create beta • Complete debilitation, dependence on
amyloid plaque - AD results others
O Beta amyloid plaque pathology: • Debilitation - dehydration, malnutrition,
signalling obstruction - deposits infection
around vessels (amyloid angiopathy), • Death occurs 5-10 years after symptoms
l hemorrhage risk - initiates onset
inflammatory response
• Tau proteins
O Intracellular microtubule-associated MNEMONIC: RONALD
proteins Features of AD
O In AD, Tau proteins become Reduction of Ach
pathologically hyperphosphorylated Old age
- aggregate, stop supporting Neurofibrillary tangles
microtubules - form neurofibrillary Atrophy of cerebral cortex
tangles - obstruct neuronal signaling (diffuse)
- neuron apoptosis
Language impairment
Dementia (MC in elderly)/
Down's syndrome
74
MNEMONIC: ALZHEIMER'S
) Characteristics of AD
Anterograde amnesia
• Insidious onset, symptom progression
Life expectancy increase in
Early stages population shows increased
• Initial symptom prevalence
0 (Commonly) recent memory impairment; Zapped (loss of)
inability to acquire, remember new acetylcholinergic neurons
information Hereditary disease
• Executive dysfunction Entire hippocampus affected
O Impaired reasoning, handling complex Identified by neurofibrillary
tasks, concentration/motivation loss, tangles
difficulty making/executing plans, poor Mutation in amyloid genes
judgement Entorhinal areas degenerate
O Impaired visuospatial skills first
O Reduced insight into cognitive deficit Retrograde amnesia
(anosognosia) Senile plaques at synapse
O Sleep disturbance
Intermediate/later stages
OTHER DIAGNOSTICS
• Mental status scale clinical assessment
• Behavioral, psychological symptoms
(e.g., MoCA, MMSE)
O Apathy, social disengagement,
irritability, agitation, aggression,
wandering, psychosis (hallucination, = Confirm cognitive impairment diagnosis
delusion) • Post-autopsy brain biopsy
• Motor task completion = Shows characteristic beta-amyloid
O Difficulty (dyspraxia)/inability (apraxia) plaque, neurofibrillary tangle
O Impaired language function (e.g. word-
finding deficit)
O Remote memory loss
O Seizure
O Motor signs (e.g. pyramidal signs)
Advanced
°Complete debilitation, dependence on
others, urinary/fecal incontinence
(..____ D_IA_GN_O_SI_S)
• Diagnosis of exclusion
DIAGNOSTIC IMAGING
CT scan/MRI Figure 72.1 An MRI scan in the axial plane
demonstrating prominent sulci and gyri in an
• Exclude other dementia causes
individual with Alzheimer's disease.
• Brain scans show diffuse cortical (especially
hippocampus) atrophy, gyri narrowing, sulci
widening, ventricle enlargement
75
(..__ __ T_R_E~_~_M_EN_T
)
• No cure
MEDICATIONS
• Vitamin E supplementation may provide
benefit
• Memantine (advanced stages)

hippocampus from an individual with
Alzheimer's disease demonstrating a
neurofibrillary tangle.
Figure 72.3 A histological section of brain

from an individual with Alzheimer's disease
demonstrating multiple amyloid plaques.
LEWY BODY DEMENTIA

osms.i"l/lew14-\,od14-deme n-l:io.
COMPLICATIONS
( PATHOLOGY & CAUSES ) • Persistent psychotic symptoms, especially
visual hallucinations
• Degenerative disease
• Depression
O Early dementia, visual hallucinations
• Complete debilitation, dependence on
onset; later parkinsonian clinical feature
others
onset, presence of Lewy bodies
• Debilitation infection often - death; life
• Occurs at 50-85 years old (typically)
expectancy !
• More rapid cognitive decline than AD
• Neuroleptic-agent sensitivity
, Adverse effects (parkinsonism) j
CAUSES severity, symptom exacerbation
• Alpha-synuclein protein aggregation in
neurons (particularly cortex, substantia
nigra) forming Lewy bodies, - apoptosis
76
(
) T_R_E_AT_M_E_N_T __ )
Early stages • No cure
• Progressive, fluctuating cognitive function
impairment MEDICATIONS
O Attention, executive. visuospatial
functions; memory affected later Alleviate symptoms
• Visual hallucination, disorganized speech, • Acetylcholinesterase inhibitors
depression n Cognitive symptoms
• Dopamine analogue
Later stages
O Motor symptoms
• Motor symptoms mimic Parkinson's disease
• Atypical neuroleptic agents
O Resting tremor, stiffness, slow
O Persistent disabling hallucinations,
movement, reduced facial expressions
psychotic features (used very cautiously)
Other clinical features
• Rapid eye movement (REM) sleep behavior
disorder
O Sleep disturbance (sleep walking,
talking)
O Orthostatic hypotension, syncope,
urinary incontinence/retention.
constipation, impotence
• Repeated falls (parkinsonism). cognitive
fluctuation/orthostatic hypotension
• Neuroleptic sensitivity
Figure 72.4 A histological section of the brain

) demonstrating a Lewy body. They are caused
by the abnormal deposition of the protein
• Exclude other dementia causes alpha synuclein.
DIAGNOSTIC IMAGING ,.
. _.,
'. ·;:·~ '
Single-photon emission computerized ._.. '· r. •
tomography (SPECT) scanning
~.
• Dopamine transporter ligand ioflupane
1-123 (DaTSCAN) shows! transporter
perfusion
. .•
a-SVNUCLEIN
. .
'V
,..
- .,. ' .
•• "•
OTHER DIAGNOSTICS ' '

}
. -
..
° Confirms cognitive-impairment
diagnosis / - •
...

MoCA. MMSE) Figure 72.5 lmmunohistochemical tain for the
• Post-autopsy brain biopsy protein alpha synuclein highlights the Lewy
O Shows
bodies in the brain tissue of an individual with
Lewy bodies as eosinophilic
Lewy body dementia.
intracytoplasmic inclusions in cortical
neurons
77
FRONTOTEMPORAL DEMENTIA
(FTD)
osmsJl/f Ton-lo-lemporo.1-de me n-1:io.
( PATHOLOGY & CAUSES ) (__ s,_G_NS_&_S_Y_M_PT_O_M_

• Heterogeneous degenerative frontal/ • Frontal lobe involvement - behavior/
temporal lobe disease emotional changes
O Presents with personality/behavioral • Disinhibition, emotional blunting, apathy/
disturbances/aphasia empathy-loss, hyperorality, compulsive
• Occurs< 65 years old (typically) behavior, family/friend dissociation
O Memory loss develops later (argumentative/hostile behavior)
• Inherited/sporadic • Temporal lobe involvement - language

impairment, emotional disturbance
• Associated with specific-protein cellular
inclusions • Difficulty finding correct word, progressive
aphasia, impaired word comprehension,
O Tau proteins (Pick disease)
emotional impairment (anxiety/irrational
O TAR DNA-binding protein 43 (TDP43)
fear), sarcasm-recognition difficulty
• Protein buildup - stop neuronal signaling, • Later stages - cognitive decline
lead neurons to apoptosis
• Worsening memory, inability to learn new
• Concomitant motor disease: 15-20% (e.g. things, concentration loss
parkinsonism, motor neuron disease)
TYPES
Pick disease
• Specific pathological FTD subtype
characterized by presence of Pick bodies
(tangles of abnormal Tau proteins-3R tau
isoforms)
0 3R tau isoforms (particular amino-acid
sequence repeated three times) are
hyperphosphorylated, stop supporting
microtubules, tangle into round silver-
staining inclusion bodies (Pick bodies)

axial plane demonstrating frontotemporal
volume loss.
78
)
• Exclude other dementia causes • No cure
O Laboratory, imaging tests
MEDICATIONS
DIAGNOSTIC IMAGING
Symptom alleviation
MRI • Antidepressants
• Structural imaging O Severe behavioral symptoms
• Unilateral frontal/temporal atrophy, may - • Atypical antipsychotic drugs have
both hemispheres, ventricle enlargement significant side effects
• Cholinesterase inhibitors
SPECT/perfusion-MRI/PET
O No convincing evidence of benefit
• Functional imaging
• Affected-lobe hypometabolism,
hypoperfusion OTHER INTERVENTIONS
• Physical exercise; physical, occupational,
speech therapy; j supervision
LAB RESULTS
Genetic testing
MNEMONIC: PICk
• Familial FTDs
' Features of Pick disease
Pick disease-specific biopsy findings Progressive degeneration of
• Pick bodies neurons
O Round/oval, Tau-positive, neuronal lntracytoplasmic Pick bodies
cytoplasmic inclusions Cortical atrophy
• Pick cells Knife edge gyri
O Swollen (ballooned) neurons
OTHER DIAGNOSTICS
• Neuropsychological tests
O Normal in early stages
MoCA. MMSE)
• Post-autopsy brain biopsy shows
characteristic microscopic findings
O Microvacuolation, neuronal loss, swollen
neurons, myelin loss, astrocytic gliosis,
abnormal protein inclusions
Figure 72.7 A brain at post mortem with

frontotemporal degeneration.
79
VASCULAR DEMENTIA
osms.i"l/ vo.seulo.T-de me ,rlio.
• Deficits due to subcortical infarcts
( PATHOLOGY & CAUSES ) , Focal motor signs
• Heterogenous dementia , Gait disturbance

O Results from multiple cerebrovascular , Urinary frequency/urgency
events/chronic ischemia , Personality, mood change
• Second most common dementia cause in , Relatively mild memory deficit
elderly , Improvements may occur between
• High Alzheimer disease comorbidity cerebrovascular events
• Multiple, bilateral, cortical, subcortical
infarcts/chronic ischemia - ! brain blood
supply - stepwise cognitive function (.____ D_IA_GN_O_s,_s
)
decline, gait abnormality, focal neurological
deficits DIAGNOSTIC IMAGING
O Prominent executive function deficit MRI/CT scan
O Late-onset memory impairment • Show multiple cortical, subcortical infarcts
• Binswanger's disease • Microinfarcts identified
O Large subcortical white matter areas , Initiate evaluation to define etiology
involved
= Carotid Doppler ultrasound: reveal
carotid plaques
CAUSES = Echocardiogram: reveal cardiogenic
• Cerebral artery atherosclerosis emboli
• Carotid artery/heart embolization
• Chronic hypertension - cerebral arterioles OTHER DIAGNOSTICS
sclerosis • Neuropsychological testing
• Vasculitis , Detects cognitive impairment, domains
involved
RISI( FACTORS , Similar language, construction, memory
• Smoking, hypertension, diabetes, registration deficits with AD, but more
insulin resistance, hyperlipidemia, impaired executive functioning
hyperhomocysteinemia • Microinfarcts identified
O Initiate evaluation to define etiology
( SIGNS & SYMPTOMS ) O
O
Holter monitor (detect arrhythmias)
Risk factor screening
• Progressive, stepwise cognitive function

impairment (affected cortical area-
dependent)
°Frontal: executive dysfunction (frontal)
O Left parietal: aphasia, apraxia, agnosia
O Right parietal: hemineglect, confusion,
agitation, visuospatial, constructional
difficulty
O Temporal: anterograde amnesia
80
( T_R_E~_~_M_EN_T
)
• No cure
MEDICATIONS
O Antihypertensive drugs, antidiabetic
agents, statins, antiplatelet agents
• Acetylcholinesterase inhibitors/memantine
OTHER INTERVENTIONS
O Lifestyle changes
Figure 72.8 An MRI scan in the axial plane

of the head of an individual with cognitive
impairment. There are multiple small white
matter infarcts and an absence of cortical
atrophy.
81
NOTES
NOTES
•• EAR PATHOLOGY
• Structural, functional pathology affecting DIAGNOSTIC IMAGING
different ear components • Otoscopy
• Outer ear: auricle, pinna, ear canal , Tympanic membrane visualization
OInflammation/infection - otitis externa
• Outer ear, middle ear: separated by OTHER DIAGNOSTICS
tympanic membrane (eardrum); normally
• Outer ear inspection
no air passage/fluids between two
• Hearing screening tests (Weber, Rinne
compartments
tests)
O Perforated eardrum - communication
, Distinguishes between conductive,
through tympanic membrane
• Middle ear: tiny chamber; contains
functional ear bones (malleus, incus,
stapes)
( T_R_E~_~_M_EN_T__ )
O Inflammatory middle ear disease -
otitis media MEDICATIONS
• Eustachian tube: connects middle ear to • Topical otic drops/systemic agents
nasopharynx
• Antihistamines/corticosteroids/
° Failure to open/close, remove secretions decongestants (guided by specific
- Eustachian tube dysfunction diagnosis)
(__ s,_G_NS_&_SY_M_PT_O_M_s_) SURGERY

• Drain fluid accumulation/debride
• Hearing loss granulation tissue/repair defect
• Ear pain
• Ear discharge
82
EUSTACHIAN TUBE DYSFUNCTION
osms.i"l/ eus-lo.ehio.n--lu\,e-d14sfune-lion
( PATHOLOGY & CAUSES ) Ciliary dyskinesia

• Acquired: toxlns e- ciliary damage,
• Any primary Eustachian tube function paralysis ---'> mucociliary elevator failure
failure n Cilia can't flick back and forth (e.g.
• Failure to equalize/dilatory dysfunction cigarette smoke)
O Eustachian tube may not open ---'> • Congenital: cystic fibrosis ---'> very thick
tympanic membrane stretches=- pain secretions not adequately cleared
Patulous dysfunction {chronicpatency)

• Normal Eustachian tube is two-way valve COMPLICATIONS
(opens to equalize pressure, closed at rest) • Conductive hearing loss, otitis media,
• Persistent opening ---'> irritant/bacteria tympanic membrane perforation,
entering middle ear cholesteatoma
Ciliary dyskinesia
• Tiny cilia line Eustachian tube, clear out (__ SI_G_NS_&_S_Y_M_PT_O_M_s
)
middle ear mucus secretion
• Ciliary dysfunction/dyskinesia: cilia fail • Affected ear is clogged, muffled
to clear section ---'> stagnant secretion ---'> • Ear pain
complications (e.g. otitis media) • Autophony (hearing one's own voice,
breathing)
CAUSES O Encountered primarily in patulous
dysfunction
Failure to equalize/dilatory dysfunction • If inner ear affected ---'> balance problems
• Functional: inflammation (viral infection-
e.g. common cold, allergy) ---'> Eustachian
tube swelling, secretion accumulation ---'> ( D_IA_GN_O_s,_s)
Eustachian tube mechanical blockage---'>
equalization failure DIAGNOSTIC IMAGING
• Anatomical: regional mass pressure (e.g.
tumour) or previous trauma scar/medical CT scan I MRI
procedure • Contrast in persistent effusion cases
• Neoplasm may cause Eustachian tube
Patulous dysfunction (chronic patency) obstruction
• Weight-loss (> 6 lbs/2.7 kg) - tissue
atrophy (e.g. chronic illness) Nasal endoscopy
• Chronic allergy/gastric-content reftux -e • Inflammation, secretion, allergic
mucosal atrophy manifestation signs
• Chronic gum-chewing ---'> repeated muscle- • Eustachian tube opening quality
facilitated Eustachian tube opening (assessed through yawn, swallowing
maneuvers)
• Short, floppy Eustachian tubes (in children)
---'> provide little resistance against middle-
Otoscopicear examination
ear reflux during j positive pressure on
• Normal tympanic membrane appears shiny,
nasopharyngeal end of tube (e.g. crying/
translucent
nose blowing)
83
• Examine for abnormality (e.g. retraction,
effusion, perforation) (.._____ T_R_E~_iT_M_EN_T
)
O Dull bluish-gray/yellowish coloration
denotes effusion behind membrane;
MEDICATIONS
reddish coloration, engorged vessels • Dilatory dysfunction
signal inflammation , Upper respiratory tract inflammation
• Pneumatic examination (viral infection, allergy) ---> short
intranasal/systemic decongestant,
° Fluid-filled ear minimizes tympanic
corticosteroid course
membrane excursion with insufflation
, Avoid decongestants/corticosteroids
OTHER DIAGNOSTICS
SURGERY
affected ear • Dilatory dysfunction
O Rinne test: BC > AC , Tympanostomy tubes: hollow tubes
inserted into eardrum ---> create direct
opening between middle, outer ear
---> allow easy pressure equilibration,
accumulated debris drainage
OTHER INTERVENTIONS
, Hydration, nasal saline drops/irrigation
OTITIS EXTERNA
osms.i"l/ o-li-lis-ex-leTne1
RISI( FACTORS
( PATHOLOGY & CAUSES ) • Frequent swimming
• Mechanical cleaning/irritation (cotton
• AKA "swimmer's ear"
swabs/scratching)
• Outer ear canal irritation
• Ear canal occlusion (hearing aid,
headphone)
CAUSES • Diabetes
• Outer ear canal microbial infection (primary
cause)
O Bacterial (90%): Pseudomonas ( SIGNS & SYMPTOMS )
aeruginosa, Pseudomonas vufgaris, E.
coli, S. aureus • Acute (< six weeks)
° Fungal: Candida albicans, Aspergilfus , Pinna traction ---> aggravated pain
niger , Otorrea: sticky yellow discharge)
• Dermatological conditions , Swelling, purulent debris e- external
O Allergic contact dermatitis, psoriasis, canal obstruction ---> conductive hearing
atopic dermatitis loss, +l- aural fullness
, Posterior auricular lymphadenopathy
84
Complicated otitis externa: periauricular
( T_R_E~_~_M_EN_T
)
°
soft tissue erythema, swelling

• Chronic (> three months)
MEDICATIONS
O External ear canal pruritus; epidermis
• General
atrophy, scaling; otorrhea; normal
tympanic membrane , Burow's solution: topical drops
application (buffered aluminum sulfate,
acetic acid mixture)
( D_IA_GN_O_s,_s __ ) • Bacterial
, Antipseudomonal otic drops/topical
LAB RESULTS steroid drops/combination
• Discharge = 3% acetic acid solution ----. acidify ear
O Gram stain, culture canal (bacteriostatic acidic pH)
= Systemic antibiotics (lymphadenopathy/
cellulitis)
OTHER DIAGNOSTICS
• Fungal
• Note physical outer ear change (discharge,
= Topicalantifungal preparation (e.g.
erythema, scaling)
gentian violet, boric acid)
• Chronic otitis externa (pruritus without
obvious infection)
affected ear
= Corticosteroid otic drops alone
O Rinne test: BC > AC
OTHER INTERVENTIONS
• General
= Clean ear under magnification ----.
irrigation, suction, dry-swabbing
• Fungal
= Debridement
Figure 73.1 An individual with otitis externa

of the left ear.
85
OTITIS MEDIA
osms.i"l/ o·IJlis-mediCl
CAUSES
( PATHOLOGY & CAUSES ) • Bacteria
, S. pneumoniae, H. influenzae, M.
• Inflammatory middle ear diseases
catarrhalis, group A streptococcus, S.
aureus)
TYPES • Virus
Acute otitis media
O Respiratory syncytial virus, influenza,
parainfluenza, adenovirus)
• Acute middle ear compartment infection
(< three weeks)
O Often viral/bacterial coinfection
• Acute infection/allergies - nasopharyngeal

mucous membrane inflammation - RISI( FACTORS
Eustachian tube dysfunction - secretion • Smoke, air-pollution exposure
reflux/aspiration from nasopharynx to • lmmunosuppression
middle ear (normally sterile) - infection
• Pacifier use; daycare
Otitis media with effusion • Down syndrome
• Fluid presence in middle ear, with/without • Recent upper-respiratory tract viral
infection signs infection
• Eustachian tube dysfunction - trapped • Craniofacial malformation (cleft lip/palate,
fixed gas volume in middle ear - microcephaly)
surrounding tissue slowly absorbs gas - ! • Cystic fibrosis
middle-ear pressure
, Sufficient! middle-ear pressure -
surrounding tissue fluid drawn into
middle ear cavity - middle-ear effusion
(transudate)
• Most common pediatric hearing loss cause
Chronic suppurative otitis media

• Acute otitis media complication - chronic
suppurative otitis media
• Perforated tympanic membrane with
persistent drainage(> 6-12 weeks)
• Acute otitis media - prolonged
inflammatory response - middle ear
mucosal oedema; tympanic membrane
ulceration, perforation - chronic middle
ear, mastoid cavity inflammation -
persistent discharge from middle ear
through perforated tympanic membrane
• Persistent infection/inflammation - Figure 73.2 A tympanic mebrane bulging as
granulation tissue - polyps within middle- due to the accumulation of pus in the middle
ear space - inflammation, ulceration, ear of an individual with otitis media.
infection, granulation tissue formation cycle
- eventual surrounding bony structure
destruction
86
COMPLICATIONS • Chronic suppurative otitis media
• Tympanic membrane perforation, O Perforated tympanic membrane;
mastoiditis, cholesteatoma, bacterial otorrhea; visible granulation tissue
meningitis, dural sinus thrombosis, (medial canal/middle-ear space); middle
conductive/sensorineural hearing loss ear mucosa (through perforation)
may be edematous, polypoid, pale,
erythematous
OTHER DIAGNOSTICS
• Acute otitis media
O Otalgia, fever, conductive hearing loss Otitis media with effusion
(triad) • Hearing tests for conductive hearing loss
° Children: ear pulling, crying, poor sleep, O Weber test: sound lateralized to
irritability affected ear
° Crying ----> small blood vessel distension O Rinne test: BC > AC
on tympanic mernbrane=-. mimics otitis • Audiological investigation
media redness (confounds diagnosis)
° Flat audiogram, tympanogram
O Ear fullness, conductive hearing loss +/-
tinnitus, no pain/fever ( T_R_E_AT_M_E_N_T __ )
O Perforated tympanic membrane; MEDICATIONS
otorrhea; hearing loss; no pain/ • Acute otitis media
discomfort; fever, vertigo, pain ----> • Analgesics
danger signs (possible complications)
• Systemic antibiotics if severe/persistent
(> three days)
( D_IA_GN_O_s,_s __ )
• Avoid antihistamines, decongestants ---->
DIAGNOSTIC IMAGING secretions thicken
CT scan/MRI • Corticosteroid drops----> ! granulation
• Acute otitis media tissue
O Severe cases with hearing loss/high • Antibiotics (topical/drops)
fever) • Granulation tissue control: granulation
O Excludes more serious complications tissue prevents affected-site topical
(e.g. bony destruction/meningitis) medication penetration
Otoscopy
• Acute otitis media SURGERY
O Tympanic membrane! mobility, • Acute otitis media
hyperemia, bulging membrane (pus • Frequent recurrence: tympanostomy
behind tympanic membrane), landmark tubes
loss (malleus handle, long process not • Otitis media with effusion
visible) • Severe cases: tympanostomy tubes,
• Otitis media with effusion myringotomy (tiny eardrum incision) +l-
O Amber/dull grey tympanic membrane ventilating-tube insertion
discoloration; meniscus fluid level j L
air bubbles behind tympanic membrane;
air insufflation ----> immobile tympanic
membrane
87
OTHER INTERVENTIONS • Chronic suppurative otitis media
• Otitis media with effusion O Mechanical/irrigative debris clearing:
O Watchful waiting: 90% of children aural toilet (mechanical removal of
clear fluid in three months without mucoid exudates, desquamated
intervention epithelium, associated debris prior
O Minor cases: may resolve to medication administration); aural
spontaneously; manual autoinflation irrigation (50% acetic acid/sterile water
(manually pinch nasal passage, close ear-rinse solution)
back of pharynx - forceful diaphragm
contraction)
PERFORATED EARDRUM
osmsJl/ perforo.-led-eo.rd rum
( PATHOLOGY & CAUSES ) (..____ D_IA_GN_O_SI_S

)
• Tympanic membrane communication DIAGNOSTIC IMAGING
between middle ear, external environment
Otoscopy
• Perforation visualization
CAUSES
• Otitis media
• Trauma
OTHER DIAGNOSTICS
• Hearing tests: conductive hearing loss
• Explosive/percussive force, exceptionally
loud noise , Weber test: sound lateralized to
affected ear
• Iatrogenic, sudden pressure j ! (with
blocked Eustachian tubes) , Rinne test: BC > AC
• Audiometry: conductive hearing loss
COMPLICATIONS
• Chronic infection - permanent hearing loss (..____ T_R_E~_~_M_EN_T
)
MEDICATIONS
( SIGNS & SYMPTOMS ) • Avoid otic drops containing gentamicin,
neomycin sulfate, tobramycin
O Hearing loss
, Ototoxicity - permanent hearing loss
O Tinnitus
• Otorrhea control
O Ear-ache (infection association)
• Topical: fluoroquinolone otic drops
O Otorrhea
= Systemic: antibiotics covering
O Nausea/vomiting respiratory flora
88
SURGERY
• Tympanoplasty: surgical repair
OTHER INTERVENTIONS
• Watchful waiting
O Perforations may heal in weeks/months
Figure 73.3 A partial perforation of the ear

drum.
89
NOTES
NOTES
• • ENCEPHALOPATHY
comprehensive metabolic panel (CMP)
( PATHOLOGY & CAUSES ) , j ammonia, j transaminases, j
prothrombin time, hyper/hypoglycemia
• Abnormal brain structure/function
• Permanent/reversible brain injury due to Cerebrospinal fluid (CSF)
direct injury/other illness • Determine underlying cause, rule out other
causes
OTHER DIAGNOSTICS
• Altered mental status Electroencephalogram (EEG)
O Irritability, agitation, confusion, • High-amplitude low-frequency, triphasic
somnolence, stupor, coma, psychosis, waves
delirium
• Seizure, myoclonus, asterixis, ataxia, tremor
( T_R_E~_~_M_EN_T
__ )
( D_IA_GN_O_s,_s
__ ) MEDICATIONS
• Anticonvulsants
DIAGNOSTIC IMAGING , Individuals with seizures due to
Brain imaging (CT scan, MRI, etc.) encephalopathy
syndrome (e.g. shrunken mammillary OTHER INTERVENTIONS
bodies) • Careful monitoring, supportive measures
(e.g. IV fluids, nutritional support)
LAB RESULTS
Blood studies
• Complete blood count (CBC),
90
BERIBERI
osms.i-l/\>eTi\>eTi
( PATHOLOGY & CAUSES ) ( D_IA_GN_O_s,_s

__ )
• Thiamine (vitamin Bl) deficiency DIAGNOSTIC IMAGING
O Decreased intake/inability to absorb
CT scan/MRI
thiamine
syndrome (e.g. shrunken mammillary
RISI( FACTORS bodies)
• Common in individuals who are alcoholic,
malnourished, elderly
OTHER DIAGNOSTICS
• History
COMPLICATIONS O Alcoholism/low nutritional state
• "Wet beriberi"
° Cardiomegaly, cardiomyopathy, heart
failure ( T_R_E~_~_M_EN_T
__ )
MEDICATIONS
• IV thiamine supplementation
• Avoid glucose before thiamine
• Nystagmus, ataxia, ophthalmoplegia if alcoholic; can precipitate
(triad of Wernicke-Korsakoff syndrome), encephalopathy
confusion
• Wet beriberi: tachycardia, dyspnea, edema
• Dry beriberi: peripheral neuropathy,
confusion. pain; AKA Wernicke-Korsakoff
syndrome
HEPATIC ENCEPHALOPATHY
osms.i-l/hepo.-lic-encepho.lopo.-lh14
• Other injuries (e.g. alkalosis, metabolic
( PATHOLOGY & CAUSES ) abnormalities, medications, bleeding,
infection) - hepatic encephalopathy
• Brain injury due to toxic metabolites; not
removed by liver due to liver dysfunction
• Accumulation of toxic metabolites
(e.g. ammonia), byproduct of nitrogen
metabolism
• Ammonia detoxification in astrocytes -
glutamine accumulation - osmotic stress
- swelling
91
OTHER DIAGNOSTICS
( SIGNS & SYMPTOMS ) • Psychometric tests
, Inhibitory control test (ICT); mental
• Mental status: confusion, poor
status changes
concentration, stupor, coma
• History
• Neuromuscular: asterixis, rigidity,
hyperreflexia , Liver disease, altered mental status
• Graded by severity EEG
O Grade I: mild; short attention span; • High-amplitude low-frequency, triphasic
mood, sleep problems waves
O Grade II: moderate; decreased energy,
slurred speech, tremors
O Grade Ill: severe; confusion,
anxiety
stupor,
c TREATMENT )
O Grade IV: coma MEDICATIONS
• Lactulose
C..____ D_IA_G_N_OS_IS
__ ) , Decrease absorption
• Rifaximin
of ammonia
n Kill bowel flora that produce ammonia

