Central Nervous System

Cerebral Edema

Definition- the accumulation of excess fluid within the brain

parenchyma
Etiology: occurs when the integrity of the normal blood-brain barrier is
disrupted, allowing fluid to shift from the vascular compartment into
the extracellular spaces of the brain
Epidemiology: two types, which often occur together, particularly after
generalized injury
Brief Pathophysiology: In generalized edema, the gyri are flattened,
the intervening sulci are narrowed, and the ventricular cavities are
compressed
Clinical Manifestation: Symptoms include headache, nausea and
memory problems

Hydrocephalus

Definition- an increase in the volume of the CSF within the ventricular

system
Etiology: most commonly is caused by masses obstructing the
foramen of Monro or compressing the cerebral aqueduct
Epidemiology: If hydrocephalus develops in infancy before closure of
the cranial sutures, the head enlarges
Brief Pathophysiology: a consequence of impaired flow or decreased
resorption of CSF
Clinical Manifestation: Symptoms include headache, impaired vision,
cognitive difficulties, loss of coordination, and incontinence

Herniation

Definition- the displacement of brain tissue from one compartment to

another in response to increased intracranial pressure
Etiology: Caused by increased intracranial pressure
Epidemiology: subfalcine herniations are the most common type of
brain herniation
Brief Pathophysiology: The intra-cranial compartment is divided by
rigid dural folds, if the pressure is sufficiently high, portions of the brain
are displaced across these rigid structures. This herniation often leads
to compromise of the blood supply to compressed tissue, producing
infarction, additional swelling, and further herniation
Clinical Manifestation: compressed tissue, producing infarction,
additional swelling, and further herniation

Intracranial Hemorrhage

Definition- Hemorrhages within the brain

Etiology: caused by hypertension and other diseases leading to
vascular wall injury, structural lesions such as arteriovenous and
cavernous malformations, and tumors
Epidemiology: accounts for roughly 15% of deaths among individuals
with chronic hypertension
Brief Pathophysiology: Blood from an intracerebral hemorrhage
accumulates as a mass that can dissect through and compress
adjacent brain tissues, causing neuronal dysfunction

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Clinical Manifestation: Symptoms include headache and nausea

Hypertensive Cerebrovascular Disease

Definition- Damage to the brain from interruption of its blood supply

Etiology: often is associated with sudden sustained increases in
diastolic blood pressure to greater than 130 mm Hg
Epidemiology: In some instances, minute aneurysms form in vessels
less than 300 µm in diameter
Brief Pathophysiology: causes hyaline arteriolar sclerosis of the deep
penetrating arteries and arterioles that supply the basal ganglia, the
hemispheric white matter, and the brain stem. Affected arteriolar walls
are weakened and are more vulnerable to rupture
Clinical Manifestation: Symptoms include Dizziness, nausea, or
vomiting, severe headache

Vasculitis

Definition- An inflammation of the blood vessels that causes changes

in the blood vessel walls
Etiology: happens when the body's immune system attacks the blood
vessel by mistake
Epidemiology: Affected individuals present with a diffuse
encephalopathy, often with cognitive dysfunction
Brief Pathophysiology: Inflammatory processes involving blood
vessels may compromise blood flow and cause cerebral dysfunction
or infarction

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Clinical Manifestation: Symptoms include fever, fatigue, weight loss,
and muscle and joint pain

Meningitis
Definition- an inflammation of the protective membranes covering the
brain and spinal cord
Etiology: A bacterial or viral infection of the fluid surrounding the brain
and spinal cord usually causes the swelling
Epidemiology: In neonates, common organisms are Escherichia coli
and group B streptococci. In adolescents and young adults, Neisseria
meningitidis is the most common pathogen; in older adults,
Streptococcus pneumoniae and Listeria monocytogenes
Brief Pathophysiology: Lumbar puncture reveals an increased
pressure; examination of the CSF shows abundant neutrophils,
elevated protein, and reduced glucose, untreated pyogenic meningitis
is often fatal
Clinical Manifestation: Symptoms include headache, fever, and stiff
neck