DIAGNOSTIC IMAGING
Tl-weighted MRI OTHER INTERVENTIONS
• Hyperintensity of globus pallidus • Nutritional support
, Limit protein intake
LAB RESULTS
• Blood tests
Or ammonia
REYE SYNDROME
osms.l"l/Te14e-s14ndTome
brain barrier - swelling, oxidative damage
( PATHOLOGY & CAUSES ) to astrocytes - brain inflammation, edema
- encephalopathy
• Encephalopathy, liver failure associated
with salicylate use in children with viral
illness C..___s,_G_Ns_&_s_Y_M_PT_o_M_s_)
• Rare syndrome in children ages 4-12;
associated with aspirin use during viral • Five stages
infection (e.g. varicella, influenza A/B)
1. Quiet, sleepy, vomiting
• Uncoupling of oxidative phosphorylation 2. Stupor, seizures, decorticate response,
reactions intact pupillary reflex
• Oxidative phosphorylation in mitochondria 3. Possible coma, decerebrate response,
fails - liver damage - nitrogen-containing absence of pupillary reflex
toxins not removed from blood - ammonia
4. Coma, absence of deep tendon reflex
accumulates in blood - crosses blood-
5. Death
92
OTHER INTERVENTIONS
( D_IA_GN_O_SI_S ) • Hyperventilation
= Manage cerebral edema
LAB RESULTS
• Careful monitoring, supportive measures
• Blood studies
(e.g. IV fluids)
• j ammonia, j transaminases, I prothrombin
time, hyper/hypoglycemia
OTHER DIAGNOSTICS
• History
O Viral illness, aspirin use
( T_R_E~_;i-_M_EN_T
)
MEDICATIONS
• Mannitol, glycerol
O Manage cerebral edema
of the liver of a child who died from
Reye syndrome. The hepatocytes have
accumulated fat droplets which causes a pale
appearance.
93
NOTES
NOTES
• • EPILEPSY& SEIZURES
• Idiopathic seizures/epilepsy disorder
( PATHOLOGY & CAUSES ) , Most common
• Disorders
• Seizure: brain neurons---'> abnormal,
excessive, synchronized electrical activity , Brain injury, brain abscess, brain tumors,
period eclampsia, encephalitis, Angelman
syndrome
° Clusters of brain neurons temporarily
impaired (seconds-minutes) ---'> • Cerebrovascular disease
paroxysmal electrical discharges---'> , lntracranial bleeding; perinatal hypoxia,
disordered awareness, behavior, ischemia; ischemic stroke
movement • Systemic disorders
0---'> too much excitatory, too little , Uremic encephalopathy, hepatic
inhibitory activity encephalopathy, electrolyte imbalances,
hypoglycemia, thiamine deficiency,
vitamin 812 deficiency
CAUSES
• Many unknown causes; some known Nonepileptic seizures
causes (e.g. brain infection): • ---'> fainting spell, psychological conditions,
O j excitation: long-lasting/fast activation stress, not epileptic brain activity
of NMDA receptor via glutamate
0 ! inhibition: genetic mutations ---'>
dysfunctional GABA receptors ( s,_G_NS_&_S_Y_M_PT_O_M_
)
• Causation ---'> classification
• Subtle signs
Provoked seizures , Spacing out, unusual sensations, brief
• Triggers---'> abnormal brain activity; subside muscle jerks
once trigger removed • Life-threatening
• Medication , Generalized muscle contractions > five
O Aminophylline, bupivacaine, bupropion, minutes
butyrophenones
• Recreational drugs
O Amphetamines, cocaine, ( D_IA_GN_O_s,_s
__ )
methylphenidate, psilocybin, psilocin
• Alcohol consumption/ withdrawal DIAGNOSTIC IMAGING
• Flashing lights MRI/CT scan
O Photosensitive epilepsy • Detects structural brain abnormalities {brain
• Fever tumors or vascular disorders)
°Febrile seizures
Epileptic seizures LAB RESULTS

• Recurring, unpredictable seizures; brain • Electrolytes: blood glucose: complete
dysfunction ---'> abnormal brain activity; blood cell count; liver, renal function; serum
seizures triggered calcium; urinalysis
94
O Assess possible underlying infection, MNEMONIC: SICk DRIFT3R
genetic condition, metabolic disorder, Differential diagnosis for
other causes seizures
Substrates: sugar, oxygen
OTHER DIAGNOSTICS lsoniazid
Cations: Na, Ca, Mg
Electroencephalogram (EEG)
Kids: pregnancy/eclampsia
• Detects abnormal, epileptiform brain
Drugs
electrical activity
Rum: alcohol withdrawal
Clinical history Illnesses: chronic
• Assess type of seizure; differentiate Fever
between primary, secondary seizures Trauma
Neurological exams 3 "antis": antihistamine,

antidepressant,
• Assess behavior, motor abilities, mental
anticonvulsants
functions ----> underlying seizure cause, type
Rat poison
( T_R_E~_~_M_EN_T__ )
MEDICATIONS
Epilepsy
• Antiepileptic medication
O Depends on type of seizures, age,
lifestyle, and comorbidities
OTHER INTERVENTIONS
Provoked seizures
• Address trigger
ABSENCE SEIZURE
osmsJl:/ e1\>senee-sei2uTe
CAUSES
( PATHOLOGY & CAUSES ) • Cause e- abnormal neuronal activity
unknown
• Formerly called petit mal seizures
• Generalized seizure; brief loss of
awareness/responsiveness; sudden onset, COMPLICATIONS
termination; usually no postictal state • May progress into generalized tonic-clonic
• Most common in children; can occur seizures
50-100 times/day; often misdiagnosed as • Learning difficulties
inattentiveness, daydreaming • Behavior problems
95
(e.g. lip smacking, chewing motions, eyelid
flutters)
• Possible sign of coexisting seizure types
• No recollection of seizure
( D_IA_GN_o_s,_s __ )
DIAGNOSTIC IMAGING
MRI/CT scan
• To rule out brain abnormalities
OTHER DIAGNOSTICS
EEG
• Shows generalized spike-and-slow wave
discharges
Figure 75.1 An EEG taken from an individual
having an absence seizure. • Easily induced by hyperventilation (most
reliable test)
(__ s,_G_NS_&_S_Y_M_PT_O_M_s_) ( T_R_E~_~_M_EN_T__ )

• Sudden loss of awareness, responsiveness • Usually resolves as child ages
- from few seconds-half a minute
• Blank stare MEDICATIONS
• Preceding activity ceases
• Ends abruptly or followed by automatisms Anticonvulsant medication
• Valproic acid (drug of choice in case
of other coexisting types of seizures).
ethosuximide (only for absence seizures)
EPILEPTIC SEIZURE
osmsJl/epilep-lie-seizuTe
Generalized seizures
( PATHOLOGY & CAUSES ) • Affect both brain hemispheres
' Subcategories: tonic seizures, atonic
• Recurrent. unprovoked seizures - epilepsy
seizures. clonic seizures, tonic-clonic
symptoms
seizures. myoclonic seizures, absence
seizures
TYPES
Focal (partial) seizures CAUSES
• Affect one brain hemisphere • Seizures genetididiopathic
O Subcategories: Focal aware seizure; • Cerebrovascular disease
focal impaired awareness seizure , lntracranial bleeding; perinatal hypoxia,
96
ischemia; cerebrovascular insult • Tonic-clonic seizures
• Neurological disorder/illness O Tonic phase - muscles suddenly stiffen;
O Brain tumors, metastases; brain injury; clonic phase - muscles rapidly contract,
brain abscess; encephalitis; eclampsia; relax
Angel man syndrome; multiple sclerosis; • Myoclonic seizures
systemic lupus erythematosus O Short, one/multiple muscle twitches over
• Systemic disorders short time
O Uremic encephalopathy; hepatic • Absence seizures
encephalopathy; electrolyte imbalances O Loss of awareness/responsiveness;
(hypercalcemia, hyponatremia); staring spell
hypoglycemia, hyperglycemia; thiamine,
pyridoxine, vitamin 812 deficiency Generalized seizures often - postictal
state
• Confusion, drowsiness, sleepiness, total
COMPLICATIONS
amnesia for hours
• Injury - falling, drowning, car crash during
attack Todd's paralysis or paresis
• Pregnancy complications - seizures during • May follow; affects arms/legs, usually
pregnancy; - antiepileptic medication - limited to one side
teratogenic effects O Lasts about 15 hours; temporary, but
• Status epilepticus severe suppression of brain activity in
° Continuous seizure activity> five seizure-affected area
minutes - permanent brain damage,
death
• Sudden unexpected death in epilepsy ( D_IA_G_N_os_,s )
(SUDEP) - frequent tonic-clonic seizures,
inadequate antiepileptic treatment DIAGNOSTIC IMAGING
MRI/CT scan
(__ s,_G_NS_&_S_Y_M_PT_O_M_s_) • Detect structural brain abnormalities (brain
Focal seizures
• Focal aware seizure LAB RESULTS
O No awareness impairment; motor, • Electrolytes, blood glucose and calcium
sensory, autonomic, psychological levels
sensations • Assess possible underlying infection,
• Focal impaired awareness seizure genetic condition, metabolic disorder,
O May include automatisms (e.g. lip other causes
smacking, chewing, swallowing,
unpurposeful walking, etc.) OTHER DIAGNOSTICS
Generalized seizures • 2: two unprovoked seizures required for
epilepsy diagnosis
• Tonic seizures
O Sudden, continuous muscle EEG
contractions; causes falling, often
• Detect abnormal, epileptiform electrical
backwards
brain activity
• Atonic seizures
O Sudden muscle relaxation; causes Neurological exam
falling, often forwards • Assess behavior, motor abilities, mental
• Clonic seizures functions - underlying cause, type of
seizure
O Rhythmic muscle contractions
(convulsions)
97
, If unsure: broad spectrum
(..____ T_R_E~_~_M_EN_T
) anticonvulsants (effective for all types):
valproate, lamotrigine, topiramate
MEDICATIONS
Anticonv
ulsant medications SURGERY
• Depends on type of seizures, age, lifestyle, • Surgical resection in certain cases (e.g.
comorbidities brain tumors or vascular disorders)
° Focal epilepsy: lamotrigine,
oxcarbazepine, carbamazepine
O Generalized epilepsy: valproate,
lamotrigine, ethosuximide (only for
absence seizures)
FEBRILE SEIZURE
osmsJl/fe\>Tile-seizuTe
RISI( FACTORS
• Genetic susceptibility
• Triggered by fever • Age 6 months-5 years
• Exact mechanism unknown; proposed • Infections
explanations , Usually common infections, e.g. otitis
O r body temperature during fever e- r media
excitability of neurons
Hyperventilation during fever e- !
O
C02 levels-« respiratory alkalosis e- j C__ s,_G_Ns_&_s_v_M_PT_O_M_s

• High body temperature: >38° C/100.4° F
O r cytokine levels during fever e-
• Simple febrile seizure
enhancement of NMDA receptors----. l
O Presents as tonic-clonic seizures
O Tonic phase (muscles stiffen, go rigid) ----.
clonic phase (muscles rapidly contract,
TYPES relax) ----. convulsions
Simple febrile seizure (most common) n Followed by postictal state, residual
• Affects whole body (tonic-clonic seizures) arm/leg weakness
• Lasts < 15 minutes

• Does not repeat within 24 hours C D_IA_GN_O_SI_S
__ )
Complex febrile seizure
LAB RESULTS
• If 1/3 criteria met
O Affects specific body part corresponding
• Lumbar puncture to distinguish from other
to specific brain part
underlying causes of fevers, seizures (e.g.
O Lasts > 15 minutes
encephalitis, meningitis)
O Repeats within 24 hours
98
MEDICATIONS
( T_R_E~_~_M_EN_T
__ ) • Anticonvulsant
= Complex febrile seizures
• Simple febrile seizures usually resolve by
themselves • Antipyretic medications (ibuprofen,
acetaminophen)
• Fever management
FOCAL SEIZURE
osms.i"l/foee1l-sei2uTe
• Psychological symptoms
( PATHOLOGY & CAUSES ) • Sudden unusual feeling of sadness,
happiness, fear, anger; feelings of
• Seizure that initially stems from localized
derealization (environment is not real) or
brain region; limited to one hemisphere
depersonalization (dissociation from the
environment or self); feeling of deja vu
TYPES • Speech difficult/impossible
Focal aware seizure Focal impaired awareness seizure

• Affects small brain area • Impaired consciousness
• Individual awake. alert; remembers seizure • Often preceded by aura (symptoms of focal
aware seizure)
Focal impaired awareness seizure
• May involve automatisms (e.g. lip smacking,
• Unilaterally affects larger area of one chewing, swallowing. unpurposeful
cerebral hemisphere walking, etc.)
• Individual loses awareness. responsiveness; • Amnesia (no recollection of seizure)
does not remember seizure
• May develop into a secondary generalized
seizure (focal onset bilateral tonic-clonic
seizure) ( D_IA_GN_O_SI_S
__ )
DIAGNOSTIC IMAGING
MRI/CT scan
• Identify structural brain abnormalities (brain
Focal aware seizures
• Symptoms may be subtle. last ;:=: two
minutes. vary by affected lobe
O Preserved consciousness LAB RESULTS
• Motor symptoms • Blood tests
O Twitching, muscle jerking • Detect possible underlying infection,
genetic condition. metabolic disorder.
• Sensory symptoms
other causes
O Unusual auditory, gustatory, tactile,
olfactory sensations
O Sweating. piloerection. dilation of pupils.
incontinence. unusual feelings of nausea
99
OTHER DIAGNOSTICS
(..__ __ T_R_EA_~_M_EN_T
)
EEG
• Detect epileptiform, abnormal electrical MEDICATIONS
brain activity • Anticonvulsant medications
, E.g. lamotrigine, oxcarbazepine,
Neurological exam
carbamazepine
SURGERY
, E.g. brain tumors, vascular disorders -
surgical resection
MYOCLONIC SEIZURE
osms.i"l/ m14oelonie-seizu Te

• Type of generalized seizure; presents with • Brief body jerks; most commonly facial
myoclonus muscles, limbs
, Sudden, brief, involuntary muscle jerks • Preserved consciousness, recollection of
lasting 1-2 seconds seizure
• Epileptic; non-epileptic, e.g. physiologic
while falling asleep, waking up; myoclonic
jerks - nervous system disorders, ( 0_1A_GN_o_s1_s __ )
metabolic abnormalities, etc.
• Associated with epileptic syndromes: OTHER DIAGNOSTICS
, Juvenile myoclonic epilepsy EEG
, Progressive myoclonus epilepsy • Detect abnormal, epileptiform electrical
, Myoclonic epilepsy with ragged-red brain activity
fibers (MERRF)
, Lafora disease
, Unverricht-Lundborg disease (..____ T_R_EA_~_M_EN_T )
, Neuronal ceroid lipofuscinosis
MEDICATIONS
• Anticonvulsant medication
COMPLICATIONS °Clonazepam, valproate, levetiracetam;
• May become generalized tonic-clonic carbamazepine, oxcarbazepine,
seizures pregabalin, others contraindicated
100
STATUS EPILEPTICUS
osms.i"l/ s-lo.-lus-epilep-lieus
rigid), followed by clonic phase (muscles
( PATHOLOGY & CAUSES ) rapidly contract, relax) - convulsions
• NCSE
• Medical emergency involving one acute
O Prolonged/repeated absence or focal
prolonged seizure ::::: five minutes or multiple
impaired awareness seizure
seizures occurring close together without
recovery between O Long-lasting stupor, staring;
unresponsiveness
TYPES
• Convulsive status epilepticus (CSE) ( D_IA_GN_O_SI_S
)
• Nonconvulsive status epilepticus (NCSE)
• Continuous seizure lasting > five minutes
or recurrent seizures without regaining
CAUSES consciousness in between them for> five
• Epilepsy minutes
O Usually triggered by medication change/
inadequate treatment
• Alcohol consumption/fasting while on
DIAGNOSTIC IMAGING
anticonvulsant MRI/CT scan
• Acute cerebral injury • Detect structural brain abnormalities
• Brain disorders
O Brain tumors, brain injury, brain abscess,
LAB RESULTS
encephalitis
• Identify underlying cause
• Systemic process/illness
O Uremic encephalopathy, hepatic
encephalopathy OTHER DIAGNOSTICS
• Cerebrovascular disease EEG
O lntracranial bleeding, cerebrovascular • Detect abnormal, epileptiform electrical
insult brain activity
• Eclampsia
)
• Delayed treatment - irreversible
neurological damage
MEDICATIONS
• Immediate application of benzodiazepines
• Prolonged muscle activity - hyperpyrexia,
followed by antiseizure drug phenytoin
acidosis
• If uneffective
, Valproic acid, phenobarbital, propofol, or
) ketamine
• CSE OTHER INTERVENTIONS

O Prolonged/repeated tonic-clonic • Oxygen, intravenous fluids
seizures
O Tonic phase (muscles stiffen and go
101
TONIC-CLONIC SEIZURE
osms.i"l/-lonie-elonie-seizure

)
• Formerly called grand mal seizure DIAGNOSTIC IMAGING
• Characterized by tonic (rigid) stage and
MRI/CT scan
clonic (convulsion) stage
• Detect structural brain abnormalities (brain
• Most common seizure type
• May occur as one or multiple episodes as
part of epilepsy disorder
• Can initiate in both brain hemispheres LAB RESULTS
(generalized tonic-clonic seizure) or initiate • Electrolytes; blood glucose, calcium levels
in one and spread to both (focal to bilateral , Identify possible underlying infection,
tonic-clonic seizure) genetic condition, metabolic disorder,
• Episode > five minutes - status epilepticus other causes
OTHER DIAGNOSTICS
)
EEG
• May be preceded by unusual sensations, • Detect abnormal epileptiform electrical
e.g. visual, auditory, olfactory hallucinations; brain activity
dizziness (called an aura)
• Characterized by two phases
O Tonic phase: rigid, stiffening muscles; C T_R_E~_~_M_EN_T
__ )
contracting chest muscles - cry/groan;
biting of tongue, cheeks MEDICATIONS
O Clonic phase: muscles rapidly, • Antiepileptic medication
rhythmically contract, relax; elbows, , Valproate, lamotrigine, topiramate,
hips, knees bend, relax; urinary/fecal phenytoin
incontinence
• Tonic-clonic seizure - postictal state
SURGERY
°Confusion, drowsiness, sleepiness. total
• Surgical resection for brain tumors, vascular
amnesia for hours after seizure
disorders
• May be followed by Todd paralysis/paresis
for minutes-hours following seizure
102
NOTES

c PATHOLOGY & CAUSES ) ( DIAGNOSIS )
• Ocular disorders with infectious, DIAGNOSTIC IMAGING
noninfectious etiologies----. inflammation, • Fundoscopy
damage to eye structures
CT scan/MRI
• Orbits, sinuses
RISI( FACTORS
• lmmunocompromised state, contact with
infectious agent, ocular trauma, certain LAB RESULTS
systemic diseases • Giemsa/Gram stains; cultures
COMPLICATIONS OTHER DIAGNOSTICS

• Range from benign, self-limiting to vision- • Snellen chart
threatening infections
c SIGNS & SYMPTOMS ) c

MEDICATIONS
TREATMENT )
• Structural damage, functional impairment • Antimicrobials
OTHER INTERVENTIONS
• Address comorbidities
103
CHALAZION
osmsJl:/ eho.lo.zion
may demonstrate diffuse inspissation of
( PATHOLOGY & CAUSES ) yellowish contents from eyelid margin
orifices
• Firm, painless lipogranulomatous
inflammatory lump in eyelid; caused by
blockage of ocular sebaceous glands
O Deep chalazion: inflammation of
meibomian sebaceous glands
O Superficial chalazion: inflammation of
Zeis sebaceous glands
• Gland obstruction - impissation
(decreased flow of secretions) -
granulomatous inflammatory response -
lipogranuloma inflammation - lesion forms
on upper (most common)/lower eyelid
• Slow growing; may persist for weeks/
months; deeper within eyelid than
hordeolum (stye)
RISI( FACTORS Figure 76.1 A chalazion of the left upper

• Rosacea, seborrhea, blepharitis, inflamed eyelid.
hordeolum
COMPLICATIONS
• If large chalazion presses on cornea -
visual changes
• Recurring chalazion: may signal carcinoma
(rare)
(.___s,_G_NS_&_S_Y_M_PT_O_M_s
)
• Eyelid erythema; swelling; firm, nodular,
rubbery consistency
of a chalazion. There is granulomatous
( D_IA_GN_O_s,_s
__ ) inflammation with giant cells, numerous
macrophages as well as neutrophils and
OTHER DIAGNOSTICS eosinophils surrounding a nidus of lipid.
• Histological examination: chalazia may
indicate eyelid carcinoma
Slit-lamp
• Determine status of meibomian glands;
104
OTHER INTERVENTIONS
( T_R_E~_~_M_EN_T
) • Warm, wet compresses encourage
drainage
MEDICATIONS
• Ocular cleansing pads applied to eyelid
• Recalcitrant chalazia: intralesional steroid
margin
injection
• Treat comorbidities (e.g. blepharitis,
rosacea)
SURGERY • Small chalazion may resolve on own
• Recalcitrant chalazia: incision, curettage
CHORIORETINITIS
osmsJl/ehoTioTe-lini-lis

• Inflammation of choroid, retina; AKA • Floaters (vitritis). blurred vision, impaired
posterior uveitis color/night vision, ocular pain, photophobia,
excessive lacrimation
CAUSES
Infectious ( D_IA_G_N_OS_IS)
• Bacterial: tuberculosis, syphilis
• Viral: cytomegalovirus, West Nile virus,
DIAGNOSTIC IMAGING
herpes simplex virus (HSV) 1 Fluorescein angiography
• Parasitic: toxoplasmosis, onchocerciasis • Irregularities
• Fungal: Candida albicans
Fundoscopy
Noninfectious • Creamy white/yellow/gray lesions; keratic
• Sarcoidosis, Behest's disease, traumatic precipitates; retinal edema, necrosis;
chorioretinitis chorioretinal atrophy, neovascularization;
cotton-wool infiltrates (Candida-associated
chorioretinitis); polymorphic retinochoroidal
RISI( FACTORS scars (toxoplasmosis-associated
• Immunodeficiency, contact with infectious
chorioretinitis)
agent, traumatic eye injury, systemic
disease associated with chorioretinitis
OTHER DIAGNOSTICS
COMPLICATIONS
• Retinal hemorrhage/detachment, visual
impairment with macular involvement
C T_R_E_AT_M_E_N_T
__ )
MEDICATIONS
• Corticosteroids/antimicrobials
105
Figure 76.3 A retinal photograph displaying
the features of chorioretinitis. There are
numerous, patchy, cream-colored lesions and
retinal edema.
CONJ"UNCTIVITIS
osms.i"l/ eonjune-livtlis
• Common causes: Staphylococcus aureus,
( PATHOLOGY & CAUSES ) Streptococcus pneumoniae, Haemophilus
influenzae
• Inflammation of conjunctiva, transparent
• Hyperacute bacterial conjunctivitis
mucous membrane covering inside of
= Causes: Neisseria gonorrhoeae (most
eyelids (tarsal conjunctiva), globe (bulbar
common)/Neisseria meningitidis
conjunctiva)
= Oculogenital disease: usually
= Non-keratinized epithelium containing
transmitted from genitals to eyes via
goblet cells, highly vascularized
hands
substantia propria
O Vision-threatening
= Turns pink/red when inflamed: diffuse
conjunctiva! injection • Chlamydia!
• Infection, inflammation----> dilatation = Caused by Chlamydia trachomatis
of conjunctiva! vessels ----> conjunctiva I = Adult inclusion conjunctivitis: chronic,
hyperemia, edema ----> inflammatory indolent
discharge O Trachoma: infectious blindness cause
worldwide; active trachoma caused
by serotypes A, B, Ba, C (low-income
TYPES
country-endemic, mostly in children):
Infectious (bacterial) initial follicular inflammation progresses
in severity----> cicatricial disease, vision
• Highly contagious; spread by direct contact
loss
106
Infectious (viral) • Infected eye "stuck" shut from morning
• Highly contagious; spread by direct contact crusting; gritty, burning sensation (viral);
• Causes: adenovirus (most common), HSV itching (allergic); photophobia (corneal
(in children), varicella zoster virus (VZV) involvement); transient visual impairment
O Ocular manifestation of systemic • Preauricular lymphadenopathy
infection
O Epidemic keratoconjunctivitis (EKC):
caused by adenovirus 8, 19, 37;
fulminant conjunctivitis, keratitis
(epithelium of conjunctiva. cornea);
corneal inclusions degrade visual acuity
Noninfectious (allergic)
• Caused by airborne allergens (seasonal,
perennial)
• lmmunoglobulin E (lgE)-mediated----> local
mast cell degranulation
Figure 76.4 The clinical appearance of
Noninfectious (nonallergic) conjunctivitis.
• Caused by mechanical/chemical insult
RISI( FACTORS ( D_IA_GN_O_SI_S __ )

• Exposure to causative agent,
immunocompromised state, atopy (allergic LAB RESULTS
conjunctivitis) • Adenoviral conjunctivitis: rapid point-of-
• Contact lens wear: common source of care adenovirus antigen test
mechanical injury, nonallergic, infectious • Recalcitrant conjunctivitis: conjunctiva!
conjunctivitis biopsy (rule out neoplasm)
Giemsa/gram stains
COMPLICATIONS • Confirm identity of organism in suspected
• Cornea: keratitis (inflammation), ulcer, infectious cause
perforation, scarring
• Dacryocystitis (bacterial infection of lacrimal
sac)
OTHER DIAGNOSTICS
• Vision loss
( s,_G_Ns_&_s_v_M_PT_O_M_s _....) ( __ T_R_E~_~_ME_N_T__ )

• Appearance: unilateral/bilateral
MEDICATIONS
inflammation; pinkish-red eye; eyelid • Ocular lubricant drops/ophthalmic ointment
edema; chemosis (conjunctiva! edema); • Allergic conjunctivitis: antihistamine drops
excessive lacrimation • Adult inclusion conjunctivitis: systemic
• Discharge therapy to eradicate Chlamydia infection
O Bacterial: purulent/mucopurulent; white/ (antibiotics)
yellow/green • Bacterial conjunctivitis: Topical antibiotic
O Gonococcal: hyper-purulent, profuse drops/ointment
O Viral: watery; stringy • Epidemic keratoconjunctivitis (EKC): topical
glucocorticoids
O Allergic: watery, mucoid
O Nonallergic: mucoid
107
OTHER INTERVENTIONS
• Warm, wet compresses encourages
drainage
• Hyperacute conjunctivitis, EKC: immediate
specialized ophthalmologist referral
• Viral conjunctivitis: self-limiting; usually
resolves in 2-3 weeks
l(ERATITIS
osms.i-l/lce,-o.·tJlis
• lmmunocompromised state
( PATHOLOGY & CAUSES ) • Topical (ocular) corticosteroid use
• Contributing disorders: rosacea;
• Cornea inflammation ----. corneal tissue
keratoconjunctivitis sicca (dry eye
destruction
syndrome); neurotrophic keratitis (lesion on
• Inflammatory response----. stromal damage
cranial nerve VJ; autoimmune diseases (e.g.
from infection, host response ----. edema.
rheumatoid arthritis, cicatricial pemphigoid)
infiltrates, necrotic ulceration, focal thinning,
perforation
COMPLICATIONS
• Endophthalmitis (interior eye inflammation),
CAUSES
intraocular damage, vision loss, keratolysis
Infectious (corneal melting)
• Bacteria: Staphylococcus aureus,
Pseudomonas aeruginosa. coagulase-
negative Staphylococcus, diphtheroids, (__ SI_G_NS_&_S_Y_M_PT_O_M_
Streptococcus pneumoniae
• Erythema
• Viruses: HSV. herpes zoster
• Preauricular lymphadenopathy
• Fungi: Candida supp., Aspergillus supp.,
Fusarium supp. • Discharge: mucopurulent (bacterial). watery
(viral)
• Parasites: Acanthamoeba
• Corneal opacity, stromal infiltrate (immune
Noninfectio
us complex deposits). ulcer
• Corneal inflammation with no known , Bacterial keratitis: yellow infiltrates
infectious etiology , Fungal keratitis: white infiltrates,
feathery borders
RISI( FACTORS , Acanthamoeba: Wessely ring infiltrate
• Corneal epithelium disruption • Hypopyon (layer of white cells in anterior
°Contact lenses (contact lens-related chamber): fulminant bacteria
keratitis); esp. improper use (e.g. • Foreign body sensation; difficulty keeping
overnight wear, poor hygiene) eye open; photophobia; pain; decreased
visual acuity, blurred vision; blepharospasm
O Recent keratoplasty, trauma. corneal
exposure (e.g. Graves' ophthalmopathy,
Bell's palsy)
108
Penlight
• Visualizes infiltrate/ulcer(> 0.5mm); round,
white spot (bacterial keratitis)
Fluorescein dye
• Corneal uptake of dye
O Visualize loss of epithelial cells,
ulceration
O Green glow under cobalt blue light
Figure 76.5 An individual with sterile keratitis
O Diffuse white opacity/dull corneal light
of the left eye.
reflex
O Seidel sign (leaking aqueous humor
- fluorescein streaming): penetrating
( D_IA_GN_O_SI_S
__ ) trauma
DIAGNOSTIC IMAGING Snellen chart

• !visual acuity
Fundoscopy
• Slit beam; examine contour abnormalities of
cornea, lens. retina; small corneal infiltrates; ( T_R_E_AT_M_E_N_T __ )
faint branching grey opacity (viral keratitis)
MEDICATIONS
LAB RESULTS • Topical antimicrobials for infectious etiology
• Corneal scrapings, cultures: suspected

infectious etiology OTHER INTERVENTIONS
• Control of associated comorbidities
OTHER DIAGNOSTICS • Temporary discontinuation of wearing
• Clinical history, physical examination contact lenses
ORBITAL CELLULITIS
osmsJl/ or\,i-lC1l-eellultlis
RISI( FACTORS
( PATHOLOGY & CAUSES ) • More common in children
• Migration from other infections
• Serious infection involving contents of orbit
(ocular muscles, surrounding fat; not globe)
OBacterial rhinosinusitis: Staphylococcus
aureus. streptococci (common); fungal
rhinosinusitis (rare)
CAUSES O Dacryocystitis: lacrimal sac infection
• Entry of microorganisms into orbital space O Infected mucocele: mucus-containing
O Via anatomical perforations of nerves, cystic lesion of salivary gland
blood vessels in paranasal sinuses (e.g. O Infections involving teeth, middle ear.
ethmoid)
face
O Migration from surrounding tissues (e.g.
• Direct inoculation: ophthalmic surgical
face, eyelids) after local trauma/surgery procedures; orbital trauma with fracture/
O Inflammatory response - tissue foreign body
destruction
109
COMPLICATIONS LAB RESULTS
• Extraorbital extension: epidural/subdural
Complete blood count (CBC)
empyema; brain abscess; meningitis;
cavernous sinus thrombosis; dural sinus • Leukocytosis; l absolute neutrophil count
thrombosis; involvement of cranial nerves (ANC)
Ill, IV, V, VI; optic neuritis
Blood/orbital/subperiosteal aspirates cul-
• Endophthalmitis: interior eye inflammation tures
• Vision loss • Identify causative organism
• Potentially fatal if sepsis develops
OTHER DIAGNOSTICS
(__ s,_G_NS_&_S_Y_M_PT_O_M_s_) • Clinical history, physical examination
• Ocular motility: pain with movement
Systemic • Pupillary light reflex: sluggish/absent reflex
• Fever; severe headache, vomiting, mental ----. optic nerve involvement
status changes (intracranial complications) • Exophthalmometry: measures degree of
proptosis
Ocular
• Asses color vision acuity: determines optic
• Red, swollen eyelids; chemosis nerve involvement
(conjunctival edema); pain (esp. with eye
• lntraocular pressure measurement (t)
movement); ophthalmoplegia (paralysis
of eye muscles); proptosis (abnormal
displacement of eye); impaired visual acuity,
color vision; abnormal pupillary light reflex
( T_R_E~_~_M_EN_T__ )
MEDICATIONS
( D_IA_GN_O_s,_s __ ) • Antimicrobials

• External (through orbit)/endoscopic
CT scan/MRI
transcaruncular approach
• Orbits, sinuses; detects abscess,
intracranial changes
Dilated fundoscopy
• Determines optic neuropathy/retinal
vascular occlusion
110
111
PERIORBITAL(PRESEPTAL)
CELLULITIS
osmsJl/ pe,-(o,-\,i-lal-celluli-lis

• Mild infection of superficial tissues of • Ocular pain, eyelid swelling, erythema,
anterior eyelid (tissues anterior to orbital fever, lymphadenopathy
septum); more common than orbital
cellulitis
( D_IA_GN_O_s,_s
__ )
• Introduction/migration of microorganisms
into preseptal space: Staphylococcus Contrast-enhanced CT scan (orbits, sinus-
aureus, Streptococcus pneumoniae, other es)
streptococci, anaerobes • Distinguishes between preseptal, orbital
cellulitis; associated sinusitis
RISI( FACTORS
• More common in children LAB RESULTS
• Migration from other infections: sinusitis;
upper respiratory tract infection; CBC
dacryocystitis; bacteremia (rare) • Leukocytosis
• Direct inoculation: trauma (e.g. insect bites,
Cultures (abscess contents, paranasal sinus
animal bites, introduction of foreign bodies);
secretions)
ophthalmic surgical procedures
• Identify causative agent
COMPLICATIONS
OTHER DIAGNOSTICS
• Orbital cellulitis
( T_R_E~_~_M_EN_T
__ )
MEDICATIONS
• Oral antibiotics
Figure 76.6 An individual with left-sided

periorbital cellulitis.
112
STYE (HORDEOLUM)
osms.i"l/s-l14e
( PATHOLOGY & CAUSES ) (__ SI_G_NS_&_S_Y_M_PT_O_M_s

)
• Blockage, purulent inflammation of upper/ • Tenderness; fluctuant pustule; localized
lower eyelid swelling, erythema; excessive lacrimation;
photophobia
CAUSES
• Sterile/bacterial (e.g. Staphylococcus ( D_IA_GN_O_SI_S
)
aureus, Staphylococcus epidermidis)
Internal
DIAGNOSTIC IMAGING
• Meibomian sebaceous gland; points toward Slit lamp, fundoscopy
conjunctiva I side of lid---'> conjunctiva! • Determine infection extension to other
inflammation tissues
External
• Zeiss/Moll sebaceous glands; points toward OTHER DIAGNOSTICS
skin surface of eyelid • Clinical history, physical examination
• Visual acuity assessment
RISI( FACTORS
• Touching eyes with contaminated hands,
chronic blepharitis, seborrhea, improper ( T_R_E~_~_M_EN_T
__ )
contact lens hygiene, sleeping with eye
makeup, immunocompromised state MEDICATIONS
• Topical antibiotic ointment
COMPLICATIONS
• Hardens v- chalazion SURGERY
• Incision, curettage: if progresses to
chalazion
OTHER INTERVENTIONS
• Warm compresses encourage drainage
• Usually self-limiting with spontaneous
resolution
Figure 76.7 A stye on the right lower eye

lid.
113
Acute Chronic
Usually infectious Noninfectious
Internal styc Deep chalazion

- Involves meibomian gland - Involves meibomian gland
- Lesion points toward
conjunctiva! side of lid Superficial chalazion
- Involves Zeis glands
External stye
- Involves Zeiss/Moll glands Lesions are deeper than hordcolum
- Lesion points toward skin
surface of eyelid
Yes No; possible mild tenderness
Purulent Lipogranulomatous
Small, fluctuant Large. firm, rubbery, nodular
Self-limiting with May wax, wane; often lasts

spontaneous drainage for months
May evolve into chalazion if

May be sign of eyelid carcinoma
healing compromised
UVEITIS
osms.tl/ uvei-lis
TYPES
(....__P_AT_H_Ol_O_G_Y_&_C_AU_S_E_s_)
Anterior (most common)
• Inflammation of uveal tract (choroid, ciliary • Anterior uveal tract; iritis, iridocyclitis
body, iris); unilateral/bilateral (inflammation of ciliary body)
• Onset: rapid/insidious
Panuveitis
• Course: acute/recurrent/chronic
• Anterior chamber, vitreous body, retina/
• Duration: persistent (> three months)/
choroid
limited (s three months)
Posterior uveitis
• Retina/choroid
114
Intermediate uveitis LAB RESULTS
• Vitreous body; chorioretinal inflammation
Microscopy, cytology, culture, polymerase
chain reaction (PCR)
CAUSES • Fluid sampling/biopsy; identify presence of
• Bacterial: tuberculosis, syphilis infectious agent
• Viral: cytomegalovirus, HSV
• Fungal: candidiasis, Pneumocystis jirovecii OTHER DIAGNOSTICS
• Parasitic: Acanthamoeba, toxoplasmosis • Clinical history, physical examination
• Noninfectious systemic: Crohn's disease,
ankylosing spondylitis Snellen chart
• Conditions confined to eye: trauma, acute • !visual acuity
retinal necrosis
Pupillary light reflex
• Sluggish pupillary reaction to light -
RISI( FACTORS synechiae
• Systemic infectious, inflammatory
conditions lntraocular pressure
• No change if uncomplicated uveitis; j in
acute uveitis-induced glaucoma
COMPLICATIONS
• lntraocular hypertension, glaucoma;
increased intraocular pressure; posterior ( T_R_E~_~_M_EN_T__ )
synechiae (iris adheres to lens); band
keratopathy (corneal calcium deposits); MEDICATIONS
cataract; vision loss
• Corticosteroids: topical, local injection,
implantable, systemic
• Recalcitrant uveitis: immunomodulatory
(__ s,_GN_S_&_S_Y_M_PT_O_M_s_) agents (if corticosteroid response
inadequate)
• Ocular erythema
• Recalcitrant uveitis: tumor necrosis factor
• Impaired vision
(TNF) inhibitor (if resistant to treatment)
• Pain, photophobia, vision distortion, floaters
• Posterior synechiae prevention: mydriatid
(vitritis), photopsia (flashing lights)
cycloplegic medications
• Viral-associated uveitis: antivirals
( D_IA_GN_o_s,_s __ )
DIAGNOSTIC IMAGING
Fluorescein/indocyanine green angiography
(posterior uveitis)
• Evaluate status of retinal vascular
circulation; identify choroidal disease
Fundoscopy
• Ciliary flush: perilimbal redness
• Keratic precipitates: inflammatory deposits
on cornea
• Hypopyon: white blood cells settle on
bottom of anterior chamber
Figure 76.8 An individual with a hypopyon
• Haziness of aqueous humor: protein
of the left eye as a result of severe anterior
accumulation
uveitis.
115
NOTES
NOTES
• • GLOBE PATHOLOGY
( PATHOLOGY & CAUSES ) ( T_R_EA_:T_M_EN_T
)
• Disorders affecting eye structures; if MEDICATIONS
untreated - severe visual impairment • Corneal ulcer
• Due to damage to cornea, retina. lens, optic , Antimicrobial, steroid eye drops;
nerve analgesics
• Inherited/acquired • Age-related macular degeneration (ARMD)/
diabetic retinopathy (DR)
COMPLICATIONS O lntravitreal injections of vascular
endothelial growth factor (VEGF)
• Impaired vision, blindness
antagonists
• Glaucoma
) Beta blockers, O alpha agonists
• Early stages often asymptomatic SURGERY

• Visual changes • Cataract
, Small incision; removal of opacified lens
( D_IA_GN_o_s,_s) , Alternative: leaving lens capsule intact
DIAGNOSTIC IMAGING
• DR
Direct/indirect fundoscopy O Laser photocoagulation of peripheral
• Visualize retina retina, vitrectomy
• Glaucoma
OTHER DIAGNOSTICS O Laser surgery, trabeculectomy,
• Clinical presentation: history; visual acuity, peripheral iridotomy
field loss
Slit lamp
OTHER INTERVENTIONS
• ARMD
• Visualize sclera, conjunctiva. iris. lens.
, Vitamin, antioxidant supplements;
cornea
smoking cessation
• DR
, Glucose. blood pressure control
116
AGE-RELATED MACULAR
DEGENERATION (ARMD)
osmsJl/ maeula,--degene,-a-lion
hyperlipidemia
• Acquired degenerative disease of macula COMPLICATIONS
- loss of central vision; peripheral vision • Severe visual impairment: impacts
preserved; most common cause of severe functional status, quality of life; complete
visual impairment in older adults in high- loss of vision rare
income countries
• Results from damage to photoreceptors of
macula (..___s,_G_NS_&_SY_M_PT_O_M_s
)
• Unilateral/bilateral; contra lateral eye at high
risk • Early stages: often asymptomatic; blurred
vision; metamorphopsia (straight lines seen
curved)
TYPES • Loss of central vision; gradual progression
in nonexudative, rapid over weeks/months
Nonexudative ARMD
in exudative
• AKA dry/atrophic; most common
• Drusen: extracellular deposits between
Bruch membrane, retinal pigment (..____ D_IA_GN_O_s,_s)
epithelium (RPE)
O l size, number of soft drusen - l risk of DIAGNOSTIC IMAGING
progression to advanced ARMD
• RPE changes: geographic atrophy, Fluorescein dye retinal angiography
detachments, subretinal clumping • Fluorescein leaks from abnormal vessels
Exudative ARMD Optical coherence tomography

• AKA wet/neovascular; less common • Retinal edema/subretinal fluid
• Neovascularization: abnormal vessel
Amsler grid
formation under retina originating from
• Individual holds grid at 36-41cm/14-16in,
choroidal circulation, penetrating through
looks at center dot
Bruch membrane beneath RPE - leakage
of serous fluid, blood - collections, fibrosis • Curvy lines, blurry spots, scotomas
RISI( FACTORS • Nonexudative ARMD
• j age; > 65 most common • Drusen: white-yellowish, round/oval
• Family history: associated with deposits
polymorphisms in complement regulatory O Retinal atrophy: round patches of
genes, esp. complement factor H (CFH) depig mentation
• More common in individuals who are O RPE clumping: increased pigmentation
biologically female, white people of
• Exudative ARMD
Ashkenazi Jewish descent
• Neovascularization: gray discoloration
• Smoking, intense light exposure, heavy
O Subretinal fluid/hemorrhage
alcohol use, obesity, hypertension,
117
OTHER DIAGNOSTICS
• Clinical presentation: history; ! visual
acuity, visual fields (central vision loss)
( T_R_EA_~_M_EN_T__ )
MEDICATIONS
• Exudative ARMD
O lntravitreal injections of
VEGF antagonists to reduce
neovascu la rization
O Alternative: photodynamic therapy;
injection of photosensitive dye
verteporfin - damages neovascular
endothelium; application of photo- Figure 77.1 Drusen in the macula of individual
activating laser with age-related macular degeneration.
OTHER INTERVENTIONS
• No curative method; therapy aimed at
slowing progression
• Vitamin, antioxidant supplements
• Nonexudative ARMD
O Smoking cessation
CATARACT
osms.i"l/eC1-lC1TC1et
nucleus (cortex)
( PATHOLOGY & CAUSES ) • Mild degradation of vision
• Painless, gradual decline in vision due to Posterior subcapsular

opacification of lens • Opacification in posterior cortical layer
• Proteins deposit on lens - reduce under lens capsule
transmission of light to retina - decrease • Rapid progression
in vision
• Often bilateral but asymmetrical; congenital/
acquired RISI( FACTORS
• Age-related cataract; usually> 60
• Smoking, excessive alcohol use, prolonged
TYPES drug use (esp. glucocorticoids), exposure to
Nuclear UV light, eye trauma/infections, radiation of
intraocular tumor, trisomies (13, 18, 21)
• Opacification of lens nucleus
• Metabolic diseases: diabetes mellitus,
• Slow progression of vision loss
Wilson disease, galactosemia, myotonic
Cortical dystrophy
• Opacification of lens fibers surrounding
118
COMPLICATIONS
• Blindness (if untreated) (__ SI_G_NS_&_S_Y_M_PT_O_M_s_)
• Secondary posterior subcapsular cataract
• Painless visual impairment; progresses
due to migration of lens epithelium
slowly over many years
posterior cortical layer
• Myopic shift: improvement in
Secondary glaucoma nearsightedness before decline in vision;
• Phacolytic lens sclerosis ----. increase in refractive
power
O Lysed lens proteins clog trabecular
meshwork ----. t pressure • Blurry vision, poor vision at night, dullness
of colors
• Phacoanaphylactic
• Glare, halos around bright lights;
O Autoimmune reaction to proteins----. j
predominant in cortical cataract
pressure
• Phacomorphic
O Swollen lens e- closed angle glaucoma (.____ D_IA_GN_O_SI_S
__ )
Surgery
DIAGNOSTIC IMAGING
• Residual lens epithelial cells migrate over
capsule----. opacification, reduction in vision Slit lamp
• Endophthalmitis, bullous keratopathy, • Loss of lens transparency
intraocular lens dislocation, cystoid macular
edema, retinal detachment Indirect/direct fundoscopy
• Toxic anterior segment syndrome • Degree of lens opacity
O Inflammation of anterior segment due to • Obscuration of fundus details
noninfectious contaminants of surgical • Darkening of normal red reflex from fundus
equipment
OTHER DIAGNOSTICS
( T_R_EA_:l"_M_EN_T
__ )
SURGERY
• Small incision
Phacoemulsification
O of lens,
implantation of synthetic intraocular lens
• Removal of opacified lens (alternative)
O
Leaving lens capsule intact
Figure 77.2 The eye of a 50-year-old male
with a cataract.
119
CORNEAL ULCER
osms.i"l/ eoTnee1l-uleeT
( PATHOLOGY & CAUSES ) ( T_R_EA_:l'_M_EN_T

)
• Inflammatory condition of cornea; usually MEDICATIONS
intecttous-« dissolution of corneal stroma • Antimicrobial eye drops
• Presents as open corneal sore • Analgesics for pain control
• AKA ulcerative keratitis • Steroid eye drops after treatment of
• Exudate, cells leak into anterior chamber v- infection to reduce swelling, prevent
form hypopyon if sufficient quantity scarring
CAUSES SURGERY
• Bacteria, fungi, viruses (esp. herpes • Corneal transplantation to replace damaged
simplex, zoster), protozoa (e.g. cornea if scarring decreases vision
Acanthamoeba)
RISI( FACTORS
• Improper usage of contact lens, corneal
abrasions, eye burns, xerophthalmia (i.e.
dry eye), eyelid disorders, steroid eye drops,
vitamin A deficiency
)
• Red eye, severe pain, soreness, discharge
(tearing, pus). eyelid swelling, blurred
vision, vision loss, photophobia
( D_IA_GN_O_SI_S
)
Figure 77.3 A corneal ulcer caused by herpes
DIAGNOSTIC IMAGING simplex keratitis viewed with fluorescein
• Slit lamp under a UV lamp. The ulcer has a classical
• Reveals corneal ulcer/hypopyon dendritic pattern.
• Fluorescein dye
O Ulcer margins (absorbed by exposed
corneal stroma, appears green)
• Herpes simplex ulcers
O Typical dendritidgeographic pattern
OTHER DIAGNOSTICS
120
DIABETIC RETINOPATHY (DR)
osmsJf:/ dia\,e-lic-Te-linopa-f:h14
microaneurysms, microocclusions,
( PATHOLOGY & CAUSES ) exudates, nerve-fiber layer infarcts (cotton
wool spots), intraretinal hemorrhage,
• Type of retinopathy affecting individuals macular edema
with diabetes mellitus - vision loss
• Long-standing diabetes mellitus/poor
glycemic control - chronic hyperglycemia
OTHER DIAGNOSTICS
- retinal vascular changes (e.g. abnormal • Ophthalmologic screening: annual
vascular permeability, vascular occlusions) screening suggested for individuals with
- ischemia - production of VEGF - diabetes
formation of abnormal blood vessels • Clinical presentation: !visual acuity
(neovascularization)
TYPES
Proliferative DR
• Presence of neovascularization
Nonproliferative DR
• Absence of neovascularization; majority
of cases; can progress to proliferative;
hypertension, fluid retention exacerbate
condition
COMPLICATIONS
• Visual loss due to
O Macular edema (most common); vitreal Figure 77.4 A retinal photograph
hemorrhage from neovascularization; demonstrating proliferative diabetic
retinal detachment; neovascular retinopathy. There are cotton wool spots and
glaucoma as well as neovascularisation of the retina.
)
(.____ T_R_EA_:T_M_EN_T
)
• Usually asymptomatic until late stages
• Decreased/fluctuating vision; presence
MEDICATIONS
of floaters. flashes of lights (photopsias); • lntravitreal VEGF inhibitors for proliferative
scotomas DR. significant macular edema
SURGERY
( D_IA_GN_O_s,_s) • Laser photocoagulation of peripheral retina
• Vitrectomy for vitreous hemorrhage/
DIAGNOSTIC IMAGING
severe proliferative DR nonresponsive to
Direct/indirect fundoscopy photocoagulation
• Thickening of basement membrane,
121
OTHER INTERVENTIONS
• Glucose, blood pressure control to reduce
progression of nonproliferative DR
GLAUCOMA
osms.i"l/ glo.ueomo.
family history
Closed angle
• Group of eye disorders; intraocular • I age, family history, biologically-female
hypertension damages optic nerve - individuals of Asian descent, hyperopia,
progressive peripheral visual field loss medications (e.g. mydriatic eye drops).
• Aqueous humour drainage pathway pseudoexfoliation
becomes partially/completely blocked -
fluid cannot easily drain out - pressure of
COMPLICATIONS
anterior chamber builds up - intraocular
hypertension (pressure> 21mmHg/2.8kPa) • If untreated, blindness
- affects eye structures - atrophy of outer
rim of optic nerve - peripheral vision loss
• lntraocular pressure increases - continued
damage to optic nerve - ganglion cell loss
Open angle
- loss of central vision
• Asymptomatic
TYPES Closed angle

• Chronic: often asymptomatic, peripheral
Open Angle Glaucoma
vision loss
• Angle between cornea, iris; most common
• Acute (ophthalmic emergency): abrupt
• Increased aqueous production/decreased onset of severe eye pain, redness, blurry
outflow vision/vision loss. headache, nausea, halos
• Secondary to uveitis, vitreous hemorrhage, around lights. fixed mid-dilated pupil,
retinal detachment conjunctiva! redness, corneal edema
Closed Angle Glaucoma

• Narrowing/closure of anterior chamber ( D_IA_GN_O_s,_s
__ )
angle - inadequate drainage of aqueous
humor - increased intraocular pressure - DIAGNOSTIC IMAGING
optic nerve damage
• Acute: rapid buildup of pressure Tonometry
• j intraocular pressure
Normal Tension Glaucoma
• Genetic hypersensitivity to intraocular Direct/indirect fundoscopy
pressures in normal range • Cupping: hollowed-out appearance of optic
nerve (thinning of outer rim)
• Increased cup-to-disc ratio; > 0.5
RISI( FACTORS
suggestive of glaucoma
Open angle
Slit lamp
• j age, black people of African descent,
• Special lens to visualize angle (gonioscopy)
122
OTHER DIAGNOSTICS O Open trabecular meshwork, increase
• Clinical presentation: history, I visual aqueous outflow (trabeculoplasty);
acuity, visual field (peripheral vision loss; destroy humor producing cells; create
central loss at late stages) new channel for aqueous humour
drainage
• Surgical trabeculectomy
( T_R_EA_~_M_EN_T__ ) n Create alternate drainage pathway
MEDICATIONS Acute closed angle

• Peripheral iridotomy with laser
Open angle O Small hole through iris for aqueous
• Beta-adrenergic receptor antagonists, humor drainage
carbonic anhydrase inhibitors, alpha
adrenergic agonists
0 ! production of aqueous humor
• Prostaglandin analogs, alpha adrenergic
agonists
O l outflow of aqueous humor
Acute closed angle
• Eye drops (e.g. beta-blockers, alpha
agonists); systemic (e.g. acetazolamide,
urea, mannitol, glycerol)
SURGERY
Open angle
• Laser surgery Figure 77.5 A photograph of the eye of an
individual with acute angle closure glaucoma.
There is ciliary flush and a hazy cornea.
RETINAL DETACHMENT (RD)

osms.l"l/Te-lino.1-de-lo.ehmen-l
TYPES
Rhegmatogenous
• Separation of retinal photoreceptors from • Most common
underlying retinal pigment epithelium • Full thickness retinal break - vitreous fluid
(RPE), choroid; if untreated leads - vision passes into subretinal space - retinal
loss detachment
• Detachment of neurosensory retinal • Causes
layer from underlying layers - ischemia, O Posterior vitreous detachment: most
progressive degeneration of photoreceptors
common, age 50-75, separation of
- vision loss
123
posterior vitreous membrane from retina • Tractional: smooth concave retinal surface;
due to natural age-related liquefaction minimal shifting with eye movements
of vitreous-« retinal breaks can occur in • Exudative: smooth retinal surface, shifting
areas of strong vitreoretinal attachment fluid
O Ocular trauma
Nonrhegmatogenous LAB RESULTS

• Vitreous traction • Diabetes: traction, exudative RD; find
underlying cause
O Abnormally strong vitreoretinal
adhesion ---'> contraction ---'> detachment;
proliferative diabetic retinopathy, OTHER DIAGNOSTICS
retinopathy of prematurity • Clinical history, physical examination
• Exudative
°Fluid accumulation between layers;
inflammatory conditions, choroidal (.____ T_R_EA_:T_M_EN_T__ )
neoplasms
SURGERY
• Laser photocoagulation/cryoretinopexy:
RISI( FACTORS
seal retinal breaks, prevent retinal
Rhegmatogenous detachment
• High myopia; lattice degeneration (thinning • Rhegmatogenous RD
of retinal periphery); family history; history = Pneumatic retinopexy: intraocular
of retinal detachment; ocular trauma; injection of gas to tamponade
previous intraocular surgery (e.g. cataract retinal break (along with laser or
surgery) cryoretinopexy)
= Scleral buckles: silicone
bands
COMPLICATIONS placed are sewed to sclera under
rectus muscles (along with laser or
• Vision loss, proliferative retinopathy
cryoretinopexy)
= Vitrectomy: removal of vitreous body to
( s,_G_NS_&_SY_M_PT_O_M_s_) reduce the effect of vitreous traction to
retina
• Sudden onset: floaters/flashes of light; if • Tractional RD
preceded by posterior vitreous detachment = Vitrectomy with scleral buckling
• Monocular vision loss: curtain drawn over
vision field
(.____ D_IA_GN_o_s,_s __ )
DIAGNOSTIC IMAGING
• ! visual acuity
Ocular ultrasound
• E.g. choroidal masses
• Traction. exudative RD; find underlying
cause
Direct/indirect fundoscopy axial plane demonstrating detachment of the
right retina.
• Rhegmatogenous: wavy appearance,
changes with eye movements. changes in
vessel direction
124
RETINOBLASTOMA
osmsJl/ l9e-l:ino\>lo.s-1:omo.
O Blood ----. lungs, bones, liver
( PATHOLOGY & CAUSES ) O Lymphatic vessels ----. conjunctiva,
eyelids, extraocular tissue
• lntraocular malignant tumor; affects
• Heritable retinoblastoma
children; presents as leukocoria
O Secondary malignancy (e.g. bone, soft
• Most common primary intraocular
tissue sarcomas)
malignancy of childhood; usually< two
years
• Associated with intracranial tumor
O Pinealoblastoma (trilateral
retinoblastoma)
• Mutational inactivation of both alleles of
retinoblastoma (RB1) gene located in
chromosome 13
TYPES
Heritable (40%)
• Germline mutations: inherited/de novo
• Presents at early age; bilateral/multifocal;
50% risk of passing to offspring
Nonheritable (60%)
• Somatic mutations in both alleles; negative
family history
• Presents later in life; unilateral Figure 77.7 The gross pathological
appearance of a retinoblastoma.
RISI( FACTORS
• Family history
• 13q 14 deletion syndrome
O Microdeletions in region 1 band 4
located in large arm (q) of chromosome
13
COMPLICATIONS
• Fatal if untreated; with prompt treatment,
survival > 95%
• Spreads via
°Choroid ----. sclera, orbit ----. destruction of
globe ----. vision loss
Figure 77.8 A child with retinblastoma
O Optic nerve----. brain causing whitening of the right pupil known as
O Subarachnoid space ----. contralateral leukocoria.
optic nerve, brain
125
)
• Leukocoria (abnormal white reflexion from
retina)
• Strabismus, nystagmus, red eye
(.._____ D_IA_GN_o_s,_s)
DIAGNOSTIC IMAGING
MRI (brain, orbits)
• T1 -weighted: bright
• T2-weighted: dark compared to vitreous
• Detect optic nerve involvement, associated
intracranial tumor
• Well-circumscribed, translucent, white
intraretinal mass
Ocular ultrasound Figure 77.9 An MRI scan of the head in the

• Normal globe size, calcification axial plane demonstrating a retinoblastoma of
the left globe.
LAB RESULTS
• Genetic testing
O Estimate risk in family members, future
offspring
OTHER DIAGNOSTICS
• Metastasis evaluation (e.g. bone marrow
aspiration, lumbar puncture)
C.._____ T_R_EA_~_M_EN_T
)
MEDICATIONS
• Local/systemic chemotherapy
O Preserve vision, optimize survival Figure 77.10 A retinoblastoma as seen on
fu ndoscopy.
SURGERY
• Cryopexy, laser photoablation, enucleation
O Preserve vision, optimize survival
126
RETINOPATHY OF PREMATURITY
osms.i"l/Te-1:inopa-1:h'4-of-pTe ma-I:uTi-l:'4
• Classification
( PATHOLOGY & CAUSES ) n Location: three concentric zones from
optic disc to periphery
• AKA retrolental fibroplasia
n Extent: retina divided in 12 parts (hours
• Proliferative retinopathy, occurs in preterm
of a clock)
infants; if untreated - vision loss
n Stage I: thin white demarcation line
• Common cause of childhood blindness
separating vascularized from avascular
• Premature birth interrupts development - retina
j risk of vascular insult
n Stage II: ridge of fibrous tissue into
• Supplemental oxygen administration - vitreous between vascularized.
disruption of normal angiogenesis - avascular retina
abnormal growth of blood vessels, fibrous
• Stage Ill: abnormal growth of
tissue affecting temporal part of retinal
fibrovascular tissue on ridge; extension
periphery
into vitreous
• Regress spontaneously in most cases
• Stage IV: partial retinal detachment
• Stage V: total retinal detachment
RISI( FACTORS • Plus disease: increased venous dilation,
• Gestational age < 30 weeks; birth weight tortuosity of posterior retinal vessels,
s 1.5kg/3.31bs; excessive oxygen therapy; vitreous haze
supplemental oxygen
OTHER DIAGNOSTICS
COMPLICATIONS • Screening of preterm infants
• Retinal bleeding. scarring
• Contraction of fibrovascular tissue - retinal
detachment - blindness (..____ T_R_EA_~_M_EN_T
__ )
• Refractive errors: myopia. anisometropia
• Squint/strabismus
MEDICATIONS
• lntravitreal injection of VEGF antagonists
• Glaucoma
SURGERY
(_~S_IG_N_S_&_S_YM_P_T_O_M_s
__ ) • Ablation of retina with laser
photocoagulation
• Blindness due to retinal detachment. if
untreated
(..____ D_IA_GN_O_s,_s)
DIAGNOSTIC IMAGING
Fundoscopy
• Direct/indirect following pupil dilation
o Disorganized growth of vessels. fibrous
tissue
127
Figure 77.11 A CT scan of the head in the axial
plane demonstrating increased density and
asymmetry of the globes in a one year old
biologically-female individual. The increase
in density is caused by retinal detachment
and subsequent fibrous reorganisation of the
vitreous.
128
NOTES
( PATHOLOGY & CAUSES ) • Fundoscopy (retinal hemorrhage),
neuro-imaging reveals characteristic
• External force to head - brain injury
intracranial injury (intracranial
(stretching, compression, impact, rotational)
hemorrhage, edema)
- cellular dysfunction
OTHER DIAGNOSTICS
(__ s,_G_NS_&_SY_M_PT_O_M_s
) • Concussion
• Mental-status change
• Consciousness loss
• Headache (~ __ TR_E_AT_M_E_N_T
)
• Irritability
• Lethargy SURGERY
• Vomiting
• Drain ventricle if needed
• Seizure
• Drain intracranial hemorrhage if required
( D_IA_G_N_OS_IS) OTHER INTERVENTIONS

• Mild injury
DIAGNOSTIC IMAGING • Rest
• Concussion
o Neuro-imaging rules out more extensive
• Monitor intracranial pressure (ICP)
injury
129
CONCUSSION
osms.i"l/ concussion
impact point----. brain injury at contact
( PATHOLOGY & CAUSES ) point
, Contrecoup injury: brain may collide
• AKA mild traumatic brain injury
with skull opposite initial impact sight
• Direct blow to head, face, neck, other body during rebound
part transmitting to head-« acute, mildly
• Torque injury
traumatic brain injury----. mental status
, Rotational force e- different rotational
alteration, potential consciousness loss
velocity dependent on variable distance
• Concussion alters cellular functioning
from rotation's center, differing grey/
O Physical trauma ----. nerve cell membrane white matter density----. neuron
disruption ----. intracellular ion migration stretching (more severe injury----.
(potassium, calcium) to extracellular shearing)
space----. unregulated glutamate release
, Brain regions most affected: midbrain,
----. depolarization
diencephalon
O Ion shifts at axon level/axonal rupture----.
, Injury disrupts normal cellular activity
disrupted cellular oxidative metabolism
in reticular activating system ----.
----. cell death=- functional disturbance
consciousness loss
----. temporary (normal function) brain
impairment
O Ion regulation loss e- j membrane pump RISI( FACTORS
activity (e.g. sodium-potassium ion • Biologically-male
channels) ----. l ATP. glucose utilization • Contact sport, cycling injury, combat-
O Paradoxical ! cerebral blood flow----. related traumatic brain injury (TBI)
cellular energy crisis e- susceptible t • Hospital-admission history (intoxication-
further injury related)
O Excitatory neurotransmitters released • Low socioeconomic status
(e.g. acetylcholine. glutamate. aspartate) • Lower cognitive function
+ free-radical generation generation ----.
secondary injury
O Initial j glucose utilisation ----. !
COMPLICATIONS
energy-use metabolic state; neuronal • Seizure. intracranial hemorrhage, skull
suppression may persist weeks post- fracture, dementia pugilistica, j further
injury concussion risk
• Second-impact syndrome (SIS)
, Further head injury (post-concussion
CAUSES
period) during ! blood supply----. rapid
• Traumatic head injury (e.g. motor vehicle
cerebral edema
crash, combat. contact sport)
• Postconcussive syndrome (PCS)
• Force transmission (head/body injury)
O Persistent post-concussive
----. diffuse neuronal-level brain injury----.
neurocognitive symptoms
temporary (reversible) brain-function
loss ----. mental status alteration. +l- • Repeated concussion v- t later-life risk
consciousness loss with little/no resultant of chronic traumatic encephalopathy
imaging change (tau protein accumulation in neurons
----. neuronal deatb -e brain atrophy),
• Coup-contrecoup injury
Parkinson's disease, depression
Coup injury: compressive force at
°
130
( SIGNS & SYMPTOMS ) Neuropsychological testing
• Assess functional impairment (also
assesses recovery)
• Develop after initial injury, may continue
O Standardized Assessment of
developing days afterwards
Concussion (SAC)
• Physical
O Post-Concussion Symptom Scale and
O Headache; dizziness; vomiting; nausea;
Graded Symptom Checklist
concussive convulsion (immediately
O Sport Concussion Assessment Tool
post-injury); light/sound sensitivity;
(SCAT5)
tinnitus; cranial nerve impairment
(extraocular muscle weakness, vertigo, O Westmead post-traumatic amnesia
nystagmus); incoordination scale
• Cognitive
Blunted affect, confusion, difficulty
(..____ T_R_E_AT_M_E_N_T )
O
focusing attention, consciousness loss,

pre-/post-traumatic amnesia, sleeping-
MEDICATIONS
pattern change, slow answering
• Analgesia
questions, memory deficit
• Paracetamol, NSAIDS
• Emotional
• Avoid narcotics (prevent further
O Irritability, anhedonia, tearfulness,
consciousness-clouding)
restlessness
OTHER INTERVENTIONS
( D_IA_G_N_OS_IS) • Physical, cognitive rest (1-2 days)---->
gradual full-function return
DIAGNOSTIC IMAGING • Delay return to contact sport until
Contrast-CT scan/MRI complete symptom resolution
• Concussion ----> normal findings without • 24 hour observation period for neurological
deterioration (diagnostic findings---->
other injury
outpatient/in-hospital)
• Contusion, hemorrhage----> abnormality
• Functional single concussion recovery
(usually 48-72 hours), headaches (over 2-4
OTHER DIAGNOSTICS weeks)
Diagnostic criteria
• Consciousness loss:< 30 minutes
• Memory loss: < 24 hours
• Glasgow Coma Scale: score 13-15 (eye
opening, verbal/motor/orientation response)
• More severe symptoms ----> moderate/severe
traumatic brain injury
131
SHAl(EN BABY SYNDROME
osmsJl/ sho.ken-\,o.\,14-s14nd,-ome
COMPLICATIONS
( PATHOLOGY & CAUSES ) • Retinal hemorrhage (diffuse, multilayered);
subdural hemorrhage; diffuse brain injury;
• AKA abusive head trauma/shaking-impact
global hypoxia, ischemia; increased
syndrome
intracranial pressure, herniation; skull
• Child head injury caused by another person fracture; spinal cord/paraspinal injury;
• Traumatic shaking ---> child's head flung hemorrhagic shock open fontanelle, (cranial
violently back/forth (may strike surrounding sutures allow large blood accumulation)
surfaces/objects) ---> acceleration-
deceleration, rotational force e- bridging
vessels tear (subdural hematoma), diffuse (__ SI_G_NS_&_S_Y_M_PT_O_M_
axonal injury, oxygen deprivation, brain
swelling, j ICP • Trauma signs may be invisible
• Infant anatomv-« j neurological-injury risk • Retinal hemorrhage; long bone, rib fracture;
from shaking soft-tissue scalp swelling; bruising;
O Large head:body ratio, weak cervical irritability; poor feeding; lethargy, coma;
paraspinal muscles ---> acceleration- vomiting; seizure; bulging fontanel (i ICP)
deceleration force movement • Late, severe neurologic deterioration signs
O Thin, pliable infant skull ---> j force , Bradycardia, pupillary change
transfer across subarachnoid space
O Relatively flat skull base ---> I brain
movement with deceleration force ( D_IA_GN_O_s,_s
__ )
O Soft infant brain (i water content
compared to adult), incompletely- DIAGNOSTIC IMAGING
myelinated infant neurons---> ! blood
Brain CT scan/MRI
flow autoregulation
• lntracranial hemorrhage
, Hematoma; subarachnoid, subdural
RISI( FACTORS (most common), epidural hemorrhage;
• Age (often first year of life), abusive intraparenchymal bleeding
caregiver; caregivers hold unrealistic
• Cerebral contusion/edema
expectations of child; emotional stress;
• Uncal, subfalcine, transtentorial herniation
aggression; biological sex (male> female);
perinatal illness (e.g. premature birth, • Hypoxia/ischemia
O Loss of grey-white distinctions
difficult labor, hospitalization, congenital
conditions); incessant crying • Skull fracture
• Family/individual factors • Appendicular, axial skeleton survey
°Family dysfunction history (abuse, O Detects additional injuries
neglect; domestic violence; drug/alcohol
abuse) Fundoscopy
O Young/single parent, parental • Retinal hemorrhage (before intracranial
depression, low socioeconomic status pathology evident)
(financial stress), limited education,
X-ray
biologically-male > -female (stepfather/
maternal boyfriend) • Limb X-ray---> metaphyseal fractures
• Chest X-ray---> rib fractures
132
OTHER DIAGNOSTICS
• Diagnostic triad
O Subdural, subarachnoid hemorrhage
O Metaphyseal fractures (extremities flail
uncontrollably during shaking)
O Retinal hemorrhage
( T_R_E~_iT_M_EN_T__ )
SURGERY
• Monitor ICP - cerebral ventricle drainage
may be required
• lntracranial hematoma - drain blood
collection (when indicated)
Figure 78.1 An MRI scan in the coronal
OTHER INTERVENTIONS plane of an three month old female with
head injury secondary to abuse. There is
• Many countries have mandatory suspected
intraparenchymal hemorrhage as well as
child abuse reporting laws - report
sub-falcine and transtentorial herniation of
incident
the brain.
133
NOTES

• Cranial pain, disturbs everyday life DIAGNOSTIC IMAGING
CT scan/MRI
TYPES • Used to exclude other diseases
Primary O Unusual neurological symptomatology;
• Migraine, tension headache, cluster headache accompanied by l body
headache temperature, stiff neck; new headache in
individual with HIV/cancer
Secondary
• Headaches caused by other disorders
( T_R_EA_~_M_EN_T__ )
CAUSES MEDICATIONS
• Genetic, environmental factors; stress • Prophylactic management
O Prevention of further attacks
( SIGNS & SYMPTOMS ) • Symptomatic treatment

O Pain, symptom-management
• Unilateral/bilateral, localized/diffuse head medications
pain
• Nausea, vomiting, aura/autonomic
symptoms
CLUSTER HEADACHE
osms.i"l/elus-ler-heo.do.ehe
afferents travel to nucleus caudalis
( PATHOLOGY & CAUSES ) O Projection to thalamus, sensory cortex
- perception of pain
• One-sided headache in ophthalmic
O Hyperactivation
nerve distribution region with autonomic of parasympathetic
pterygopalatine ganglion - autonomic
symptomatology
symptoms
• Hypothalamus involvement
• Cavernous sinus walls inflammation - !
O Episodic occurrence of cluster attacks
venous flow - injury of internal carotid
• Posterior hypothalamic activation - artery sympathetic fibers
secondary trigeminal stimulation -
134
TYPES
( D_IA_GN_O_SI_S
)
Episodic
• Daily episodes over 6-12 weeks; "clusters" DIAGNOSTIC IMAGING
followed by remission period up to 12
CT scan/MRI
months
• Exclude possible cranial lesions
Chronic
• Episodes without substantial remission OTHER DIAGNOSTICS
period
• Five unilateral/orbital/supraorbital/
CAUSES temporal attacks; 1-8 episodes daily,~
• Unknown; possibly genetic three hours
= Agitation/restlessness
RISI( FACTORS • ~ one autonomic symptom on same side
• More common in individuals who are as headache
biologically male
• Stressful periods, allergic rhinitis, sexual
intercourse, tobacco, excessive alcohol use
( T_R_E~_~_M_EN_T
)
MEDICATIONS
COMPLICATIONS
Acute management
• Supplemental oxygen/intranasal
sumatriptan/zolmitriptan
( SIGNS & SYMPTOMS ) O Initial treatment
• Intranasal lidocaine/oral ergotamine/lV
• Headache dihydroergotamine
O One-sided sharp, stabbing, burning O If initial treatment not effective
orbital/supraorbital/temporal head pain
Prophylaxis
• Autonomic
O lpsilateral
• Verapamil
conjunctiva! hyperemia with
lacrimation, nasal discharge, miosis, O Episodic attacks > two months/chronic
edema. drooping eyelid cluster headaches
• Episodes • Glucocorticoids (e.g. prednisone); can be
0 1-8 per day; lasts five minutes to three
used together with verapamil
hours • Lithium
• Restlessness, agitation. suicidal ideation O If other medications contraindicated
SURGERY
• Block greater occipital nerve
• Percutaneous radiofrequency ablation of
pterygopalatine ganglion
• Gamma knife radiosurgery
• Stimulation of pterygopalatine ganglion
• Posterior hypothalamus deep brain
stimulation
135
MIGRAINE
osms.i"l/ mig,-o.ine
TYPES
Migraine with aura
• Disease characterized by one-sided head • Typical aura migraine with/without
pain headache
• Probable mechanism • Brainstem aura migraine
O I neuronal hyperexcitability - cortical • Hemiplegic migraine
spreading depression wave across , Familial; types I, II, Ill
cortex - release of proinflammatory
, Sporadic
cytokines, matrix metalloproteinases
(MMP), nitric oxide (NO). glutamate. • Ocular migraine
adenosine triphosphate (ATP),
Migraine without aura
potassium ions from neurons/glial/
• Menstrual migraine
vascular cells - alters blood-brain
barrier - activates perivascular = Develops s two days before, continues
trigeminal nociceptors s three days after menstrual period
O Release of substance P, calcitonin • Chronic migraine
gene-related peptide, neurokinin A = ~ 15 headaches per month for z three
- neurogenic inflammation with months
meningeal blood vessels dilatation, = Analgesics, nonsteroidal anti-
protein exudation - further nociceptor inflammatory drugs (NSAIDs) overuse
stimulation biggest risk factor
O Projection of afferents to trigeminal
nucleus-pars caudalis - fibers relay to Probable migraine
thalamus, sensory cortex - perception • Attacks similar to migraine without one
of pain feature needed for migraine diagnosis
• Trigeminal nociceptors innervate anterior
head region, upper cervical dorsal roots CAUSES
innervate posterior head region - • Inheritance
converge in trigeminal nucleus caudalis -
, i neuronal excitability
characteristic pain distribution affecting
anterior, posterior head region • Familial hemiplegic migraine (FHM)
• Aura likely caused by depression spreading , Type I: CACNAlA gene mutation
to areas where perceived consciously , Type II: ATP1A2 gene mutation
• Serotonin receptors possibly involved in , Type Ill: SCNlA gene mutation
migraine pathogenesis
O Directly acting on blood vessels/ RISI( FACTORS
affecting pain pathways • Individuals who are biologically female, age
• If nociceptors stimulated too frequently - 30-39
neuronal sensitization, cutaneous allodynia • Stress, hormone oscillations, irregular
phenomenon (nociceptive response to non- eating/sleeping, weather. light, alcohol,
nociceptive stimuli) tobacco, odors
• Syndromes associated with migraine
, Recurrent gastrointestinal (GI)
disturbance; benign paroxysmal vertigo,
torticollis
136
COMPLICATIONS impairment to aphasia
• Status migrainosus • Subtypes
O Migraine lasting 2: 72 hours without O Brainstem aura: dizziness, double vision.
spontaneous resolution tinnitus, speech difficulties, altered
• Persistent aura without infarction consciousness
o 2: one week O Hemiplegic: aura usually includes one-
• Migrainous infarction sided motor weakness; vision, sensory
defects, t body temperature, seizures,
OPreceded by migraine attack with aura
coma
symptoms 2: one hour; retinal migraine
- permanent blindness
O Ocular: loss of vision/scotomas in one
eye; headache
• Migraine aura-triggered seizure
• Rebound headache due to medication
overuse ( DIAGNOSIS )
LAB RESULTS
(__ SI_G_NS_&_S_Y_M_PT_O_M_s_) • !serum N-acetyl-aspartate levels
• One-sided, pulsatile headache worsened

by physical activity, with maximum pain at OTHER DIAGNOSTICS
supraorbital location; followed by nausea,
vomiting, hypersensitivity to light and Non-aura migraine
sounds • Requires each of following
O May be accompanied by cutaneous • 2: five attacks: lasting 4-72 hours
allodynia phenomenon • 2: two of the following: one-sided,
• Prodromal symptoms (appear hours/days throbbing quality, moderately severe
before attack) pain, worsening with physical activity
O l irritability to light, sound, smells; • 2: one of following with headache:
yawning, food cravings, mood changes, nausea/vomiting; light, sound sensitivity
constipation/diarrhea
Migraine with aura
• Postdrome symptoms
O Lasting approx. one day after headache;
• Aura symptoms: visual, sensory, motor,
sudden movements - short-lasting
pain in previously affected regions; speech
exhaustion/tiredness/euphoria , 2: two of following: 2: one aura symptom
lasting 2: five minutes, followed by other
Aura aura symptomatology; auras lasting five
• Negative features (areas of vision loss) minutes-one hour; one aura, one-sided;
O Hemianopia/quadrantanopia, peripheral aura precedes headache that occurs
vision loss, spot-like scotomas, within 60 minutes
blurriness/blindness 0 2: two attacks: with listed characteristics
• Positive features
O Scintillating scotoma: glimmering
geometric shapes (e.g. zigzag line)
appearing centrally with expansion to
periphery; visual hallucinations
O Visual: most common
O Sensory: tingling sensations beginning
from one hand - arm. face - short-
lasting numbness
O Motor: facial/extremities weakness
O Language: progresses from mild speech
137
• Dexamethasone
(..__ __ T_R_E~_~_M_EN_T
) , Combined with symptomatic therapy -
! early headache recurrence rate
MEDICATIONS
• Antihypertensives
Mild/moderate O Beta blockers (propranolol/metoprolol/
• NSAIDs (e.g. aspirin, naproxen, diclofenac, timolol)
ibuprofen) ° Calcium channel blockers (verapamil/
• Paracetamol nifedipine)
O Angiotensin-converting enzyme
Moderate/severe inhibitors (ACEl)/angiotensin II
• Triptans receptor blockers (ARBs); e.g. lisinopril/
O Serotonin agonists; constrict blood candesartan respectively
vessels, alter pain pathways • Antidepressants
O Sumatriptan, zolmitriptan. naratriptan, O Tricyclic antidepressants (amitriptyline,
eletriptan nortriptyline, doxepin)
O Oral/nasal/subcutaneous administration O Serotonin-norepinephrine reuptake
O Triptan. NSAID combination; more inhibitors (SNRls) (e.g. venlafaxine)
effective than individual medications • Anticonvulsants
(e.g. sumatriptan, naproxen) O Topiramate/valproate
O Ergots (ergotamine)
• IV triptans
OTHER INTERVENTIONS
• Complementary, alternative medicine
O IV metoclopramide; IV/IM
, Herbs: butterbur (Petasites hybridus),
chlorpromazine
feverfew (Tanacetum parthenium)
• Ergots (e.g. dihydroergotamine) O Supplementation: riboflavin, coenzyme
QlO, magnesium
TENSION HEADACHE
osmsJl/ -lension-hee1de1ehe
• Common (~ 14 headaches monthly)
Chronic
• Bilateral, "tightening" headache (most • 2: 15 headaches monthly
common headache type)
O j tenderness of pericranial myofascial
CAUSES
structures - activation of vasculature-
surrounding nociceptors - episodic • l muscle tenderness
TH - prolonged nociceptor stimulation • Combination of genetic, environmental
- pain pathway sensitization with factors
hyperalgesia - chronic TH , Episodic TH
• Multifactorial inheritance
TYPES Chronic TH
°
Episodic
RISI( FACTORS
• Rare (s one headache monthly)
• White individuals who are biologically
138
female of Ashkenazi Jewish descent
• Age 2:: 40
( T_R_E~_~_M_EN_T
)
• Stress, anxiety, depression, poor posture MEDICATIONS
Immediate symptoms
COMPLICATIONS
• Analgesics
• Rebound headache
• NSAIDs
• Paracetamol
• Caffeine
(__ s,_G_NS_&_S_Y_M_PT_O_M_s ) • Butalbital
= If contraindication for NSAIDs/caffeine-
• Moderate, bilateral, non-pulsating head combined analgesics
pain
O Band-like distribution, without Prophylactic management
worsening during physical activity, few • Antidepressants
minutes to one week = Tricyclic antidepressants (amitriptyline,
• Photophobia/phonophobia nortriptyline/protriptyline)
• Stiffness/tenderness of head, neck, • Mirtazapine/venlafaxine
shoulder muscles • Anticonvulsants
• Topiramate/gabapentin
( D_IA_GN_O_s,_s )
PSYCHOTHERAPY
OTHER DIAGNOSTICS • Behavioral, cognitive-behavioral,
biofeedback therapy
Requires each of following
• Absence of nausea, vomiting
OTHER INTERVENTIONS
• Light/sound hypersensitivity without other
• Acupuncture, heating/icing, resting for
aura symptoms
immediate symptoms
• 2:: two of following
O Both sides of head affected
O Non-throbbing quality
O Moderate intensity
O No worsening during physical activity
139
NOTES
NOTES
•• HEARING LOSS
c PATHOLOGY & CAUSES ) Weber
• Distinguishes between conductive,
• Decrease in ability to perceive sound
• Variable etiology
(128Hz) at apex of head - individual
o External, middle, inner ear, associated indicates loudest side
neurological input/processing structures
, One ear preferred/louder indicative of
possible hearing loss
(__ SI_G_NS_&
__SY_M_PT_O_M_S_)
Rinne
• Compares air, bone conduction of sound
• Hearing loss
• Balance issues, headache, tinnitus (512Hz) at mastoid process - individual
indicates when vibration heard - examiner
moves vibrating tuning fork outside of
__ ) pinna - individual indicates if vibration
heart
OTHER DIAGNOSTICS , Bone conduction (mastoid placement
• Bedside (otoscopy to Rinne) and formalized of tuning fork) > air conduction (i.e.
(audiogram) testing individual cannot hear vibration after
first step complete) indicative of possible
Otoscopy
hearing loss
Whisper test
Audiogram
• Examiner speaks in whispered voice
• Pure tones of varying frequencies (Hz) at
0.61m/2ft away - individual covers far
varying volume of sound
ear with hand - examiner whispers word/
• Plot individual's 50% correct response rate
phrase - individual repeats word/phrase
(dependent on volume) for each frequency
Finger rub
• Examiner speaks closer to pinna -
individual indicates if sound heard C..____ T_R_E_AT_M_E_N_T
__ )
• Specific to underlying etiology; some
etiologies irreversible
140
BC>AC AC > BC (both 11
Midline/equal in both ears Lateralizes to diseased ear Lateralizes to normal ear
CONDUCTIVE HEARING LOSS

osms.tl/ eondue-live-hee1Ting-loss
Eustachian tube dysfunction
( PATHOLOGY & CAUSES ) • Results in abnormal pressure/reflux/
clearance of middle ear contents
• Disability of sound waves
• Shorter eustachian tubes in children ----. j
O Unable to be amplified, transmitted by
reflux of nasopharynx contents=- otitis
external/middle ear
media
O Higher incidence in children with
CAUSES abnormal craniofacial anatomy (e.g.
Down syndrome, Treacher Collins
Bony outgrowth syndrome)
• Exostoses: form at suture lines of external
auditory canal bony suture lines; associated Otitis externa
with repeated cold water exposure (e.g. • AKA swimmer's ear
swimmers) • Commonly bacterial
• Osteomas: form at tympanosquamous O Pseudomonas aeruginosa (most
suture line common pathogen)
Cerumen impaction • Chronidrepeated infections ----. polyps (can
occlude external auditory canal)
• j Incidence in elderly
Otitis media
Congenital
• tnfection-» effuston=-. poor transmittance
• Microtia: malformation/absence of auricle;
of sound wave in middle ear----. hearing loss
1st, 2nd branchial arch derivative; mild-
moderate conductive hearing loss • Highest incidence
0 6-18 months of age
• External auditory canal atresia: associated
with craniofacial diseases (e.g. Treacher • Microbiology: Staphylococcus pneumoniae,
Collins syndrome, Robin sequence, Haemophilus influenzae, Moraxefla
Crouzon syndrome) catarrhalis
• Commonly of ossicular chain (most • Risk factors: daycare, bottle feeding
commonly malformation of stapes) ----. • Complications: mastoiditis, cholesteatoma.
inability to reverberate-e- ! sound wave permanent hearing loss e- deafness
transmittance to oval window
141
Otosclerosis
• Bony overgrowth of stapes to oval window
( T_R_E~_~_M_EN_T
__ )
- inability to vibrate - inability to conduct
sound waves; can be autosomal dominant
with variable penetrance
MEDICATIONS
Trauma
• External ear
• Complete external auditory canal occlusion
, Mild: topical acidifying agent,
Tumors of middle ear g lucocorticoid
• Cholesteatomas (most common overall) , Moderate/severe: topical/oral antibiotics
O Desquamated, stratified. squamous • Middle ear
epithelium in middle ear space O Pain control (e.g. ibuprofen,
O Accumulation - erosion of middle acetaminophen), antibiotics
ear contents (ossicular chain) -
surrounding structures: external SURGERY
auditory canal (EAC). mastoid bone
• External ear
• Squamous cell carcinoma (most common
, If repeat infections/t size
malignant tumor)
• Middle ear
Tympanic membrane perforation O Tissue graft
• Common; due to trauma/barotrauma to ear/ O Surgical removal
face
OTHER INTERVENTIONS
( SIGNS & SYMPTOMS ) • External ear
, Cerumenolytics/irrigation/manual
• Decreased perception of sound removal
O Especially poor perception of low- ' Repeat infections/t size: EAC occlusion
frequency sound • Middle ear
O Overcome by volume of stimulus O Hearing aids
(..____ D_IA_GN_o_s,_s__ )
OTHER DIAGNOSTICS
• History. associated symptoms
• Otoscopy
• Special testing
O Weber (localization of vibration to
affected ear)
O Rinne (abnormal; bone conduction > air
conduction)
• Audiogram
O Universal/low-frequency deficit in pure
tone discrimination
142
Cerumenolytics/
Cerumen impaction pruritus. reflex cough, Cerumen in EAC2 irrigation/manual
dizziness, tinnitus removal
Mild: topical acidifying

Ear pain. pruritus, Edematous,
agent. glucocorticoid
Otitis externa discharge; severe --+ erythematous EAC,
Moderate/severe:
regional LAD• mobile TM'
topicaVoral ABX'
Bulging, normal- Repeat intections/

Bony outgrowth None appearing EAC +/ TM I size: EAC
visualization occlusion, surgery
Ossicular Hearing aids,

None Normal
malformation surgery
Eustachian tube Surgery (including

Ear fullness Effusion behind TM
dysfunction tympanostomy tubes)
Discomfort with Pain control

exam, effusion, (ibuprofen/
Otitis media Fever, irritability
erythema, acetaminophen),
immobile TM antibiotics
Hearing aids,
surgery-+
Otosclerosis None Normal
stapedectomy/
prosthesis
Associated trauma Hole in TM,

Tympanic membrane None--+ (severe)
to surrounding visual of middle
perforation tissue graft
bones/tissue ear components
Malignancy Size-dependent Mass Surgical removal
1 - other than hearing loss itself, 2 - external auditory canal. 3 - lymphadenopathy, 4 - tympanic membrane, 5 - antibiotics
143
SENSORINEURAL HEARING LOSS
osms.i"l/ sensoTineuro.1-heo:ring-loss
• Unilateral, episodic loss concurrent with

( PATHOLOGY & CAUSES ) tinnitus, vertigo
, Pathogenesis: unknown; possible
• Disability of inner ear (cochlea/CN VIII)
infection, autoimmune, vascular
to transduce sound waves - viable
constriction, congenital malformation
neurologic input - brain
- endolymphatic hydrops (e.g.
overproduction of endolymph,
CAUSES distension of endolymphatic space)
Central nervous system (CNS) Noise-induced

• Acoustic neuroma (CN VIII; AKA vestibular • Cause: chronic exposure to loud (> 85dB)
neuroma) auditory stimuli
, j size - compress cerebellum - ataxia • Pathogenesis: overstimulation of hair cells
• Meningitis in organ of Corti - nitric oxide, free radical
release - damage, death of hair cells
O Infection (via cerebrospinal fluid) -
cochlea - cochleitis - direct damage • ! Mg2+ - !Ca2+ intracellular concentration
to inner hair cells - i cell damage, death
• Meningioma
Presbycusis
• Acoustic nerve neuritis • Most common
O Multiple sclerosis, syphilis • Gradual, symmetric hearing loss in elderly
Congenital • More significant loss with higher
frequencies
• Spontaneous/genetic
• Pathogenesis: degeneration of hair cells at
• Acquired
base of cochlea
O Toxoplasmosis, other (syphilis,
varicella-zoster, parvovirus 819), Trauma
rubella, cytomegalovirus (CMV), herpes
• Skull fracture - injury to CN VIII/cochlea
(TORCH) infections
Drug-induced
• Aminoglycoside antibiotics (most common);
cisplatin
• Decreased perception of sound (esp. high-
• Aspirin {high-dose 6-8g/day), quinidine,
pitched sounds, speech discrimination)
loop diuretics (e.g. furosemide, ethacrynic
acid) - reversible hearing loss, tinnitus
Inner ear infection

( D_IA_GN_o_s,_s __ )
• Labyrinthitis (inflammation, spinning,
ringing)
D1AGNOST1C 1MAG1NG
MRI
Meniere's disease
• Identifies causes such as acoustic neuroma,
• Rare
perilymphatic fistula
144
OTHER DIAGNOSTICS • Antibiotics
• History, associated symptoms n Meninges
• Otoscopy
O Rules out causes of conductive hearing SURGERY
loss • Surgical resection
• Special testing O Acoustic nerve
O Weber: lateralization of sound to
unaffected ear
O Rinne: air, bone conduction (AC > BC)
OTHER INTERVENTIONS
• Hearing aids
• Audiogram
O Hair cells of organ of Corti
O Identifies deficit in high-pitched pure
tone discrimination • Dietary changes (! Na-)
• Radiotherapy
( T_R_E~_~_M_EN_T__ ) O Acoustic nerve
MEDICATIONS
• Antiemetics, vestibular suppressants (e.g.
perceiving spoken voice Hearing aids

in crowded rooms
Noise-induced
Hvpcracusls. tinnitus Hcarinq aids
hearing loss
Dietary change (l Na"),

antiemetics, vestibular
Meniere disease Episodic vertigo, tinnitus
suppressants (e.g.
Tinnitus. dizziness. HA2, Surgical resection,

Acoustic ncuroma
disequilibrium, ataxia radiotherapy
Ill-appearing, nuchal
Meningitis Antibiotics
rigidity, fever
HA, seizure, motor

Meningioma abnormalities. sensory Surgical resection
abnormalities
1 - in addition to hearing loss. 2 - headache
145
NOTES
NOTES
•• INCREASED INTRACRANIAL
PRESSURE
CAUSES
( PATHOLOGY & CAUSES ) • Cerebral edema (e.g. acute hypoxic
ischemic encephalopathy, trauma)
• Abnormal I intracranial pressure
• lntracranial space occupying lesion (e.g.
O Normal: 10-15mmHg (adults);
tumor, aneurysm, hemorrhage, etc.)
5-20mmHg (infants)
• l CSF production
Monro-Kellie hypothesis • Obstructive hydrocephalus
• Fixed cranial volume in skull • ! CSF absorption
• Three main components • Venous outflow obstruction
° Cerebrospinal fluid (CSF), blood, brain • Idiopathic intracranial hypertension
tissue
lntracranial compliance (ICC)

• Changes in intracranial content volume and
changes in intracranial pressure (ICP) • Deteriorating level of consciousness (early
• Slight I volume - compensatory sign)
mechanisms - slight l ICP • Headache
CSF displacement into thecal sac
°
• Nausea
O Venoconstriction/extracranial drainage • Vomiting
- ! cerebral venous blood volume • Ocular palsies
• Drastic volume increase - ! ICC - f lCP • Mydriasis (dilated pupils)
i ICP • Papilledema
• - compression of blood vessels - ! brain • Dyspnea
perfusion - brain ischemia - edema - • Back pain
ii ICP • Decorticate/decerebrate posturing
Cerebral perfusion pressure (CPP) =
°
mean arterial pressure (MAP)-ICP

0 ! CPP - j systemic blood pressure/ ( D_IA_GN_O_s,_s
__ )
vasodilation - j cerebral blood volume
- t ICP - ! ! CPP DIAGNOSTIC IMAGING
Nerve compression CT scan
• - impaired brain function • Mass lesions. midline shift, basilar cisterns
effacement
146
• ICP monitoring • Target---'> ICP < 20mmHg, MAP >
O lntraventricular catheter (gold standard) 90mmHg, CPP > 65mmHg
O lntraparenchymal fiberoptic catheter • Elevate head (30°) ---'> maximize venous
outflow
• Airway, breathing, and circulation (ABCs),
( T_R_E~_~_M_EN_T__ ) maintain adequate oxygenation
• Treat shock (if applicable): hypertonic
MEDICATIONS saline (HTS) (e.g 7.5%) to treat edema; HTS
• Sedation (propofol), osmotic diuretics, maintains high serum osrnolalltv-« reduces
prophylactic anticonvulsants cerebral edema (> 280 mOsm/L); f serum
osmolarity prevents intravascular fluid
leakage to brain tissue; t serum osmolarity
SURGERY draws excess water from brain tissue-« !
• Surgical removal of space-occupying lesion ICP
• Decompressive craniectomy • Hyperventilation
• Extraventricular drain (EVD)
BRAIN HERNIATION
osms.i-l/\>To.in-heTnie1-lion
site (craniectomy) ---'> decortication of
( PATHOLOGY & CAUSES ) herniated gyrus
• Brain tissue displacement: through skull lnfratentorial herniation

opening or dural fold • Tonsillar
• Damages associated with herniated section = Cerebellar
tonsils herniate in fora men
magnum ---'> brainstem, spinal cord
TYPES compression
Supratentorial herniation
CAUSES
• Cingulate/subfalcine
• t lCP
O Gyrus forced under falx cerebri ---'>
cerebral artery compression ---'> cerebral
ischemia then edema ---'> j ICP
• Uncal/transtentorial
° Cranial nerve (CN) compression in • Decorticate/decerebrate posturing
nerves Ill, IV, posterior cerebral artery • Seizures
---'> ipsilateral visual cortex ischemis -e • ! level of consciousness,
coma
• Glasgow Coma Scale (GCS) 3-5
• Central
• Mydriasis (dilated pupils)
O Temporal lobes squeezed through notch
• Irregular/slow pulse
in tentorium cerebelli ---'> basilar artery
stretched ---'> tearing, bleeding (Duret • Respiratory/cardiac arrest
hemorrhage) • Loss of brainstem reflexes (blinking,
• Transcalvarial gagging, pupillary reflex)
O Brain herniates through fracture/surgical
147
(..__ __ D_IA_GN_o_s,_s)
DIAGNOSTIC IMAGING
Head CT scan/MRI
• Depending on the cause, results show
mass lesions (e.g. tumor, aneurysm,
infarction, hemorrhage etc.) and
subsequent displacement of the brain away
from the mass, depending on localization
C..____ T_R_E~_~_M_EN_T
)
MEDICATIONS
• Osmotic diuretics
• Paracetamol (manage fever)
• Sedation/paralytic agents Figure 81.1 An MRI scan of the head in the
• ! metabolism - ! 02 consumption + ! C02 coronal plane demonstrating herniation of the
production - no systemic vasodilation - ! cerebellar tonsils secondary to hypoxic brain
cerebral blood volume - ! ICP injury.
• Prophylactic anticonvulsants
SURGERY
• Decompressive craniectomy
OTHER INTERVENTIONS
• HTS boluses - support circulation
O
HTS - l serum osmolarity - draw
excess water from brain tissue - ! ICP
• Hyperventilation
O Helps avoid j PaC02 or hypoxemia -
systemic vasodilation - l j cerebral
blood volume - j ICP

axial plane demonstrating a right sided acute
subdural hemorrhage. The pressure effect
has pushed the medial aspect of the right
cerebral hemisphere underneath the falx
cerebri, known as sub-falcine herniation.
148
IDIOPATHIC INTRACRANIAL
HYPERTENSION (IIH)
os,ns.lt/ldlopo.thlc-lntTo.cTe1nlo.l-h1JpeTtenslon

__ )
• AKA pseudotumor cerebri • Goal: treat symptoms/preserve vision
• Chronic T ICP, no obvious cause
MEDICATIONS
CAUSES • Carbonic anhydrase inhibitor
• j ICP - CN II compression - visual (acetazolamide) - I CSF production
impairment ° Contraindication: pregnancy
• Loop diuretics (furosemide) - !
RISI( FACTORS papilledema and ! mean CSF pressure
• Overweight, biologically female, fertile °Contraindication: pregnancy
individuals
SURGERY
• Optic nerve sheath fenestration (ONSF)
• Papilledema OTHER INTERVENTIONS
• Visual field loss • Weight loss
• CN palsies, typically CN VI (long intracranial
course)
• Headache
• Pulsatile tinnitus
• Photopsia (seeing flashes of light)
• Diplopia {double vision)
• Temporary visual disturbance
• Retrobulbar pain
• Back pain
( D_IA_GN_o_s,_s __ )
OTHER DIAGNOSTICS
• Headache & papilledema with
O No secondary cause of l ICP: normal
neuroimaging (MRI, contrast CT scan).
normal CSF composition Figure 81.3 A retinal photograph
demonstrating an expanded optic disc
O No malignant hypertension: mimics IIH
caused by intracranial hypertension.
O Lumbar puncture: l opening pressure
149
NOTES
NOTES
• • MOTOR NEURON DISEASES
• Group of degenerative motor neuron OTHER DIAGNOSTICS
diseases • History, physical examination (upper, lower
O Progressive muscle weakness, disability motor neuron signs)
• Muscle biopsy
CAUSES • Electromyography (EMG)
• Mainly genetic
( T_R_E~_~_M_EN_T__ )
MEDICATIONS
• Muscle weakness, fatigue - disability • Emerging disease-modifying agents
(limited efficacy)
OTHER INTERVENTIONS
• Primarily supportive care
AMYOTROPHIC LATERAL
SCLEROSIS (ALS)
osms.i-l:/o.m140-l:rophie-lo.-l:ero.l-selerosis
antioxidant protein; located on chromosome
( PATHOLOGY & CAUSES ) 21q22
, Gain-of-function mutation - misfolding
• Progressive, degenerative motor neuron
- protein aggregation - direct
disease; upper, lower motor neuron signs
neuronal injury, unfolded protein
O AKA Lou Gehrig's disease response - death
• Genetic associations initiate protein , Interference with organelle autophagy,
aggregation - neuronal injury, death - proteasome function
retrograde neuronal degeneration - gliosis , Interference with axonal transport,
• Protein aggregation - neuronal injury, mitochondrial function
death - retrograde neuronal degeneration , Further protein sequestration within
- gliosis protein aggregate
• Superoxide dismutase 1 (SOD1): codes for
• C9orf72: codes for protein involved in
150
sending/receiving signals between neurons; COMPLICATIONS
located on 9p2 l.2; 40% of familial ALS • Frontotemporal lobar dementia (FTLD)
O Hexanucleotide repeat expansion , Oisinhibition, compulsivity, loss of
- long 5' end of RNA transcript - empathy
abnormal transcription, novel protein , Pseudobulbar affect (PBA): common;
production - aggregation inappropriate, labile, expressive
O Unknown specific pathogenesis emotions (e.g. crying, yawning)
O Accumulated, novel proteins; dead • Neuromuscular respiratory failure
neurons • Dysphagia - pneumonia
• TOP-43, FUS: RNA-binding genes
Abnormal RNA processing - abnormal
)
O
protein accumulation - neuronal injury ( SIGNS & SYMPTOMS

O Pathway not completely known
• Early symptoms
Inflammatory response , Asymmetric hand weakness -
• Cerebral inflammatory response primarily dropping of objects (e.g. glasses of
mediated by microglia, astrocytes water)
• Natural killer, peripheral T-cells, monocytes , Cramping of upper extremities
infiltrate, contribute to inflammation (common)
• Microglial response - nitric oxide, oxygen , Oysarthria, dysphagia, dysphonia
radical, cytokine, glutamate release - develop later
motor neuron cell death • Atrophy - ! strength - ! muscle bulk,
• 5001 mutations especially susceptible to abnormal tone - fasciculations
pathologic inflammatory response , Weakness - inability to ambulate -
wheelchair use
TYPES • Late symptoms
, Respiratory weakness - dyspnea -
Progressive motor atrophy respiratory infection
• Predominant lower motor neuron
, Recurrent bouts of cough, fever, chill -
degeneration
pneumonia
Primary lateral sclerosis
• Predominant upper motor neuron
degeneration
(....____ D_IA_GN_O_s,_s __ )
Progressive bulbar palsy (AKA bulbar ALS) LAB RESULTS
• Affected cranial nerves - abnormal • l creatinine kinase (due to muscle atrophy)
deglutition, phonation - ventilator support • Heavy-metal levels, lyme disease
required , Negative
• Poor prognosis
O Mortality rate > 50% at two years OTHER DIAGNOSTICS
• El Escorial criteria (all three required)
CAUSES , Evidence of lower motor neuron (LMN)
• Usually sporadic disease by clinical/electrophysiologic/
• Familial (5-10%) neuropathic examination
O Multiple genes (e.g. 5001) , Evidence of upper motor neuron (UMN)
disease by clinical examination
, Progressive spread of signs/symptoms
RISI( FACTORS within/outside of body region, as
• Family history, age, cigarette smoking determined by history/examination
• Family history
151
• Neurological OTHER INTERVENTIONS
O Upper, lower motor neuron signs • Nothing curative, management of symptom
• Psychiatric progression, severity
O Mental status examination - apathy, • Symptom management
disinhibition, PBA in FTLD individuals , Multidisciplinary approach: neurologists,
physical therapists, speech therapists,
EMG dietitians
• Helps differentiate from other , Respiratory management: ! aspiration
neuromuscular junction diseases event - ! rate of progression to
• Acute denervation tracheostomy, ventilator-dependence
° Fibrillations of muscle fibers - active , Respiratory evaluation every three
denervation - improper neuronal months after diagnosis
discharge - small-amplitude baseline
variance
• Chronic denervation
O Large amplitude, long duration, complex
motor potentials
O Denervation injury - I muscle fiber
recruitment, ! neuronal innervation
( T_R_E~_~_M_EN_T__ )
MEDICATIONS
Disease-modifying agents
• New to market, mild/modest benefit
• Riluzole
O Indicated for mild-moderate disease of «
five year duration
O Mechanism of action: I any Figure 82.1 Amyotrophic lateral sclerosis is
excitotoxic interplay by glutamate in also known as Lou Gehrig's disease. Gehrig
neuronal toxicity - ! rate of neuron played for the Yankee's and died of ALS at
degeneration, symptom progression the age of 37.
• Edaravone
O Mechanism of action: free-radical
scavenger - ! oxidative stress - ! rate
of neuronal death, symptom progression
• Symptom management
O Muscle spasms: quinine
O Muscle spasticity: muscle relaxants
152
Babinski sign1, pathologic deep
t spasticity ! tendon reflexes (DTRs)2,
pseudobulbar affect (PBA)
!flaccid ! !/absent Fasciculations
1 - Reflex great toe extension, fanning of other digits on lateral stimulation of plantar foot
2 - Cross-adduction at hip adductors
SPINAL MUSCULAR ATROPHY

osms.i"l/s ino.1-museulo.r-o.-lro h14
SMN2 pseudogenepointmutation
( PATHOLOGY & CAUSES ) • Encodes similar protein as SMN1
, Difference: exon 7 (c.840C> T)
• Genetically-mediated degenerative
neurologic disease of childhood ' j susceptibility for protein degradation
O Lower motor neuron weakness,
---. ! functional protein at baseline
muscular atrophy • SMN 1 deficient ---. SMN2 responsible for
SMN protein production-» poor production
• Survival of motor neuron-1 (SMN1) loss-
of viable protein ---. motor neuron cell death
of-function mutation ---. ! motor neuron
survivaf =- loss of alpha motor neurons ' Copy number variation correlates with
(even in utero) ---. degeneration of anterior clinical presentation
horn cells ---. denervated skeletal rnuscle-»
hypotonia, muscle atrophy R1SIC FACTORS
• Family history
CAUSES
SMN1 loss-of-function
mutation COMPL1CAT10NS
• Autosomal recessive • Sleep disturbance
• Encoded on chromosome 5q • Cardiac arrhythmias (esp. SMA 1, 2. 3)
• Multiple physiologic roles • Restrictive respiratory disease (esp. SMA

0,1)
O Sp/iceosome assembly: ! nuclear
expression of SMN1 in spinal muscular ' Diaphragmatic tnvolvernent-e
atrophy (SMA) respiratory collapse
• Dysphagia ---. aspiration ---. pneumonia
O Inhibition of caspase svstern. I SMN1
expression ---. disinhibition of caspase • Poor ambulation ---. delayed gastric
---. j caspase expression ---. cellular emptying ---. gastrointestinal (GI) reflux.
apoptosis constipation
O Unclear role in alpha motor neuron
(patho)physiology
153
(..___s,_G_Ns_&_sv_M_P_TO_M_s_)
C..____ TR_E_AT_M_E_N_T
__ )
• Lower motor neuron signs MEDICATIONS
o Proximal limb severity (more common
Experimental disease-modifying therapy
than distal), ! muscle strength, tone;
!/absent DTRs, muscle atrophy, • Nusinersen
fasciculations , Antisense oligonucleotide ----. binds
SMN2 mRNA----. ! exon 7 spllcinq=-. l
levels of functional SMN protein
( D_IA_G_N_O_SI_S
) , Limited effectiveness

• Neurological
• Pulmonary
o Fasciculations; ! muscle strength, tone;
, Secretion manaqernent=-. ! aspiration
DTRs
events ----. ! pneumonia
• Muscle testing
, Ventilator support (SMA 0,1)
oEMG
• Nutrition, GI
o Abnormal spontaneous activity,
, Manage food conslstencv-» !
fibrillations, positive sharp waves
aspiration
• Muscle biopsy
, Gastrostomy tube placement in SMA 1
o Large zones of severely atrophic
, Encourage ambulation ----. ! gastric
myofibers
emptying time----. ! constipation, GI
o Remaining innervated fibers v- reflux
unchanged/hypertrophied size
• Orthopedic, musculoskeletal
, Physical therapy
, Spinal bracing ----. ! scoliosis ----. !
incidence of restrictive lung disease
Figure 82.2 A muscle biopsy demonstrating

neurogenic atrophy as would be seen in
motor neurone diseases like spinal muscular
atrophy. Denervated muscle fiber bundles are
small and atrophied whilst those that remain
innervated retain their normal size.
154
! fetal movement in pregnancy, facial diplegia,
Prenatal < 6 months
congenital heart defects, arthrogryposis
Furrowed brow, paradoxical breathing,

< 6 months < 2 years bell-shaped chest. frog-leg posturing:
poor suck. swallowing reflexes
Sparing of face/eye muscles, tongue atrophy,

6-18 months 10-40 years
minipolymyoclonus1• scoliosis
Legs more likely than arms to display onset of motor

> 18 months Unchanged
symptoms, respiratory muscle weakness, scoliosis
> 5 months Unchanged Achieves all motor milestones, less severe
1 - Fine tremor-like variant of myoclonus, commonly affects distal limbs
155
NOTES
NOTES
• • MOVEMENT DISORDERS
• Motor abnormality
( PATHOLOGY & CAUSES ) , Hypokinesia: ! amplitude
, Bradykinesia: ! speed
• Disorders causing abnormal movement
, Dyskinesia: unwanted, characterized
O Increased voluntary/involuntary
motor movement
movement (hyperkinetic disorders);
reduced movement (hypokinetic , Tremor: rhythmic motor movement;
disorders) resting, action, postural
, Rigidity: abnormal, uncoordinated
muscle tone across joint
TYPES
Acute fulminant episodes
• Reaction to trigger, medication (neuroleptic
( D_IA_GN_O_SI_S __ )
malignant syndrome)
OTHER DIAGNOSTICS
Benign chronic conditions • Neurologic examination
• Restless legs syndrome {RLS), essential , Observation of spontaneous movement,
tremor strength testing, tone evaluation, reflex
exam
Progressive chronic syndromes
• Parkinson's disease (PD), Friedreich's ataxia
C T_R_E~_~_M_EN_T__ )
CAUSES
MEDICATIONS
• Often idiopathic; genetic mutations,
medication • Beta blockers. anti-epileptics,
benzodiazepines; dopamine replacement,
agonists
OTHER INTERVENTIONS
• Mild, unpleasant sensations, intention/ • Avoid caffeine, nicotine, etc.
action tremors: rigidity, catatonia • Educational, supportive therapy
156
ESSENTIAL TREMOR
osms.i"l/ essen-lio.1--l,-emoY-
( PATHOLOGY & CAUSES ) (.____ D_IA_GN_O_SI_S

)
• Most common movement disorder; OTHER DIAGNOSTICS
involuntary, rhythmic shaking • Postural/action tremor of hands/head;
• Usually affects hands, fingers; sometimes duration 2:: three year
head, vocal cords • Alleviation with alcohol intake
• Action tremor (occurs during muscle effort)
Physical examination
O Postural/intention tremor
• Fine postural, action tremor in hands, head/
voice
CAUSES • Asymmetridsymmetric: cogwheel rigidity,
• Unknown; may be familial with autosomal resting tremor, dystonia (esp. head)
dominant inheritance pattern
RISI( FACTORS ( T_R_E~_~_M_EN_T

)
• Meat consumption
MEDICATIONS
O Exposure to heterocyclic amines (e.g.
• If disabling, symptomatic treatment
harmane, harmaline)
O Beta blockers
• Associated with dystonia (cervical,
spasmodic, cranial dystonia, writer's O Anti-epileptics
cramp), parkinsonism O Benzodiazepines
O Botulinum toxin (head tremors not
responsive to medication)
• Rhythmic, symmetrical tremor
OTHERINTERVENTONS
• Avoid caffeine, nicotine, etc.
O Hands, head, vocal cords, neck, face,
leg, tongue, trunk • Get enough sleep
• High frequency tremor ( 4-12Hz)
exacerbated by muscle contraction
• Inability to perform precise tasks
• Intention tremor
O Intensifies upon touching nose with
finger
• Postural tremor
O During outstretched arms
• Walking difficulties
• ! tremor with alcohol intake
157
Symmetrical Asymmetrical
Movement/posture Resting
High frequency Slow frequency
Arms. legs, voice,

Hands. legs, chin
neck, face, tongue
FRIEDREICH'S ATAXIA
osmsJl/friedreiehs-o.-lo.xio.
'600-1200 trinucleotide repeats -
( PATHOLOGY & CAUSES ) Friedreich's ataxia
• Genetic disorder; causes progressive

central nervous system (CNS) damage, COMPLICATIONS
movement problems
Progressive loss of cells
• Predominantly affects CNS; also affects
• In CNS, heart, pancreas
heart, pancreas
• Limb, gait ataxia - wheelchair bound -
• ! frataxin ----. ! mitochondrial oxidative
bedridden
phosphorylation ----. cell damage, death
• Dysphagia, dysarthria ----. aspiration -
• ! frataxin ----. j free iron ----. j oxidative stress
gastric bacteria insult to respiratory
- cell damage, death
parenchyma
• Neuronal cell death affects posterior
• Hypertrophic cardiomyopathy (secondary
columns of spinal cord. distal corticospinal
to myocardial cell death)
tracts, spinocerebellar tracts. brain stem.
cerebellum n Fibrosis - arrhythmia, hypertrophic
cardiomyopathy - heart failure
• Gene silencing - no frataxin synthesized
- iron accumulates in cell. reacts with
O Most common cause of death in
affected individuals (age 40-50)
oxygen----. unstable oxygen radicals - cell
death • Diabetes mellitus
O Loss of beta cells of pancreas
CAUSES • 25% of affected individuals

• Trinucleotide repeat GAA expansion • Musculoskeletal abnormalities
(chromosome 9q 13) - ! production of O Muscle denervation - abnormal forces
mitochondrial inner membrane protein. about joints - abnormalities
frataxin • Kyphoscoliosis
O Autosomal recessive inheritance pattern O Severe e- ! total lung capacity -
O j repeats ----. j severity, ! age of onset restrictive lung disease
158
• Pes cavus OTHER DIAGNOSTICS
Similar restrictive lung disease in severe
O • Symptom progression, family history
cases • Neurological exam
• Hammer toes • Ataxia (gait, hand); ! vibratory
sensation, proprioception; I deep
tendon reflexes, nystagmus
( SIGNS & SYMPTOMS ) Electromyogram
• Ataxia • Absent/reduced sensory nerve action
° Falling/staggering while walking, wide- potentials
based gait • Normal/only slightly decreased motor nerve
O Gait ataxia most common (age 0-10); conduction velocities
most individuals progress to wheelchair • Abnormal auditory, visual, somatosensory-
dependence within 11-25 years evoked responses
• Loss of vibratory sense, proprioception
• Muscle weakness, chest pain,
dyspnea, heart palpitations, absence ( T_R_E~_~_M_EN_T__ )
of tendon reflexes in legs, involuntary
eye movements, action tremor, hand OTHER INTERVENTIONS
clumsiness, dysarthria, fatigue • Occupational, physical therapy
O Balance, ataxic progression
• Cardiology
( D_IA_GN_O_s,_s __ ) O Annual electrocardiogram,
echocardiogram
LAB RESULTS • Severe scoliosis
Genetic testing O Orthopedic referral
• Confirms diagnosis • Annual diabetes screening
• GAA repeats; examine first intron in frataxin • Genetic, psychological counseling services
gene
159
NEUROLEPTIC MALIGNANT
SYNDROME
osmsJl/ neuTolep-lie-me1ligne1n-l-s14ndTome
• Lithium/alcohol/psychoactive substance use
( PATHOLOGY & CAUSES ) • Previous episode of neuroleptic malignant
syndrome
• Life-threatening idiosyncratic reaction
• Acute injury (e.g. trauma. surgery, infection)
to antipsychotic drugs; muscle rigidity,
fever, altered mental status, autonomic • Psychiatric conditions (e.g. acute catatonia,
dysfunction severe agitation)
• Dopamine blockade theory • Lewy body dementia
, Central dopamine blockade --->
hypothalamus ---> hyperthermia, COMPLICATIONS
dysautonomia • Rhabdomyolysis, renal failure
, Nigrostriatal dopamine blcckade -e • Seizures
tremor, rigidity
, Due to hyperthermia, metabolic
• Peripheral muscle theory imbalances
, Direct toxic effect of neuroleptics ---> • Encephalopathy, stupor, coma
mitochondria of skeletal muscle --->
• Cardiac arrhythmias (e.g. torsades de
rigidity, fever
pointes, cardiac arrest)
• Sympathetic nervous system theory
• Disseminated intravascular coagulation
, ! dopamine inhibitors ---> j sympathetic
output
' i sudomotor, vasomotor activity ---> fever ( SIGNS & SYMPTOMS )
CAUSES Altered mental status
• Agitated delirium with confusion (initial
Reaction to medications symptom); coma
• First-generation neuroleptic (most
common) Muscular abnormalities
, Haloperidol. fluphenazine, • Generalized muscular rigidity ("lead-pipe

rigidity")
chlorpromazine
• Second-generation neuroleptic medication
O Associated dysphonia. dysarthria
, Clozapine, risperidone. olanzapine • Catatonic signs
• Antiemetic • Extrapyramidal symptoms

O Tremor, chorea, akinesia
, Metoclopramide, promethazine,
droperidol • Less common
• Withdrawal of L-Dopa/dopamine agonist O Dystonic movements (e.g. opisthotonos.
therapy (Parkinson disease) trismus. blepharospasm). mutism.
dysarthria, dysphagia
RISI( FACTORS Hyperthermia

• Increase in dose/change of neuroleptic •Temperatures> 38-40°C/100.4-104°F
medication
• Abrupt cessation/reduction of dopaminergic
medication
160
Autonomic dysfunction
• Tachycardia, labile/elevated blood pressure,
C..____ T_R_EA_~_M_EN_T
__ )
tachypnea, sialorrhea, profuse diaphoresis
(sweating), flushing, incontinence
MEDICATIONS
• Discontinue offending neuroleptic agent
• Dantrolene (skeletal muscle relaxant),
(..____ D_IA_GN_o_s,_s __ ) bromocriptine (dopamine agonist); both
(if severe) to reduce muscle rigidity,
LAB RESULTS hyperthermia
• Severe t creatine kinase (CK)
°Correlates with rigidity severity----> OTHER INTERVENTIONS
1-lOOk international units/L • Maintain cardiorespiratory stability
• Mild t lactate dehydrogenase, alkaline , Intubation, mechanical ventilation
phosphatase, liver transaminases • Temperature reduction
• Electrolyte imbalances , Cooling blankets, ice water
o ! Ca2+, ! Mg2-, ! Na+/t Na+, t K+, gastric lavage, ice packs in axilla;
metabolic acidosis acetaminophen/aspirin
• j white blood cell count (leukocytosis) • Correct fluid, electrolyte imbalance
10-40k , ! CK damage/accumulation; replete
• Myoglobinuria insensible losses from diaphoresis
• ! serum iron concentration , Benzodiazepines: ! uncontrollable
agitations
OTHER DIAGNOSTICS • Electroconvulsive therapy
• Clinical presentation , If not responsive to medical therapy in
O Altered mental status ----> hyperthermia, first week; if severe/lethal catatonia
rigidity--> autonomic dysfunction
NEUROlEPTICMALIGNANT SYNDROME
VS. SEROTONIN SYNDROME
HISTORY CLINIC.AL LAI RESULTS OISTINGiUISHINGi
MANIFESTATION FEATURES
NEUROlEPTIC. Tetrad: mental status

Severe rigidity,
MAllGNANT Neuroleptic use change. fever. rigidity, metabolic
hyperthermia
SYNDROME autonomic instability abnormalities
Mental status change, None consistent

Prodrome of NN/D:
SEROTONIN neuromuscular hyperreactivity with disease:
SSRI use shivering. myoclonus,
SYNDROME (tremor. myoclonus). f CPK. leukocytosis,
hyperreflexia, ataxia
autonomic instability iHCO,-
161
PARl(INSON'S DISEASE
osmsJl:/ po.Tkinsons-diseo.se
COMPLIC ATIONS
( PATHOLOGY & CAUSES ) • Freezing phenomenon
, Progressive hypokinesia, bradykinesia
• Degeneration of dopaminergic neurons in
----> (akinetic) pauses in movement;
substantia nigra ----> tremor, rigidity, akinesia,
common when walking; tend to occur at
postural instability
thresholds (e.g. door frames)
• Most common neurological disorder; onset
• Falls
after age 50
O Secondary to postural instability, poor
• Degeneration of neurons in substantia nigra
movement amplitude
----> dopamine depletion from basal ganglia
----> disruption of connection to thalamus, • Dystonia
motor cortex-» Parkinsonism , Abnormal tone across joints---->
• Exact mechanism unknown; build-up disfiguring, painful posturing; universal
of abnormal proteins into Lewy bodies flexion of joints ----> severely kyphotic
in neurons; accompanied by death of posturing----> poor ability to ambulate,
astrocytes, significant increase in microglia ventilate
of substantia nigra • Dementia
• Protein (e.g. alpha-synuclein) accumulation ° Common after prolonged, primarily
in neuron ----> abnormal intracellular transit motor disease (in contrast to Lewy body
----> neuronal damage, death ----> motor dementia); psychosis, hallucinations
symptoms (severe)
O Asymptomatic neuronal degeneration:
brainstem {locus coeruleus)
O Symptomatic neuronal degeneration: (__ s,_G_NS_&_S_Y_M_PT_O_M_
)
basal ganglia; dopaminergic substantia
nigra pars compacta neurons diseased, • Psychiatric
O Depression, anxiety, mood disturbances;
die ----> dennervate striatum ---->
dysfunctional basal ganglia ----> hypo/ impairment of cognitive function,
bradykinetic motor output dementia (advanced stages)
O Late degeneration: cerebral cortex; • Sleep disturbances
leads to cognitive impairment O Wild dreams
• Autonomic dysfunction
CAUSES O Orthostatic hypotension, constipation,
• Usually idiopathic increased sweating
• Mutation of PINK1. parkin, alpha synuclein • ! olfactory sense

genes ° Common first symptom; history of! I
• Toxicity in recreational drug MPPP changed sense of taste, smell prior to
(synthetic opioid); rare motor symptoms
• Micrographia
RISI( FACTORS
• Family history, previous head injuries.
pesticides exposure
• Protective factors
° Caffeine, nicotine
162
\ MNEMONIC: TRAPS MNEMONIC: SALAD
Parkinson's disease Common Parkinsonism
symptoms treatments
Tremor (resting tremor) Selegiline
Rigidity Anticholinergics:
Akinesia trihexyphenidyl, benzhexol,
Postural changes (stooped) orphenadrine
Stare (serpentine stare) L-Dopa + peripheral

decarboxylase inhibitor:
carbidopa, benserazide
Amantadine
PARICINSON'S DISEASE IMPAIRMENTS Dopamine postsynaptic
receptor agonists:
MOTOR NON-MOTOR bromocriptine, lisuride,
IMPAIRMENTS IMPAIRMENTS pergolide
- Tremor - Cognitive impairment
- Rigid muscles - Depression. anxiety
- Difficulty walking - Sleep difficulties Dopamine replacement
- Decreased balance - Mood disturbances
• Precursor to dopamine----. t dopamine
- Freezing of movement - Decreased motor
- Slowness. decreased learning ability svnthests=- t synaptic dopamine----. !
amplitude of movement motor symptoms
• Commonly formulated with carbidopa
(peripheral decarboxylase inhibitor)
° Carbidopa-mediated inhibition of liver,
( D_IA_GN_o_s,_s__ ) systemic carboxylation ----. levodopa
cross blood brain barrier (BBB) ----. l
dopamine formation
OTHER DIAGNOSTICS
• Adverse effects
• Clinical presentation
O On/off phenomena: return of symptoms
O Resting tremor, rigidity, bradykinesia
prior to next dose; due to half life of
O Dopaminergic medication response
levodopa (approx. 90 minutes)
• Postmortem autopsy O Dyskinesia, dystonia: abnormal,
O Loss of pigmented dopaminergic repetitive movement {dyskinesia),
neurons of substantia nigra pars abnormal sustained muscle contraction
compacta {dystonia); head, neck (e.g. tardive
O Lewy bodies (intracytoplasmic dyskinesia of tongue, cervical torticollis);
eosinophilic inclusions), neurites j incidence with j dosing, duration of
disease
O Neuroleptic malignant syndrome: when
( T_R_E~_~_M_EN_T__ ) discontinued abruptly/high, multiple
doses missed
MEDICATIONS
• Symptomatic treatment; see mnemonic Dopamine agonists
• l dopaminergic stimulation of postsynaptic
receptors ----. ! motor symptoms
• Adverse effects
O Dyskinesia
O Impulse control disorder: t risk-taking
behavior (e.g. pathologic gambling;
compulsive sexual behavior, shopping)
163
Monoamine oxidase B (MA0-8) inhibitors SURGERY
• ! MAO-B-related dopamine metabolism - • Deep brain stimulation (DBS)
j synaptic dopamine - I motor symptoms , Direct neural stimulation of basal
• Most effective for mild-moderate symptoms ganglia (either subthalamic nucleus
of globus pallidus interna) - j motor
Anticholinergic output of basal ganglia - ! motor
• Improves neurochemical imbalance in basal symptoms
ganglia , Severe/medication nonresponsive
• Most useful in young (< 70) individuals with disease
tremor as primary symptom; less useful for
rigidity, bradykinesia
OTHER INTERVENTIONS
• Anticholinergic side effects common
• Education, support
Amantadine , Physical, emotional aspect of
• Antiviral drug degenerative, debilitating disease
° Known NMDA receptor agonist; ! • Physical therapy
neurotransmitter imbalance i , Exercise - I incidence offal Is
• Most useful in mild disease
Catechol-0-methyltransferase (COMT)
inhibitors
• ! dopamine, levodopa metabolism - j
synaptic dopamine - ! motor symptoms
• Rarely used as monotherapy
RESTLESS LEG SYNDROME

osmsJl/Y-es-lless-legs-s14ndY-ome
TYPES
Primary RLS
• Uncontrollable urge to move legs, relieved • Idiopathic; runs in families; onset< 45 years
by movement old; progressive, worsens over time
• Affects legs, feet bilaterally; less commonly
affects arms Secondary RLS
• Associated with underlying medical
conditions, medications; onset> 45 years
CAUSES
• Unknown
• CNS
RISI( FACTORS
• Pregnancy, iron deficiency/anemia,
0 ! iron, dopamine
smoking, caffeine, Parkinson's disease,
• Peripheral nervous system family history, renal failure, obesity
O Abnormal A fibers, peripheral nerve • Peripheral neuropathy (due to diabetes,
microvasculature alcoholism, rheumatoid arthritis, etc.)
164
• Medications
O Antidepressants, antiemetics,
( T_R_E~_~_M_EN_T
)
antipsychotics, antihistamines, calcium
channel blockers
MEDICATIONS
• If other interventions not effective
biologically female • Dopamine agonists (e.g. pramipexole,
ropinirole)
• Alpha-2-delta calcium channel ligands (e.g.
COMPLICATIONS pregabalin, gabapentin)
• lnsornnla c-. daytime drowsiness • Benzodiazepine
• Individuals with intermittent symptoms
( SIGNS & SYMPTOMS ) • Iron replacement
• ! symptom severity when low (< 75ng/
• Strong urge to move legs while resting; ml) serum iron levels repleted
unpleasant sensations (e.g. tingling,
burning, crawling, itching, aching) OTHER INTERVENTIONS
• Relief by movement; worsening of • Lifestyle changes
symptoms in evening/night----> insomnia
• Avoid aggravating factors/situations, !
• Nighttime leg twitching while asleep caffeine intake
Aggravating factors • Mental alert activities
• Antihistamines • Distract individual in times of symptoms
° Commonly used for sleep assistance
• Psychiatric medications
O Selective serotonin reuptake inhibitors
(SSRls), serotonin norepinephrine
reuptake inhibitors (SNRls), tricyclic
antidepressants (TCAs)
( D_IA_GN_O_s,_s)
OTHER DIAGNOSTICS
Clinical Presentation
• Urge to move limbs with/without
unpleasant sensations
• Improvement with activity
• Worsening at rest/in evening
165
NOTES
• NOTES
• NEUROCUTANEOUS DISORDERS

( PATHOLOGY & CAUSES ) ( DIAGNOSIS )
• Various disorders, primarily affecting skin, DIAGNOSTIC IMAGING
nervous system
MRI, CT scan
° Characterized by inherited/de novo
tumor suppressor gene mutations - I • See individual disorders
tumor formation incidence
• Tumor suppressor gene mutation - LAB RESULTS
abnormal/absent protein - loss of control • Genome testing
over important cell cycle regulators;
cell growth, proliferation; intercellular
communication - tumor formation OTHER DIAGNOSTICS
• Eye examination
RISI( FACTORS
• Parents with germline mutation ( TREATMENT )
SURGERY
(_~SI_G_NS_&~SY_M_P_TO_M_s~) • See individual disorders
• Various neurologic signs (lesion site-

dependent) OTHER INTERVENTIONS
• Eye, visual problems • No current underlying mutation treatment
• Mental, cognitive problems • Surveillance
• Skin lesions • Symptom management
• Benign, malignant nervous/other organ-
system tumors
166
ATAXIA-TELANGIECTASIA
osmsJI:/ C1-l:C1xiC1--lelC1ngiee-l:C1siC1
• Thymus hypoplastic
( PATHOLOGY & CAUSES ) n Fewer lymphocytes, Hassall's corpuscle
absence
• Rare autosomal recessive disorder
O Involves defective DNA repair
° Characterized by progressive
COMPLICATIONS
neurological abnormalities, most • Dysphagia - aspiration
noticeably ataxia, oculocutaneous • Pulmonary disease (chronic infection,
telangiectasias (superficial, dilated blood restrictive interstitial lung disease)
vessels of skin), immune deficiency, • Malignancies
malignancy • Infection (due to T cell deficiency, inability
• Mutation in ataxia-telangiectasia mutated to produce some antibodies, etc.)
(ATM) gene on chromosome 11; believed
to be DNA surveillance (looks for damage
- stops cell cycle to repair it/activates ( s,_G_NS_&_SY_M_PT_O_M_s_)
apoptosis)
• Telangiectasias (blood vessel dilation in skin
Abnormal ATM protein
offace, neck, bulbar conjunctiva)
• Unable to phosphorylate
• Skin lesions (e.g. care au lait spots-flat,
O Tumor suppressor protein p53 - lightly-brown pigmented birthmarks)
cell-cycle slowing/apoptosis absence
• Immune deficiency in cellular, humoral
- DNA repairing absence - immunity
mutation accumulation - malignant
transformation - l cell susceptibility to Neurologic
ionizing radiation • Abnormal gait, stance
O Tumor suppressor BRCA1 - l breast • Ataxia (tremors, lack of voluntary
cancer susceptibility coordinated movement)
O elF-4E binding protein 1 controls • Dystonia (muscle contractions - repetitive
protein synthesis when insulin present movement/abnormal posture)
- probable cause of insulin resistance,
• Oculomotor apraxia (inability to coordinate
disturbed growth
head, eye movements)
• Loses ribonucleotide reductase control
• Nystagmus, acquired strabismus, reading
- abnormal mitochondrial DNA
problems
synthesis, repair - probable cause of
• Problems with speaking, chewing,
neurodegeneration, premature aging
swallowing can - aspiration
• - chromosomal translocation, lymphocyte
inversion - l tendency of leukemias, • Cognitive impairment
lymphomas Pulmonary disease
Histology • Respiratory muscles weakness
• Central nervous system (CNS) • Aspiration
O Brain atrophy, Purkinje cell loss in • Interstitial lung disease
cerebellum (contributes to ataxia)
• Peripheral nervous system (PNS)
O Malformed nuclei in Schwann cells
167
(..__ __ D_IA_GN_O_SI_S )
• Neurological symptom presence (e.g.
progressive cerebellar ataxia)
LAB RESULTS
• Genetic testing
O Mutation identification in both ATM
gene copies
O I alpha-fetoprotein in serum
o ! ATM protein
0 ! immunoglobulins in serum (usually Figure 84.1 An ocular telangiectasia in an
lgA, lgG) individual with ataxia telangiectasia.
° Cell culture exposed to radiation (e.g.
X-ray) - I cell, chromosomal breakage
(..____ T_R_E~_~_M_EN_T )
OTHER INTERVENTIONS
• Occupational. physical therapy (functional
deficits)
• Monitor, treat main mortality causes
, Infections, dysphagia, pulmonary
disease, malignancy
NEUROFIBROMATOSIS TYPE I (NFt)

osmsJl/neuTofibTome1-losis--l1Je-i
• Deletion of one NF1 gene - more severe
( PATHOLOGY & CAUSES ) phenotypes
• New mutation appearing in postzygotic
• Rare autosomal dominant disorder
stage - some cells have normal NF1
° Characterized by j tumor incidence genes. some have mutations - segmental
O AKA von Recklinghausen disease, NFI neurofibromatosis
• Mutation in neurofibromin 1 gene (NF1) • Both NFl genes mutated - complete NF1
on chromosome 17 - abnormal/absent protein production loss
neurofibromin 1 protein (usually acts as
tumor suppressor) - unable to control RAS
pathway (stays trapped in active form) -
COMPLICATIONS
loss of cell growth, division control • Cognitive/learning disability, seizure.
hypertension
TYPES
• Small mutations in one NF1 gene copy -
mild phenotypes
168
(__ SI_G_NS_&_S_Y_M_PT_O_M_s )
• ;:=: six care au fait macules
Freckling
• Similar to cafe au lait macules but smaller,
appearing later in groups with tendency for
inguinal, axillary region
Lisch nodules (NF1-specific)

• Lifted tan-colored iris hamartomas
Figure 84.2 Lisch nodules in the iris of
Neurofibromas
an individual with neurofibromatosis.
• Peripheral
Hamartomata of the iris constitute part of the
O Benign peripheral nerve sheath tumors; diagnostic criteria for neurofibromatosis.
consist of many cells (primarily Schwann
cells)
O Location: skin, along nerve, nerve root
next to spine ( D_IA_GN_o_s,_s __ )
• Plexiform (leading morbidity cause)
O Superficial. deep/mixed nerve
DIAGNOSTIC IMAGING
overgrowth MRI
° Can compress adjacent structures (e.g. • Bright spots (areas of I signals in T2
airways). invade surrounding tissue, imaging)
become malignant
• Nodular Neuroimaging
O Superficial/deep hard lesions • Megalencephaly (j brain volume)
O Usually not invading tissue but can
become malignant LAB RESULTS
• Genetic testing (diagnosis confirmation)
Optic pathway glioma (OPG)
• Proptosis, visual problems
OTHER DIAGNOSTICS
Malignant peripheral nerve sheath tumor
• Clinically
(MPNST)
, Neurology, genetics, ophthalmology
• Swelling in extremity; pain; numbness, evaluation
burning sensation; extremity movement
= Parent. sibling history. examination
difficulty
helpful
Neurologic manifestations • At least two following features needed for
• Speech, language delays; attention deficit diagnosis
0 ;:=: six cafe au fait macules
hyperactivity disorder (ADHD)
= ;:=: two neurofibromas
Bone abnormalities
= Freckling
• Long bone dysplasia (anterolateral bowing)
= Optic glioma
O Narrowed medullary canal, cortical
0 ;:=: two Lisch nodules
thickening. pathologic fractures
° Characteristic bony lesion
• Pseudoarthrosis
° First-degree relative diagnosed with
Fake joint forming at previous fracture
°
NFl
site
• Scoliosis; osteoporosis
• Short stature
169
treatrnent=-. volume shrinkage
MPNSTs I OPGs
• Chemotherapy
• Stimulants
SURGERY
Mass effect tumors
• Surgical removal
Figure 84.3 Numerous cutaneous MPNSTs

neurofibromata on the skin of an individual • Surgical excision with radiation therapy
with type I neurofibromatosis.
PSYCHOTHERAPY
( T_R_E~_~_M_EN_T
__ )
• Speech, occupational therapy
MEDICATIONS
OTHER INTERVENTIONS
Mass effect tumors
• Orthopedic interventions
• Selumetinib
O MEK 1/2 inhibitor; orphan drug for NFl Neurologic abnormalities
NEUROF18ROMATOS1S TYPE 11 (NF~)

osms.tl/neul9ofi\>l9ome1-losis-t14pe-ii
TYPES
( PATHOLOGY & CAUSES ) • Phenotype is mutation type-dependent
, Nonsense, frameshift ----> severe
• Uncommon autosomal dominant disorder
phenotypes
°Characterized by j neural tumor
, Missense, inframe deletions v- mild
incidence (schwannomas, meningiomas)
phenotypes
• Mutations in neurofibromin 2 (NF2) gene on
chromosome 22----> abnormal NF2 protein
(i.e. merlin) COMPLICATIONS
° Cell membrane protein acts as tumor • Vestibular schwannoma
suppressor -e loss of contact inhibition • Meningiomas (intracranial, spinal)
(likely) ----> j tumor development risk • Neuropathies (facial, polyneuropathy)
• Usually appears in young adulthood • Gliomas
• Eye lesions (e.g. cataracts, retinal
hamartomas)
170
• Other non-neoplastic lesions (e.g.
meningioangiomatosis-benign
leptomeninges lesions with good
vascularization)
• Visual impairment
(...____ D_IA_GN_o_s,_s__ )
DIAGNOSTIC IMAGING
MRI
• Nervous system
diagnosed with NF2
LAB RESULTS
• Molecular testing for mutation
diagnosed with NF2
OTHER DIAGNOSTICS
• At least one of following needed
= Bilateral vestibular schwannomas < 70
years old
= Unilateral vestibular schwannoma < 70
years of age + first degree relative with
Figure 84.4 An MRI scan of the head in the NF2
axial plane demonstrating bilateral acoustic = Neurofibroma, meningioma, glioma,
Schwannomas in an individual with type II non-vestibular schwannoma, cataract
neurofibromatosis. or cerebral calcifications+ first degree
relative with NF2/unilateral vestibular
schwannoma without schwannomatosis
gene mutations
(__ s,_G_NS_&_S_Y_M_PT_O_M_s_) = Multiple meningiomas + unilateral
vestibular schwannoma/two of
• Skin lesions (cutaneous, subcutaneous neurofibroma, glioma, cerebral
tumors) calcification, cataract, non-vestibular
schwannoma
Neurologic disorders
= NF2 gene mutation from blood/detecting
• Vestibular schwannomas (may be bilateral)
same mutation in two different tumors
O Progressive hearing loss, balance
• Skin, eye examination
problems, tinnitus
• Meningiomas
diagnosed with NF2
O Extremity weakness, double vision,
incontinence, seizure
• Gliomas
O Headache, vomiting, visual loss
• Spinal tumors
O Muscle pain, weakness; paresthesias
171
(..____ T_R_E~_~_M_EN_T
)
MEDICATIONS
• Monoclonal antibodies against vascular
endothelial growth factor (VEGF) -
hearing improvement, tumor shrinkage
SURGERY
• Removal
(surveillance until symptomatic)
OTHER INTERVENTIONS
• Stereotactic radiosurgery, radiotherapy
(surveillance until symptomatic) Figure 84.5 An MRI scan of the head in the
axial plane demonstrating bilateral acoustic
Schwannomas in an individual with type II
neurofibromatosis.
Common Less common
Present Absent
Yes No
Ncurofibromas Schwannornas
Present Absent
Low High
172
STURGE-WEBERSYNDROME
osmsJl/ s-luTge-We \>eT-s14ndTome
Seizures (epilepsy)
( PATHOLOGY & CAUSES ) • Affect young children
• Usually start as focal - become
• Uncommon congenital disorder affecting
generalized
blood vessels on face, brain, eyes
• GNAQ gene mutation - abnormal guanine Hemiparesis
nucleotide binding protein - loss of • Affects extremities contralateral to brain
some intracellular signal pathway control lesion
- capillary angiomatosis development
• ! motor function
- hypoxia, venous stasis, thrombosis
(probable tissue damage cause) Ophthalmologic problems
• Mutation occurrence • Visual defects when brain's occipital region
O Early embryogenesis stages - probably affected
affect more vascular cell precursors - • Choroid hemangiomas - I intraocular
Sturge-Weber syndrome (SWS) pressure
O Later embryogenesis stages - believed • Episcleral, conjunctiva! hemangiomas
to affect endothelial cell precursors
- nonsyndromic port wine stains Endocrine problems
(malformed facial capillaries) • Growth hormone deficiency
• Central hypothyroidism
COMPLICATIONS
• Intellectual disability
• Hydrocephalus (probably due to venous
(.____ D_IA_GN_O_s,_s
__ )
stasis, thrombosis)
DIAGNOSTIC IMAGING
• Glaucoma (t intraocular pressure)
MRI
( SIGNS & SYMPTOMS ) • Contrast enhancement

• Presence, position, range of malformed
capillaries, veins
Port wine stain
• Newborns CT scan
°Flat pink lesions • Calcifications
• Grows bulging out, turns to red wine color
as individual ages OTHER DIAGNOSTICS
• Dilated blood vessels injury-prone - • Characteristic neurologic, ophthalmic, skin
superficial bleeding - hypertrophy, manifestations
nodularity
• Usually appears on forehead, upper eyelids
Leptomeningeal vascular malformation

• Big malformed intracerebral veins, usually
drain in deep venous system
• Venous stasis - chronic ischemia -
atrophied brain parenchyma, calcific
deposits
173
(..__ __ T_R_E~_~_M_EN_T
)
MEDICATIONS
• Antithrombotic therapy
• Topical medications
O Managing intraocular pressure
• Anticonvulsants
O Manage seizure
SURGERY
• Epileptogenic tissue removal
O Manage seizure
• Hemispherectomy (disabling half of brain)
O Manage seizure
OTHER INTERVENTIONS Figure 84.6 A CT scan of the head in the

• Photothermolysis (laser produced heat) axial plane of an individual with Sturge-
O Skin lesions Weber syndrome. There is calcification and
volume loss of the cerebral cortex on the
right side.
TUBEROUS SCLEROSIS
osms.i"l/-1:u\>erous-selerosis
• Mutation range-dependent
( PATHOLOGY & CAUSES ) , One copy mutated ----. cortical,
subependymal tubers
, Both copies mutated ----. subependymal
° Characterized by hamartoma, benign
giant-cell astrocytomas
neoplasm development involving many
organ systems
• l malignancy risk
• Mutation in one/both genes
O TSCl on chromosome 9----. abnormal/ COMPLICATIONS
absent hamartin • Seizure (leading morbidity cause)
O TSC2 on chromosome 16 (more • Autism spectrum disorders
commonly mutated) ----. abnormal/absent • Intellectual disability
tuberin • Pneumonia
• Abnormal ha martin, tuberin can not form/ • Heart, renal failure
form inactive complex----. control loss over
kinase mechanistic target of rapamycin
(mTOR)
O Anabolic metabolism, cell size regulator
----. giant-cell tumors
174
LAB RESULTS
( SIGNS & SYMPTOMS ) Genetic testing
Skin lesions • Mutation identification in TSC1/TSC2 genes
• Ash-leaf spots (hypomelanotic macules) of healthy tissue cells
• Angiofibromas on cheeks , Can establish diagnosis without clinical
• Ungual fibromas (small tumors growing manifestation
under nails) • Clinically uncertain diagnosis confirmation
• Shagreen patches (thick, pigmented, • Prenatal diagnosis
dimpled skin lesion usually on lower back)
• Characteristic brown plaques on infant OTHER DIAGNOSTICS
forehead
• Presents with at least two major symptoms
Brain lesions • Presents with one major, two/more minor
• Glioneuronal hamartomas, subependymal symptoms
nodules = "Confetti" skin lesions (small
O Seizure, intellectual disability hypomelanotic macules)
• Subependymal giant-cell tumors = ~ three dental enamel pits
= ~ two intraoral fibromas
O Hydrocephalus - headaches, vomiting,
visual problems, depression, appetite = Retinal achromic patch
loss = Multiple renal cysts
• White matter lesions = Nonrenal hamartomas
• Full parental evaluation once child
Cardiovascularlesions
diagnosed
• Cardiac rhabdomyoma (benign heart
• Skin, neurologic, ophthalmic examination
tumor)
• Vogt triad
O Blood flow obstruction, cardiac murmurs
= Seizure, facial angiofibroma, intellectual
Renal lesions (angiomyolipomas) disability
• Pain, irregular renal function
". '·.• .1.,~·.· . <~

Pulmonary lesions
• Diffuse interstitial fibrosis/
lymphangioleiomyomatosis (systemic
disease - cystic lung destruction)
O Dyspnea, pneumothorax
Ophthalmic lesions
;.,.
-.~?···.
• Retinal hamartomas (flat, translucent
- ,·
.
•.
.
.
It
: . .
.. ...~
•••
: .· -!
lesions): eyelid angiofibromas
-~
. '. . • 1
, . . ~ . -,
-
.
( D_IA_GN_O_s,_s ) Figure 84.7 Numerous facial angiofibromas

in an individual with tuberous sclerosis.
DIAGNOSTIC IMAGING
MRI
• With, without contrast enhancement
° Cortical glial hamartomas
O Subependymal nodules/giant-cell tumor
O White matter lesions
O Renal angiomyolipomas/cysts
175
Lungs
(..__ __ T_R_E~_~_M_EN_T ) • Lung transplantation
MEDICATIONS
PSYCHOTHERAPY
• Infantile seizures: corticotropin (ACTH)/ Cognitive, behavioral problems
vigabatrin • Special needs educational programs
• Partial seizures: many drugs (such as • Occupational therapy
oxcarbazepine) • Social support
• Refractory epilepsy • Psychiatric therapy
O Everolimus (mTOR inhibitor)
Tumor management OTHER INTERVENTIONS

• Medical therapy (e.g. everolimus) Seizure management, monitoring
• Refractory epilepsy
SURGERY , Ketogenic diet
, Vagus nerve stimulation
• Refractory epilepsy Skin lesions
O Epilepsy surgery • Sun protection
• Laser therapy
Tumor management
• Dermabrasion (wearing away of skin)
• Surgical removal if possible
• Angiomyolipoma embolization Lungs
• Pleurodesis
O Adhesion of two pleurae---'>
pneumothorax prevention
VON HIPPEL-LINDAU DISEASE

osms.l"l/von-hippel-lindo.u
growth dysregulation ---'> highly vascular
( PATHOLOGY & CAUSES ) tumor formation
, Cilia centrosome, microtubules
dysregulation ---'> cyst formation in
°Characterized by formation of many pancreas, liver, kidneys
different benign, malignant tumors
, Dysregulation of extracellular rnatrix -«
(hemangioblastomas, renal cell
malignant behavior
carcinoma, pheochromocytoma)
• Affected people usually have one inherited
• Mutation affects von Hippel-Lindau (VHL)
mutated allele but development requires
tumor suppressor gene on chromosome 3
other allele mutation/deletion/inactivation
- abnormal VHL protein
O Lost ability to deactivate hypoxia
induced factor 1 alpha (HIF1A), 2 alpha TYPES
(HIF2A) - HIF1A starts continuously • Two types of VHL disease (based on
producing erythropoietin while HIF2A pheochromocytoma development risk)
produces VEGF---'> cellular metabolism,
176
Type 1
• !risk
(..__ __ D_IA_GN_O_s,_s
__ )
• Usually associated with large deletions, DIAGNOSTIC IMAGING
frameshift, nonsense mutations
CT scan
Type 2
• i risk
• ELSTs
• Usually associated with missense
• Retrolabyrinthine calcifications
mutations
MRI
(__ s,_G_NS_&_S_Y_M_PT_O_M_s_) • ELSTs
Hemangioblastomas • Hyperintense Tl, heterogeneous T2
focal signals
• Usually affect cerebellum, spinal cord, retina
O Benign, well defined tumors
o Highly vascular LAB RESULTS
° Can pressure adjacent structures/bleed • Pheochromocytomas
• Serum testing: t normetanephrine to
Retinal capillary hemangioblastomas metanephrine ratio
• Visual loss • Genome testing
• Retinal detachment • Southern blotting
• Glaucoma = Genome sequencing
• Prenatal diagnosis
Renal cell carcinomas (RCC)
= Amniocentesis
• Haematuria
• Chorionic villus sampling
• Flank pain (between ribs, hips)
• Abdominal mass
OTHER DIAGNOSTICS
Pheochromocyto
mas • Retinal examination
• Headaches • ELSTs
• High blood pressure, j heart rate • Auditory tests
• Skin sensations • Genetic counseling
Pancreatic tumors
• Usually asymptomatic
O Epigastric pain ( T_R_E~_~_M_EN_T
)
O Diarrhea
MEDICATIONS
Endolymphatic sac tumors of middle ear
• Pheochromocytomas
(ELSTs)
Alpha-adrenergic
O blockade
• Hearing loss
• Tinnitus
• Vertigo
SURGERY
• CNS hemangioblastomas, pancreatic
tumors, ELSTs
O Removal (when symptomatic)
° Cochlear implants: individuals with
hearing loss
177
• RCC • Retinal capillary hemangioblastomas
O Partial nephrectomy O Laser photocoagulation
• Pheochromocytomas n Cryotherapy
o Removal • RCC
n Cryotherapy
OTHER INTERVENTIONS O Radiofrequency ablation

• CNS hemangioblastomas, pancreatic • Pheochromocytomas
tumors, ELSTs n Catecholamines production surveillance
O Stereotactic radiosurgery, radiation
therapy
178
NOTES

LAB RESULTS
( PATHOLOGY & CAUSES ) • Serologic test for specific antibodies
• Disorders impairing neuromuscular

transmission lead to muscle fatigability, OTHER DIAGNOSTICS
weakness
Electrophysiolog
ic study
• Repetitive nerve stimulation
CAUSES • Decremental response/improvement
• Autoantibody production
• Electromyogram
O Targeted against neuromuscular
• ! muscle action potential
transmission pathway proteins
• Myasthenia gravis (MG) Pulmonary function test (PFT)
• Lambert-Eaton myasthenic syndrome • Periodically
(LEMS) • Detect respiratory muscle involvement
• Transient acquired neonatal myasthenia in forced vital capacity (FVC) !
• Genetic mutation
O Affecting pathway components (e.g.,
congenital myasthenia) ( T_R_E~_~_M_EN_T
__ )
• Treat underlying cause (e.g. LEMS
COMPLICATIONS malignancy)
• Respiratory muscles involved ----. potentially
fatal respiratory failure
MEDICATIONS
( SIGNS & SYMPTOMS ) • Inhibit acetylcholine degradation
----. I acetylcholine concentration in
• Primary clinical manifestation neuromuscular junction (symptomatic
O Painless muscle weakness without therapy)
significant muscle atrophy • lmmunomodulating agents
O Ocular, extraocular, oropharyngeal, • ! autoantibody production
bulbar, neck, limb, respiratory muscles O Individuals with poor
• Corticosteroids/other
( D_IA_GN_o_s,_s __ ) immunosuppressive agents
• If above fails/emergency (e.g., myasthenic
DIAGNOSTIC IMAGING crisis)
CT scan O Plasmapheresis/intravenous
immunoglobulin (IVIG)
• Thymoma (MG)
• Small-cell lung carcinoma (LEMS)
179
LAMBERT-EATON MYASTHENIC
SYNDROME (LEMS)
osmsJl/lQm\,eT-l-eQ-lon-ln'4Qs-lhenlc
lymphoproliferative disorders (e.g.,

( PATHOLOGY & CAUSES ) Hodgkin's lymphoma)
• Autoimmune diseases
• Rare autoimmune disorder
, Hashimoto's thyroiditis, diabetes
O Autoantibodies inhibit presynaptic
mellitus type 1, vitiligo
calcium channels on motor neurons
- reduced acetylcholine release in
neuromuscular junction COMPLICATIONS
• Muscle weakness • Respiratory muscle involvement -
O Improves temporarily after repeated respiratory failure
muscle use (no significant muscle • Underlying malignancy - can lead to death
atrophy)
• Mostly affects somatic nervous system,
can also affect autonomic nervous system's ( SIGNS & SYMPTOMS )
parasympathetic part
• Middle-aged adults (most cases) • Progressive, symmetrical proximal muscle
weakness (e.g., shoulders, hips, thighs) -
difficulty climbing stairs/standing when
CAUSES seated
, Paraneoplastic LEMS: more rapidly
Type II hypersensitivityreaction
progressive course
• B cells produce antibodies that target, block
• Warming-up phenomenon
voltage-gated calcium channels located
presynaptically on motor neurons - only , Repeated muscle use - weakness
few unbound channels available to open, temporarily relieved
allow calcium in - ! calcium within neuron • Reflex strength !
(insufficient to trigger acetylcholine release) , Muscle activation - reflex recovery/
- ! acetylcholine release in neuromuscular improvement
junction - attached muscle fiber does not • Small minority
contract
, Ocular, oropharyngeal muscle
• Repeated stimulation by brain's electrical involvement
impulses - enough calcium might get
• Advanced stages
through remaining unbound calcium
O Possible respiratory muscles
channels - acetylcholine release - muscle
involvement - respiratory failure
contraction
(myasthenic crisis)
RISI( FACTORS O Dry mouth (most common),
• Malignancy constipation, blurry vision, erectile
O Strong small-cell lung cancer dysfunction, urinary problems, syncope
association; stimulus for antibody
production is same calcium channel
expression in neoplastic cells
O Other associated malignancies include
180
(..____ D_IA_GN_o_s,_s
__ ) (..____ T_R_E_AT_M_E_N_T
__ )
DIAGNOSTIC IMAGING MEDICATIONS
• Symptomatic therapy
CT scan
• Acetylcholinesterase inhibitors: minimal
• Chest effect
o Detect underlying small-cell lung cancer
• Aminopyridines: block potassium
• Abdomen, pelvis also recommended channels - prolonged nerve membrane
• Negative initial malignancy evaluation depolarization - l calcium entry - i
o Periodical screening recommended acetylcholine release in neuromuscular
junction
• If above methods fail
LAB RESULTS
• lmmunomodulating agents can
• Serological tests
be used (corticosteroids, other
o Detect antibodies against the voltage-
immunosuppressive agents)
gated calcium channels
OTHER INTERVENTIONS
OTHER DIAGNOSTICS
• Occasionally treated with IVIG/
plasmapheresis
o Repetitive nerve stimulation: j muscle
• More severe cases
action potential amplitude
o Electromyogram: j muscle action
potential amplitude after exercise
• PFT
o ! FVC - respiratory muscle
involvement
MYASTHENIA GRAVIS
osms.i"l/ m1Jo.s-lhenio.-gTo. vis
(MuSK) - ! in acetylcholine receptor
( PATHOLOGY & CAUSES ) function
• Acetylcholine cannot bind - normal action
• Autoimmune disorder; significant skeletal
potentials cannot be generated (adjacent
muscle weakness
muscle
o Decreased acetylcholine receptor
• Complement activated - inflammatory
function - worsens with muscle use
response initiation - postsynaptic
o Most common neuromuscular junction membrane damage - acetylcholine
disorder receptor destruction
• Type II hypersensitivity reaction • Bimodal onset age
o B cells produce antibodies against , 20-30 years old (biologically-female
postsynaptic nicotinic acetylcholine predominance)
receptors of neuromuscular junction/ , 60-70 years old (biologically-male
receptor-associated proteins
predominance)
o Autoantibodies targeted against
• Associated with thymic abnormality;
muscle-specific receptor tyrosine kinase
thymus considered antigen source
181
promoting autoantibody production (most dysphagia), palatal (nasal tone,
cases) prolonged speech ----> hypophonia)
• Neonatal myasthenia gravis • Facial muscle
O Transient myasthenia form (newborn , Facial weakness, facial expression loss
from individual with myasthenia gravis) • Neck muscle
O Maternal antibodies ----> transplacental , Cannot keep head up ("drooped head
passage----> neuromuscular junction syndrome")
function interference • Limb muscle
• Rare non-immune mediated forms O Proximal, asymmetric muscle weakness
O E.g. congenital myasthenia gravis • Respiratory muscle
O Mutations affecting neuromuscular , Respiratory failure (myasthenic crisis)
transmission
COMPLICATIONS ( D_IA_GN_o_s,_s__ )
• Myasthenic crisis
O Decreased respiratory muscle function
DIAGNOSTIC IMAGING
----> life-threatening respiratory failure CT scan
(requires mechanical ventilation)
• Chest scan to detect associated thymic
O Occurs spontaneously/precipitated abnormalities
(e.g. surgery, infection, medication,
, Abnormal thymus (most cases)
immunosuppressive-agent withdrawal)
, Thymoma
( s,_G_NS_&_SY_M_PT_O_M_s_) LAB RESULTS

• Serologic test
• Fluctuating muscle weakness , Acetylcholine receptor antibodies
OExacerbated by repetitive muscle use (AChR-Abs)/muscle-specific receptor
throughout day/after exertion/repetitive tyrosine kinase antibodies (MuSK-Abs)
movement , Most specific tests
• Improves with rest , Seronegative for AChR-Abs, MuSK-Abs
• Progression
O Symptoms continuously present,
fluctuate from mild-severe
OTHER DIAGNOSTICS
• Sensation, reflexes preserved
, Repetitive nerve stimulation studies:
Clinical MG forms progressive decline in muscle action
• Ocular myasthenia potential amplitude (decremental
O Limited (eyelid, extraocular muscle); response)
individuals (50%) with ocular , Single-fiber electromyography:
myasthenia will----> generalized increased jitter
myasthenia (< two years) • Tensilon test
• Generalized myasthenia = Edrophonium: acetylcholinesterase
O Ocular, bulbar, facial, limb, respiratory inhibitor with rapid onset, short acting
muscle duration
• Ocular muscles , Prolongs acetylcholine presence in
O Eyelid (ptosis), extraocular (binocular neuromuscular junction ----> marked
improvement
diplopia)
, Easy to perform/limited utility;
• Bulbar muscle
high false-positive rate, possible
O Jaw closure (prolonged chewing---->
complications from muscarinic effects
weakness), oropharyngeal (dysarthria,
182
(especially older adults, e.g. bradycardia, SURGERY
bronchospasm) • Thymectomy, especially for thymoma;
• PFTs myasthenia often improves/disappears
O Periodical FVC monitoring; FVC ! • Rapidly worsening myasthenia/myasthenic
reveals respiratory muscle involvement crisis
• Ice pack test = Intubation
O Ice pack application (2-5 minutes) - = Plasmapheresis/intravenous
MG-affected muscles immunoglobulin (IVIG)
O Neuromuscular transmission = Long-acting immunotherapy (e.g.,
improvement in low temperature corticosteroids, azathioprine)
MNEMONIC
Edrophonium vs.
pyridostigmine
eDrophonium for Diagnosis
pyRIDostigmine is to get RID
of symptoms
Figure 85.1 A biologically-female individual

with myasthenia gravis demonstrating ptosis
of the right eye before treatment (above) and
after treatment (below) with edrophonium.
( T_R_E~_;i-_M_EN_T
)
• No curative method
MEDICATIONS
• Avoid MG-exacerbating drugs (e.g.
aminoglycosides, tetracyclines, beta-
blockers, quinidine)
O Symptomatic therapy
• lmmunomodulating agents! autoantibody
production
O Individuals with poor
• Corticosteroids, other immunosuppressive
agents
183
NOTES
NOTES
•• NEUROPATHIES
OTHER INTERVENTIONS
( PATHOLOGY & CAUSES ) • Physiotherapy
' Helps restore muscle function (if nerves
• Peripheral nervous system (PNS) disorders
are not severed=. may help motor
caused by neuronal damage
function with partial lesions)
• Splinting (e.g. wrist, ankle)
(_~SI_G_NS_&~SY_M_P_TO_M_S~)
MNEMONIC: DANG
• Impairment/loss of motor/somatosensory
function; "pins and needles" sensation
' ' THERAPIST
(paresthesia) Peripheral neuropathies
common differential
diagnosis
(-~~D_IA_G_N_O_SI_S~~) Diabetes
Amyloid
• History: characteristic symptoms, Nutritional (e.g. 812 deficiency)
sometimes preceding injury
Guillain-Barre
DIAGNOSTIC IMAGING Toxic (e.g. amiodarone)

• Imaging for some conditions Hereditary (Charcot-Marie-
Tooth)
OTHER DIAGNOSTICS Endocrine
• Electromyography (EMG), nerve conduction Recurring (10% of Guillain-
studies (NCS) Barre)
Alcohol
Pb (lead)
(-~~TR_E_A_~M_E_N_T~~) Idiopathic
MEDICATIONS Sarcoid
Thyroid
• For neuropathic pain
SURGERY
• Surgery to relieve nerve compression
184
CARPAL TUNNEL SYNDROME
osms.i'l/ eo.Tpo.1--lunnel-stJndTome

)
• Nerve entrapment disorder - compression • Usually unilateral symptoms
of wrist's median nerve • Individual may awake with numbness,
O Median nerve passes through carpal tingling (after day of use - worsens at
tunnel night)
• Carpal tunnel • Initially dull ache, discomfort; paresthesia,
O Floor: carpal arch sharp pain extending to forearm
O Roof: flexor retinaculum (transverse • Pain, numbness, tingling in thumb, index
carpal ligament) finger, middle finger, thumb side of ring
° Contains nine flexors, median nerve finger on palmar side of hand
• Repetitive stress injury in susceptible • Clumsiness, dropping small objects

people - inflammation - edema - fluid • No sensation loss in palm's central region
in narrow space compresses structures - O Pal mar branch of median nerve
nerve injury, impaired neuronal transport/ innervates it, branches off before going
vessel compression, nerve ischemia through carpal tunnel
CAUSES ( D_IA_GN_O_s,_s)
• Tendonitis, edema, repetitive stress injury
(typing) OTHER DIAGNOSTICS
RISI( FACTORS EMG

• Identifies neuropathic changes (sharp
• Obesity, pregnancy, other underlying
waves, j insertional activity)
conditions (rheumatoid arthritis), trauma,
genetic predisposition, occupation NCS
• ! response amplitude
COMPLICATIONS
Physical exam
• Thenar muscle atrophy
• Findings that support diagnosis
O Phalen maneuver: pressing of upper
MNEMONIC: TRAMP
' Carpal tunnel syndrome
hands together while flexing wrists
induces pain
common causes O Tine/'s sign: tapping on wrist over
Trauma (occupational) median nerve elicits pain
Rheumatoid arthritis O Durkan's test: pressing of median nerve
for 30 seconds worsens symptoms
Acromegaly
O Thenar eminence atrophy
Myxoedema
Pregnancy
185
MNEMONIC: WRIST
(..__ __ T_R_EA_~_M_EN_T
) Carpal tunnel syndrome
treatment
MEDICATIONS Wear splints at night
• Corticosteroid injections - ! inflammation
Rest
Inject steroid
SURGERY Surgical decompression
• If symptoms persist, cut transverse Take diuretics
ligament to relieve pressure
OTHER INTERVENTIONS
• Behavior modification (e.g. adjusting typing
position, weight loss)
• Wrist supports, splints
O Helps relieve wrist straln.j symptom
severity
Figure 86.1 Relative wasting of the right

thenar eminence in a case of carpal tunnel
syndrome.
ERB-DUCHENNEPALSY
osmsJl/ el'"\>-duehenne-po.ls11
• Upper brachia I plexus stretching - nerve

( PATHOLOGY & CAUSES ) damage
• Type of neonatal brachia! plexus palsy

° Caused by upper part of brachia! plexus
TYPES
injury • Brachia! plexus injuries
O AKA Erb's palsy , Neuropraxia (most common, nerve
stretched but not torn)
O Brachial plexus: group of nerves provide
movement, feeling to shoulder, arm, , Avulsion (most severe, roots torn from
hand, fingers; roots included in plexus spinal cord)
are C5-Tl forming superior, middle, , Rupture (nerve torn)
inferior trunks which form lateral, , Neuroma (nerve torn - healed, scar
posterior, medial cords puts pressure on injured nerve)
• Nerves affected
, Axillary RISI( FACTORS
O Musculocutaneous (biceps brachii, • Shoulder dystocia, macrosomia,
brachioradialis) malpresentation, maternal obesity,
O Suprascapular cephalopelvic disproportion, prolonged/
186
difficult labor, precipitous delivery
( D_IA_GN_O_s,_s
__ )
COMPLICATIONS DIAGNOSTIC IMAGING
• Affected arm grows shorter than other
X-ray
• Limited range of motion
• Rule-out fracture
• Muscle weakness
Ultrasound
• May show shoulder dislocation
(...___s,_G_NS_&_SY_M_PT_O_M_s_)
• "Waiter's tip" OTHER DIAGNOSTICS
O Hanging arm rotated medially, extended • Neurological exam
forearm, fixed wrist , Difficult due to limited child movement
• Affected arm may be held against body; , Involves evaluation of arm range of
flaccid, flexed at elbow movement, motility
• Lateral part of forearm sensation loss,
circulatory disturbances, paralysis Electromyoneu
rography (EMNG)
• Asymmetric Moro reflex • Shows damage extent
O Infant spreads only one arm (instead of
two) when it feels like it's falling
(.____ T_R_EA_~_M_EN_T
__ )
SURGERY
• Nerve repair/reconstruction
------ OTHER INTERVENTIONS

O Promotes muscle strengthening, normal
function
Figure 86.2 An illustration of the "waiter's

tip" position.
187
l(LUMPl(E PARALYSIS
osmsJl/lclumplce-pC1TC1l1Jsis

• Type of brachia! plexus palsy affecting
lower brachia! plexus nerve roots C8-Tl
• Abducted arm during childbirth - arm
traction, pulling - nerve stretching in
inferior brachia! plexus area - brachia!
plexus damage
CAUSES
• Obstetric injury in adulthood
= Caused by grabbing things when falling
from height Figure 86.3 An illustration of the claw hand
position.
RISI( FACTORS
• Birth injury
• Macrosomia, cephalopelvic (....___ D_IA_GN_O_SI_S __ )
disproportion, shoulder dystocia,
prolonged/difficult labor. precipitous OTHER DIAGNOSTICS
delivery, abnormal presentations • Clinical diagnosis through neurological
• Adult trauma exam
= Car crashes, falls, contact sports , Testing mobility, sensation, Homer's
syndrome symptoms
COMPLIC ATIONS EMG/NCS
• Severe pain, arm immobility • Confirms lesion location, assesses severity
(..___s,_G_Ns_&_sv_M_P_TO_M_s_)
C....___ T_R_EA_:T_M_EN_T__ )
• Claw hand OTHER INTERVENTIONS
O Intrinsic hand muscle atrophy - • Physiotherapy, electrical nerve stimulation,
flexion of interphalangeal, extension of occupational therapy
metacarpophalangeal joints
• Repositioning, splinting (extreme damage
• Sensation loss in appropriate dermatome cases)
(medial side of arm), upper-arm weakness
Homer's syndrome
• Ptosis (drooping eyelid)
• Enophthalmos (deep-set eye)
• Miosis (constricted pupil)
• ! sweating on one side of face
188
SCIATICA
osms.i"l/ seio.-lieo.
( PATHOLOGY & CAUSES ) (__ SI_G_NS_&_SY_M_PT_O_M_S_)

• Type of neuralgia following sciatic nerve • Sudden shooting pain onset radiating
along its distribution path from lumbar spine - down leg - areas
• Lumbosacral radiculopathy (spinal nerve innervated by sciatic nerve (side, back)
root disorder) - radicular (radiating, O Mostly unilateral
shooting) pain • Pain may involve lower back, hip, foot
• Most commonly caused by spinal disc • Numbness, muscle weakness, burning
disease - narrowing of neural fora men/ sensation
intraspinal space - disc profusion outside
spinal column border - lumbar/sacral
nerve root compression - nerve irritation ( D_IA_GN_O_s,_s
__ )
• Spinal disc herniation (most common) X-ray, MRI
• Spinal stenosis (spinal canal narrowing) • Confirms disc herniation, stenosis, tumors
• Piriformis syndrome as etiology; determines management
ORare variation of sciatic nerve passing
through piriformis muscle - symptoms OTHER DIAGNOSTICS
• Pregnancy
• Clinically diagnosed
O Due to ligament loosening, shifting of O Straight leg raise test: passive straight
center of gravity pressure on nerve
leg raising between 30-70° while lying
• Nerve tumors (schwannoma), trauma down, produces Lasegue's sign (positive
• Younger individuals if pain present); not very specific
o Infection ° Crossed straight leg raising test: has
higher specificity, not very sensitive
RISI( FACTORS
• Preexisting spinal disorders
( TREATMENT )
• Age: l risk ~-------------~
• Biologically-male individuals MEDICATIONS
• Pain management (nonsteroidal anti-
COMPLICATIONS inflammatory drugs (NSAIDs), opioids)
• Nerve damage, muscle atrophy, immobility,
permanent sensation loss SURGERY
• Spinal disc repair (severe symptoms)
OTHER INTERVENTIONS
• Recommend normal activity
189
THORACIC, OUTLET SYNDROME
osms.i-l/ -lhoTncic-ou-lle-l-s1JndTome
RISI( FACTORS
( PATHOLOGY & CAUSES ) • Coagulation disorders, pregnancy, tumors,
trauma
• Compression of neurovascular bundle in
• Repetitive movement sports (swimming,
space between clavicle, first rib; traverses
handball)
thoracic outlet
° Can result from combination of
developmental abnormalities, injuries, COMPLICATIONS
physical activities that predispose • Stroke (arising from retrograde thrombi);
neurovascular compression deep venous thrombosis; arterial
thromboembolism; atrophy; neural damage,
paralysis; limb ischemia
TYPES
Structures involved
• Neurogenic ( SIGNS & SYMPTOMS )
O Brachia! plexus compressed
• Differ according to structure involved,
O Most common
unilateral presentation more common
• Venous • Neurogenic
O Subclavian vein
, Pain, numbness, paresthesia (tingling),
• Arterial weakness when raising arm, muscle
O Subclavian artery atrophy (thumb muscles)
• Venous
Obstruction areas
, Swollen, painful, cyanotic (blue) arm;
• Anterior scalene
spontaneous edema, may cause
O Inflammation/structural anomaly paresthesia
(multiple attachments) ----> scalene
• Arterial
muscle presses down onto structures,
, Cold, painful, pale arm; ! systolic
brachia! plexus compressed
blood pressure in affected arm,
O Most common
diminished distal pulses, aneurysmal
• Cervical rib change in artery after compression
°Congenital abnormality of additional rib, may----> thrill over subclavian artery;
subclavian vein compressed thromboembolism ----> worsening
O More common in biologically-female symptoms, ischemia
individuals
• Costoclavicular
O All structures may be involved ( D_IA_GN_O_SI_S
__ )
O Second most common
DIAGNOSTIC IMAGING
CAUSES Upper-extremity ultrasound, angiography
• Repetitive rnotion c- chronic inflammation • Shows blood clot formation in vessels;
distinguishes between arterial, venous
• Congenital
etiology
°Cervical rib, supernumerary muscle
insertions
• Neck hyperextensions
190
Chest X-ray
• Identifies bone abnormalities
( T_R_EA_:T_M_EN_T
)
CT scan MEDICATIONS
• Identifies compression areas in greater • Local corticosteroid, anesthetic injections
detail (symptom relief)
• Thrombolysis (in vascular clot cases)
MRI
• Identifies brachia! plexus compression,
contrast displays vessel occlusion level
SURGERY
• Decompression techniques
OTHER DIAGNOSTICS
OTHER INTERVENTIONS
Physical exam • Physical therapy
• Examine limbs for signs of neural, venous/ • Stretching, exercise
arterial insufficiency
• Blood pressure difference between arms
indicates arterial involvement
• Adson test: raising arms above head
induces further compression ---'> distal pulse
diminishment
EMNG
• Confirms neurological dysfunction
ULNAR CLAW
osmsJl/ ullno.'9-elo.w
Cause: usually trauma/repetitive
( PATHOLOGY & CAUSES ) °
movement
• High
• Two medial fingers (fourth. fifth) become
°Cause: regularly leaning against elbows
flexed at interphalangeal level. extended at
metacarpophalangeal level
O Due to ulnar nerve damage, hand CAUSES
resembles "claw" • Prolonged pressure on Guyon's canal
• Prolonged ulnar nerve pathway pressure (where ulnar nerve passes)
---'> nerve injury---'> hand muscle wasting • Trauma
(except thenar. two lateral lumbricals);
flexor carpi ulnaris, flexor digitorum
profundus ---'>fourth.fifth finger flexion
RISI( FACTORS
at interphalangeal joint. extension at • Biologically-male individuals: f BMI
metacarpophalangeal joint • Biologically-female individuals:! BMI
• Cubitus valgus (forearm at pathological
Injury level angle)
• Low • Cycling
O Wrist. damage usually more severe • Leaning against desk
O Lesion site of nerve within wrist area
doesn't influence symptoms
191
• Tool use requiring downward pressure
(musical instruments) (..__ __ D_IA_GN_O_s,_s
__ )
DIAGNOSTIC IMAGING
COMPLICATIONS
• Nerve palsy Ultrasound
• Identifies local inflammation in Guyon's
canal (where ulnar nerve passes)
MRI
• Range in severity from mild intermittent • Identifies nerve thickening
paresthesia to complete sensation loss,
atrophy OTHER DIAGNOSTICS
• Flexion at interphalangeal joints, extension
at metacarpophalangeal Clinical exam
• Weakness, dexterity loss • Identify injury level
, Elbow has different muscles involved
(flexor carpi ulnaris, flexor digitorum
profundus)
, Froment's sign: card gripped using
interphalangeal joints (abductor pollicis
weak)
, Finger abduction, pressing hands
together causes one side to collapse
EMNG
• Identifies neural damage level in fingers
( T_R_EA_:l"_M_EN_T
__ )
SURGERY
• Severe injury
, Nerve decompression at level of
Guyon's canal
OTHER INTERVENTIONS
• Lighter injury
, Physical therapy, occupational therapy
• Splints, avoiding exacerbation
Figure 86.4 A left hand demonstrating an

ulnar claw.
192
WINGED SCAPULA
osmsJl/ winged-seo.pulo.
( PATHOLOGY & CAUSES ) (.____ D_IA_GN_O_s,_s

)
• Abnormal scapula protrusion from back of DIAGNOSTIC IMAGING
chest wall, usually unilateral
X-ray
O AKA scapula alata
• Confirms absence of fractures, structural
• Caused by muscle weakness
irregularities
O Serratus anterior: damage either to
brachia! plexus, long thoracic nerve
(most common) OTHER DIAGNOSTICS
O Trapezius: damage to accessory nerve • Scapular asymmetry, winging
O Rhomboid: damage to dorsal scapular
nerve
• Nerve damage, irritation/muscular
(.____ T_R_EA_:l"_M_EN_T
)
dystrophy - muscle weakness - scapula
elevation from thoracic wall - scapula
SURGERY
winging • Nerve transfer, scapular fixation
RISI( FACTORS OTHER INTERVENTIONS

• Neck lymphadenectomy • May resolve spontaneously
• Neuromuscular disorder • Massage therapy
• Idiopathic = Muscle relaxation
• Traumatic • Physical therapy

O Neck injury, repetitive movement, = Improves shoulder weakness
backpack straps, sleeping in bad
position, surgery
• Non-traumatic
O Viral neuritis (influenza), allergy,
toxic; neuromuscular disorders
(facioscapulohumeral muscular
dystrophy)
COMPLICATIONS
• Compensatory back muscle imbalance
)
• Fatigue
• Neck, shoulder pain
• Scapular winging, shoulder asymmetry
• Muscle weakness, difficulty lifting objects,
Figure 86.5 Winged scapula in an individual
difficulty raising arm above head
with a long thoracic nerve palsy.
193
NOTES
• NOTES
• PNS DEMYELINATING DISORDERS

LAB RESULTS
( PATHOLOGY & CAUSES ) • Guillain-Barre
, Albuminocytologic dissociation in
• Progressive peripheral nervous system
cerebrospinal fluid (CSF)
(PNS) disorders; destruction of myelin,
disruption of motor, sensory function
OTHER DIAGNOSTICS
TYPES • Electromyography (EMG), nerve conduction
studies (NCS)
Charcot-Marie-Tooth disease , I/blocked nerve conduction velocity
• Genetic mutations ----> defective myelin • History, physical examination
sheath, impaired neuronal mitochondrial
function
( T_R_E~_~_M_EN_T__ )
• Acute triggering event (e.g. infection) ----> MEDICATIONS
aberrant autoimmune response ----> myelin
• Guillain-Barre
sheath destruction
, Intravenous immunoglobulin (IVIG)
COMPLICATIONS
SURGERY
Charcot-Marie-Tooth disease • Charcot-Marie-Tooth
• Muscle atrophy, impaired ambulation, foot , Correction of severe skeletal
irregularities irregularities
• Respiratory failure, cardiac arrhythmias,
OTHER INTERVENTIONS
quadriplegia • Charcot-Marie-Tooth
, Genetic testing, orthotics, physical/
occupational therapy
( s,_G_NS_&_SY_M_PT_O_M_s_) • Guillain-Barre
O Plasmapheresis; supportive care (e.g.
• !/absent deep tendon reflexes, paresthesia, respiratory/hemodynamic support)
muscle weakness, ! touch sensation • Pain management
O Acetaminophen, nonsteroidal anti-
inflammatory drugs (NSAIDs),
( D_IA_GN_O_s,_s __ ) gabapentin, carbamazepine
DIAGNOSTIC IMAGING
Gadolinium-enhanced MRI
• Guillain-Barre
O lntrathecal spinal nerve root thickening
194
CHARCOT -MARIE- TOOTH
DISEASE
osms.i"l/Cho.Teo-l-Mo.Tie-Too-lh

)
• Group of hereditary, progressive • Onset in first to third decade of life,
neurological disorders; disruption of PNS depending on type
processes, impaired sensory/motor function • Progressive distal muscle weakness;
• Genetic mutations ----> defective structure, atrophy of hands, feet
function of proteins in myelin sheath/ • Distal sensory loss, paresthesias, loss of
neuron's axon proprioception
• Classification: Types I-VII; Type X (X-linked) • ! deep tendon reflexes, areflexia
O Subtypes based on associated genes • Foot irregularities
and phenotypes ° Foot drop, high arches (pes cavus),
hammer toes, flail foot, cavovarus foot
TYPES • Unsteady gait, toe-walking
Charcot-Marie-Tooth I (CMTl)
• Demyelinating form
° Caused by mutations in PMP22, MPZ
genes (encode for myelin sheath
proteins) ----> ! nerve conduction velocity
O Autosomal dominant/sporadic
inheritance
CMT2
• Axonal form
°Caused by mutations in MFN2 gene
(encodes for mitofusin-2 protein in
neuronal mitochondria) ----> neuronal
death
O Autosomal dominant/recessive
inheritance
RISI( FACTORS Figure 87.1 An MRI scan of the foot of an

• Inheritance of defective gene(s) individual with Charcot-Marie-Tooth disease.
There is wasting of the plantar muscles and
COMPLICATIONS prominent pes cavus as well as a hammer
irregularity of the great toe.
• Muscle atrophy, loss of ambulation;
deafness, intellectual disability, optic
neuropathy, feeding difficulties, hip
dysplasia
195
OTHER INTERVENTIONS
(..__ __ D_IA_GN_O_SI_S ) • Physical/occupational therapy
, Strengthening, range of motion, balance,
OTHER DIAGNOSTICS
maintenance of mobility, activities of
• NCS, EMG
daily living
0 I nerve conduction velocity • Orthotics
• History, physical examination (e.g. age of
onset)
• Genetic testing
( T_R_E~_~_M_EN_T
)
MEDICATIONS
• Pain management
O Acetaminophen, NSAIDs, gabapentin,
carbamazepine
SURGERY
• Correction of severe skeletal irregularities
Figure 87.2 A section of a peripheral nerve
from an individual with Charcot-Marie-Tooth
disease.
*'
GUILLAIN-BARRE SYNDROME
osmsJl/ guille1in-be1TTe-s14ndTome
Variants
( PATHOLOGY & CAUSES ) • Acute inflammatory demyelinating
polyradiculoneuropathy (AIDP)
• Acute, progressive demyelinating PNS
• Miller-Fisher syndrome
disease; sensory, motor, cognitive deficits
O Affects cranial nerves (CN) Ill, IV, VI
• AKA acute inflammatory demyelinating
polyneu ropathy • Acute motor axonal neuropathy (AMAN)
• Abnormal autoimmune response • Acute sensorimotor axonal neuropathy
(AM SAN)
O
Myelin autoantigen picked up by
antigen-presenting cells (e.g. dendritic)
- antigen presented to helper T-cells CAUSES
- production of cytokines - activation • Molecular mimicry between microbe, nerve
of B-cells and macrophages - B-cells antigens
make antibodies. mark autoantigens; , Most commonly associated with
macrophages use antibody markers
Campylobacter jejuni. Mycoplasma
to attack myelin sheath on peripheral
pneumoniae, cytomegalovirus. Epstein-
neurons - I/blocked nerve conduction
Barr. influenza A. Zika, HIV
velocity; axonal degeneration
196
RISI( FACTORS
• Acute infection
( D_IA_GN_O_s,_s
__ )
• i age DIAGNOSTIC IMAGING
biologically male Gadolinium-enhanced MRI (spine)
• Tl-weighted images
COMPLICATIONS • Thickening of intrathecal spinal nerve
roots
• Acute
O lleus, urinary retention, cardiac
arrhythmias, pneumonia, respiratory LAB RESULTS
failure, quadriplegia • CSF
• Long-term • Albuminocytologic dissociation (high
° Chronic fatigue, chronic pain, relapses levels of protein without increase in cell
counts)
• Serum immunoglobulin G (lgG) antibodies
(__ SI_G_NS_&_S_Y_M_PT_O_M_s_) to ganglioside Qlb (GQlb)
• Miller-Fisher
• Variable presentation, depending on
affected nerve
• Bilateral, flaccid, ascending weakness of
OTHER DIAGNOSTICS
limbs, peaking s four weeks • EMG, NCS
• !deep tendon reflexes, areflexia, touch • !/blocked nerve conduction velocity
sensation • History, physical examination
• Paresthesia
• Diaphragmatic weakness - breathing
difficulties (e.g. hypoventilation, requires ( T_R_E~_~_M_EN_T
__ )
mechanical ventilation)
MEDICATIONS
• Autonomic involvement
• IVIG
O Hypertension/hypotension/postural
hypotension, bradycardia • Gabapentin/carbamazepine
O Pain management
• CN involvement
O Blurred vision, dysarthria, abnormal
pupillary response to light OTHER INTERVENTIONS
• Plasmapheresis
• Respiratory/hemodynamic support
197
NOTES
NOTES
• • SPINAL CORD INJ'"URY
( PATHOLOGY & CAUSES ) ( D_IA_GN_O_s,_s )
• Damage/inflammation of spinal cord ---'> loss DIAGNOSTIC IMAGING
of function, sensation
MRI
• Secondary compression of spinal cord
RISI( FACTORS
• Traumatic spine injury, tumours,
inflammatory disease ( T_R_E~_~_M_EN_T )
SURGERY
(_~S_IG_NS_&~SY_M_P_TO_M_s__ ) • Decompression surgery
• Brown-Sequard syndrome (BSS)

° Contra lateral loss of pain, temperature; OTHER INTERVENTIONS
ipsilateral hemiparesis • Stabilize vitals, immobilize acute injuries
• Cauda equina syndrome (CES)
O Severe back pain, sciatica, saddle
anesthesia, incontinence, sexual
dysfunction
198
.;,
BROWN-SEQUARDSYNDROME
(SSS)
osms.i-l/\>Town-seq.uo.Td-s14ndTome
COMPLICATIONS
( PATHOLOGY & CAUSES ) • Progression to complete paralysis
• AKA spinal hemiparaplegia

• Spinal cord hemisection (damage limited to
one half) - paralysis on side of lesion; loss
of sensation on opposite side • Contralateral pain, temperature loss;
• Neurological fallout from damage to spinal ipsilateral hemiparesis, proprioception/
tracts vibration sense loss
° Corticospinal tract: loss of upper motor
neuron innervation - ipsilateral spastic
paralysis, below level of lesion; damage ( D_IA_GN_O_SI_S
__ )
to lower motor neuron at level of spinal
injury - ipsilateral flaccid paralysis of DIAGNOSTIC IMAGING
muscles supplied at spinal level
MRI
O Dorsal column (medial lemniscus):
ipsilateral loss of vibration, • Unilateral spinal cord pathology/
proprioception, fine touch hemisection of spinal cord
O Spinothalamic tract: contralateral loss of
pain, temperature sensation; 1-2 levels
below lesion C T_R_EA_~_M_EN_T
__ )
OTHER INTERVENTIONS
CAUSES • Traumatic injuries
• Spinal fractures, gunshot wounds. Cervical spine/lower dorsal vertebra
°
stab wounds. crush injury, tumours, immobilization

inflammatory diseases
CAUDA EQUINA SYNDROME (CES)

osms.i-l/ eo.udo.-eq.uino.-s14ndTome
CAUSES
( PATHOLOGY & CAUSES ) • Lower back disc herniation. spinal
stenosis, cancer, trauma, epidural abscess/
• Simultaneous compression of multiple
hem atom a
lumbosacral nerve roots below level (L2)
of conus medullaris (distal bulbous part of
spinal cord) - neuromuscular. urogenital
symptoms
199
COMPLICATIONS
• Paraplegia, persistent bowel/bladder
( T_R_EA_:l"_M_EN_T
)
problems, sexual dysfunction, loss of
sensation SURGERY
• Surgical decompression (e.g. laminectomy)
(__ SI_G_NS_&_SY_M_PT_O_M_s_) OTHER INTERVENTIONS

• Red flags (urgent investigation/treatment Sudden onset CES
required) • Medical emergency
O Severe back pain; saddle anesthesia; O Early treatment (< 48hrs) of
incontinence/sexual dysfunction compressive lesions - significantly
• Muscle weakness in lower leg with absent/ better outcomes, prevents progression
reduced deep tendon achilles/patellar reflex to paraplegia
• Gait disturbance
• Sciatica-like pain in one/both legs: low back
pain, radiates down leg
• Numbness in saddle distribution
O Anesthesia/paresthesia of S3-S5
dermatomes - anesthesia/paresthesia
perineum, external genitalia, anus,
perianal region
• Loss of bowel/bladder control
• Absent anal reflex, bulbocavernosus reflex
• Decreased tone of urinary, anal sphincters
• Detrusor weakness - urinary retention/
post-voiding residual incontinence
• Sexual dysfunction
( D_IA_GN_o_s,_s __ )
DIAGNOSTIC IMAGING Figure 88.1 An MRI scan of the spine in
the sagittal plane demonstrating a L4/L5
Spine MRI (with gadolinium contrast) intervertebral disc prolapse compressing the
• Compression of S2-S4 nerve roots by cauda equina. The individual presented with
mass/herniation symptoms of cauda equina syndrome.
Bladder ultrasound
• Post-void residual > 250ml
OTHER DIAGNOSTICS
Clinical examination
• Regional anesthesia, muscle weakness,
abnormal reflexes, abnormal gait
200
NOTES

( PATHOLOGY & CAUSES ) (.____ D_IA_GN_O_s,_s)
• Vision deficit disorders OTHER DIAGNOSTICS
• Correlate with anatomical lesions along • History
visual pathway • Physical/neurologic examination
O Light ----> cornea ----> lens ----> media ----> • Cranial nerve (CN) testing
retina ----> optic nerve ----> chiasmal • CN II: visual fields and acuity
decussation ----> optic radiations (parietal,
• CN 11/111: pupillary reflex
temporal paths) ----> primary visual cortex
• CN Ill/IV/VI: ocular movement
in occipital lobe
CAUSES ( T_R_E~_~_M_EN_T
)
• Mass efrect-« impingement of structures
• Vascular -» brain parenchyma infarction MEDICATIONS
along visual pathway • Vascular: thrombolytics
SURGERY
(__ s,_G_NS_&_S_Y_M_PT_O_M_s_) • Masses: resection
• Impaired vision
201
BITEMPORAL HEMIANOPSIA
osms.i-l/\,l"lemp0Te1l_hemie1nopsie1
• Ophthalmoplegia (especially large mass
( PATHOLOGY & CAUSES ) lesions, pinealomas)
• Hormonal deficiency/excess (if pituitary
• Visional deficit: lateral vision loss
growth is functional)
O Optic chiasm lesions (commonly)
• Pathogenesis: t sellar mass size ---'> presses
optic chlasm=. impinges decussating (..____ D_IA_GN_O_SI_S )
visual fibers (most medial) ---'> bitemporal
hemianopsia DIAGNOSTIC IMAGING
MRI
CAUSES • Visualize mass at area of optic chiasm;
• Pituitary enlargement gadolinium-enhanced images aid
O Hyperplasia (i.e. pregnancy or lactation); elucidating pituitary tissue (l gadolinium
adenoma (specific, hormone-secreting uptake in pituitary)
pituitary hyperplasia); cyst; abscess
• Craniopharyngioma CT scan
• Meningioma (in sella turcica) • Less diagnostic; may reveal sellar
calcification, mass
• Saccular aneurysm (anterior
communicating artery)
• Primary malignancy
C..____ T_R_E~_~_M_EN_T )
O Germ cell tumor (AKA ectopic
pinealoma); chordoma; central nervous MEDICATIONS
system (CNS) lymphoma
• Smaller, hormone-responsive adenomas
(prolactinomas ---'> dopamine agonists first-
COMPLICATIONS line therapy)
• j size e- further impinges surrounding
structures SURGERY
° Cavernous sinus impinqernent -» CN Ill, • Neurosurgery: nasal aperture, posterior
IV, VI---'> diplopia - ophthalmoplegia nasopharynx, sublabial (upper lip) incision
• Dorsal extension of mass ---'> dorsal accesses inferior aspect of cerebrum
midbrain irnpinqernent -» Parinaud's , Fluoroscopic visualization: navigation,
syndrome pituitary visualization
o Upgaze paralysis
• First-line therapy for all other pituitary
O Pinealomas (posterior, common) adenomas, sellar masses with meaningful
visual field impingement/other symptom
severity
(..___s,_G_Ns_&_sv_M_P_TO_M_s
)
• Vision loss
O Lateral fields, both eyes (may go
unnoticed; chronic, progressive)
• Headache
• Diplopia
202
COLOR BLINDNESS
osmsJl/ eolo,--\,lindness

• Altered color perception • Limited color discrimination
• Pathogenesis
O Atypical cone type(s) function-« altered
color hue ---'> limited color discrimination ( D_IA_GN_O_SI_S __ )
(commonly)
O Optic nerve/other retinal lesions • Family, medication history
(uncommon)
OTHER DIAGNOSTICS
CAUSES • Ishihara plates: visual stimuli, colors offer
wavelength-specific stimulation for three
Congenital cone types
• Three cone types (opsins) O Inability to perceive numbers/letters on
O Red, green opsins (X-chromosome): plate---'> reveal cone type deficit(s)
most inherited color blindness X-linked
recessive ---'> predominantly biologically-
male individuals ( T_R_E~_~_M_EN_T__ )
O Blue opsin (VII-chromosome): blue
wavelength deficiency, very rare OTHER INTERVENTIONS
• Associated with Turner syndrome • No curative therapy
• Acquired disease
Acquired
= Glaucoma: regular eye examinations
• Optic neuropathies • Diabetes: glycemic control ---'> !
O Optic neuritis: persistent color blindness microvascular disease; regular eye
after visual deficit restoration; early examinations
multiple sclerosis symptom • Individual education-« lifestyle adaptation
O Diabetic retinopathy: neoproliferation, ---'> proper visual cue interpretation
microvascular disease - retinal • Unable to perceive red vs. green light
dysfunction (glaucoma)
difference on traffic signals - location
• Bilateral, ventral occipital stroke e- cerebral discrimination education ---'> top vs.
achromatopsia (rare) bottom light interpretation
Iatrogenic
• Ethambutol ---'> poor red-green
discrimination
• Digoxin---'> yellowish hue disturbance
• Other
O Ibuprofen, quinine, acetaminophen,
sildenafil citrate, tobacco
COMPLICATIONS
• Nyctalopia: limited night vision
203
CORTICAL BLINDNESS
osmsJl:/ eo,--l:ieo.1-\,lindness

__ )
• Acquired blindness: bilateral lesions to DIAGNOSTIC IMAGING
visual cortex in occipital lobe
MRI
Pathogenesis • Some cases, detects cause (e.g. vascular
• Vascular occlusion occlusion, infarction)
O Bilateral, distal posterior cerebral artery
(PCA) occlusion; commonly embolic OTHER INTERVENTIONS
O Basilar artery occlusion - !blood flow
in bilateral distal PCAs History, physical examination
• Vascular flow dysregulation - posterior • Assess non-cortical functions: normal
reversible encephalopathy syndrome pupillary light reflex
(PRES) , Limited/no visual response with intact
pupillary light reflex - blindness
neurological not ocular
CAUSES
• Primary visual cortex lesions (calcarine Fundoscopy
fissure in occipital lobe) • Normal
O Neighboring lesions - similar anopsia
__ )
• Anton-Babinski syndrome (visual
anosognosia)
MEDICATIONS
• Vascular occlusion: thrombolysis
O Individual unable to perceive vision -
blindness denial • PRES: emergent antihypertensives
O Image confabulation common
OTHER INTERVENTIONS
( SIGNS & SYMPTOMS ) • Spontaneous recovery
, Visual defects may persist (e.g.
prosopagnosia-inability to recognize
• Inability to perceive visual input faces)
• CN testing: 11/111 preserved pupillary light
reflex
204
HEMIANOPSIA
osms.i"l/he mio.nopsio.
O Lesion to non-dominant lobe
( PATHOLOGY & CAUSES ) ----. Gerstmann syndrome (finger
agnosia, acalculia, agraphia, right-left
• Individual loses half of visual field, visualization)
commonly due to retrochiasmatic lesion of
• Temporal lobe lnvolvernent-e seizure
visual tract
Pathogenesis
• Vascular
O Middle cerebral artery (MCA): complete
• Visual field loss
contralateral hemianopia
O Unilateral hemianopia: contralateral
O Unilateral posterior cerebral artery
optic tract lesion (homonymous
(PCA): contralateral hemianopia with
hemianopia); large, contralateral optic
macular sparing
radiation lesion
• Mass O Superior quadrantanopia: contra lateral
O Visual pathway compression temporal lobe lesion of optic radiation
loop
CAUSES O Inferior quadrantanopia: contra lateral
• Unilateral optic tract lesion parietal lobe lesion of optic radiation
loop
• Large (complete) unilateral optic radiation
lesion • Neurologic examination
• Quadrantanopia: sub-complete lesion, ° CN II testing: visual field
corresponds to lesioned optic radiation O Motor/sensory testing for concomitant
O Upper outer-quadrant deficit ("pie-in- symptoms
the-sky" defect) ----. temporal lobe loop
lesion
O Lower inferior quadrant deficit----. (.....___ D_IA_GN_O_s,_s __ )
parietal lobe lesion
• History, physical examination
• Large, unilateral primary visual cortex lesion
O Macular visual field spared
• Bilateral upper/lower visual cortex lesion ----. DIAGNOSTIC IMAGING
altitudinal hemianopia
MRI
O Upper/lower field visual defect
• Mass lesions/old stroke (preferred method)
COMPLICATIONS CT scan
• Vascular/mass effect territory-dependent • Mass lesion and acute, hemorrhagic stroke
• PCA distribution
Diplopia, dizziness, balance issues
O
(.....___ T_R_EA_~_M_EN_T__ )
• Anterior cerebral artery (ACA)/MCA
distribution SURGERY
O lpsilateral motor and sensory symptoms • Resection: mass compressing the visual
• Parietal lobe tnvolvernent-» contralateral pathway
neglect
205
OTHER INTERVENTIONS
O High-power prism segments in regular
spectacle lens---> expands visual field up
to 30°
therapy)
O Individual makes compensatory
saccadic eye movements to side with
lost visibility without moving head ---> j
function, injury prevention
HOMONYMOUS HEMIANOPSIA
osms.i"l/homon14mous-hemio.nopsio.

__ )
• Lesion in optic tract -» vision loss in each • History, physical examination
eye (corresponding halves of visual field)
• Pathogenesis DIAGNOSTIC IMAGING
, Vascular: large MCA/smaller anterior
choroidal artery stroke MRI
, Mass effect: tumor, cyst, arteriovenous • Mass lesions/old stroke (preferred method)
malformation (AVM)
CT scan
• Mass lesion/acute, hemorrhagic stroke
CAUSES
• Unilateral optic tract lesion
( T_R_E~_~_M_EN_T
__ )
( SIGNS & SYMPTOMS ) SURGERY
• Resection: mass compressing the visual
• Half of visual field lost pathway
O Not relieved by monocular vision (vision
deficit persists despite closing one eye)
OTHER INTERVENTIONS
therapy)
206

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Neurology Osmosis HY Pathology Notes ATF

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NEUROLOGY

( PATHOLOGY & CAUSES ) (__ SI_G_NS_&_S_Y_M_PT_O_M_

ORTHOSTATIC HYPOTENSION (OH)

( PATHOLOGY & CAUSES ) (__ s,_G_NS_&_S_Y_M_PT_O_M_s_)

CAUSES OTHER DIAGNOSTICS

( PATHOLOGY & CAUSES ) (..____ D_IA_GN_O_s,_s

( PATHOLOGY & CAUSES ) ( D_IA_GN_o_s,_s__ )

• Exact cause unknown n Audiometrically-confirmed sensorineural

( PATHOLOGY & CAUSES ) (__ SI_G_NS_&_S_Y_M_PT_O_M_

CAUSES • Central vertigo

° Calcified otoliths in posterior

Global ischemia (..____ T_R_E~_~_M_EN_T )

MRI (T2-WI) SURGERY

Two mechanisms of cell death

of brain cellular elements due to water

Deep vein thrombosis • Homonymous hemianopsia

• Esp. immobilized individuals • Cortical blindness (bilateral lesion)

(__ s,_G_NS_&_S_Y_M_PT_O_M_s_) Basilar, vertebral arteries

Absent flow void signal (2 hours);

Tl. T2-WI masked by

Hypo intense Hyperintense

Hypo intense Hyperintense

• More common in individuals who are

, If nondominant hemisphere affected

! flow in large arteries (few minutes) Diffusion-weighted MRI

GENERALLY, WHAT ARE THEY?

( PATHOLOGY & CAUSES ) (__ SI_G_NS_&_S_Y_M_PT_O_M_s_)

SURGERY Figure 65.1 A CT scan of the head in the

CAVERNOUS SINUS THROMBOSIS

CREUTZFELDT -J"Al(08 DISEASE

• Universally fatal prionopathy; spongiform

( PATHOLOGY & CAUSES ) (~~SI_G_NS_&~SY_M_P_TO_M_s_)

Figure 65.4 A histological section of the

MRI with contrast

( PATHOLOGY & CAUSES )

Group 8 streptococcus, E. coli,

Elderly >50 S. pneumoniae. N. meningitidis. L. monocytogenes

HSV-1, -2, VIV,Enteroviruses, Parechoviruses, West Nile virus

Lyme disease, Neurosyphilis, TB

• Extravasation of white blood cells, plasma COMPLICATIONS

onset headache, fever, nuchal rigidity

Cloudy Clear Clear/cloudy Opaque Clear

> 150 > 1000 > 100 50-200

• Preemptive treatment to any close

Figure 65.7 The brain of an individual at post

GENERALLY,WHAT ARE THEY?

( PATHOLOGY & CAUSES ) (__ SI_G_NS_&_S_Y_M_PT_O_M_

• Fourth ventricle obstruction - non- • Bone removal (! brain structure pressure)

CEREBRAL PALSY (CP)

poor movement dystonia, Mixed

Upper motor neuron Cerebellum Basal ganglia Mixed

Posterior fossa enlargement. elevated tentorium, vermis agenesis,

VARIANT Hypoplastic vermis, posterior fossa enlargement, fourth ventricle dilated

MRI, prenatal ultrasound

Figure 66.2 An MRI scan of the head in the

• j CSF ----. j ICP ----. lateral ventricle dilation • l ICP relief

CAUSES COMPLI CATIONS

CLASSIFICATIONOF RETT SYNDROME

EARLY ONSET 6-18 months Decreased playfulness. eye contact reduced/absent

LATE MOTOR Progressive muscle weakness, rigidity, spasticity, scoliosis.

LAB RESULTS OTHER INTERVENTIONS

( PATHOLOGY & CAUSES ) (__ s,_G_Ns_&

OTHER INTERVENTIONS Figure 66.4 An MRI scan of the head in the

( PATHOLOGY & CAUSES ) RISI( FACTORS