Viral Encephalitis

Definition- Is a parenchymal infection of the brain

Etiology: almost invariably associated with meningeal inflammation
Epidemiology: While different viruses show varying patterns of injury,
the most characteristic histologic features are perivascular and
parenchymal mononuclear cell infiltrates, microglial nodules, and
neuronophagia
Brief Pathophysiology: complex interplay between virulence factors of
the pathogens and the host immune response

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Clinical Manifestation: Symptoms vary, depending on the cause. They
may include fever, confusion, vomiting, seizures, or, if left untreated,
death

Multiple Sclerosis (MS)

Definition- an autoimmune demyelinating disorder characterized by
episodes of disease activity
Etiology: caused by an autoimmune response directed against
components of the myelin sheath
Epidemiology: It is the most common demyelinating disorder, having a
prevalence of approximately 1 per 1000 individuals in the United
States and Europe
Brief Pathophysiology: mildly elevated protein level with an increased
proportion of immunoglobulin
Clinical Manifestation: many different symptoms, including vision loss,
pain, fatigue, and impaired coordination

Alzheimer Disease
Definition- A progressive disease that destroys memory and other
important mental functions
Etiology: the accumulation of two proteins (Aβ and tau) in specific
brain regions, in the forms of plaques and tangles, respectively; these
changes result in secondary effects including neuronal dysfunction,
neuronal death, and inflammatory reactions
Epidemiology: The incidence is about 3% in individuals 65 to 74 years
of age, 19% in those 75 to 84 years of age, and 47% in those older
than 84 years of age
Brief Pathophysiology: most common cause of dementia in older
adults, with an increasing incidence as a function of age

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Clinical Manifestation: Memory loss and confusion are the main
symptoms

Parkinson Disease

Definition- a neurodegenerative disease marked by a hypokinetic

movement disorder
Etiology: caused by loss of dopaminergic neurons from the substantia
nigra
Epidemiology: increasing with age and PD affects 1% of the
population above 60 years
Brief Pathophysiology: associated with protein accumulation and
aggregation, mitochondrial abnormalities, and neuronal loss in the
substantia nigra and elsewhere in the brain
Clinical Manifestation: symptoms are slow movement, stiffness, and
loss of balance

Huntington Disease

Definition- is an autosomal dominant movement disorder

Etiology: is caused by CAG trinucleotide repeat expansions in a gene
located on 4p16.3 that encodes the protein huntingtin
Epidemiology: As in other degenerative diseases, smaller aggregates
of the abnormal protein fragments are suspected to be toxic, these
aggregates have been shown to have a range of potentially injurious
actions, including sequestration of transcription factors, disruption of
protein degradation pathways, and perturbation of mitochondrial
function, it is likely that some combination of these aberrations
contributes to HD pathogenesis

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Brief Pathophysiology: Once the symptoms appear, however, the
course of the illness is not affected by repeat length, further
expansions of the CAG repeats occur during spermatogenesis
Clinical Manifestation: progressive movement, thinking (cognitive),
and psychiatric symptoms

Musculoskeletal

Guillain-Barré Syndrome

Definition- a rapidly progressive acute demyelinating disorder affecting

motor axons
Etiology: triggered by an infection or vaccination that breaks down
self-tolerance
Epidemiology: Treatments include plasmapheresis, intravenous
immunoglobulin infusions, and supportive care, such as ventilatory
support, patients who survive the initial acute phase of the disease
usually recover with time
Brief Pathophysiology: ascending weakness that can lead to death
from failure of respiratory muscles within days of onset of symptoms
Clinical Manifestation: weakness and tingling in the feet and legs that
spread to the upper body

Myasthenia Gravis

Definition- an autoimmune disease with fluctuating muscle weakness

Etiology: caused by autoantibodies that target the neuromuscular
junction

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Epidemiology: The disease has an incidence of approximately 2 in
100,000 persons
Brief Pathophysiology: myasthenia gravis frequently manifests with
ptosis or diplopia because of weakness in the extraocular muscles
Clinical Manifestation: Symptoms include weakness in the arm and leg
muscles, double vision, and difficulties with speech and chewing

Duchenne and Becker Muscular Dystrophy

Definition- An inherited disorder of progressive muscular weakness,

typically in boys
Etiology: Both DMD and BMD are caused by mutations disrupting the
function of the dystrophin gene located on the short arm of the X
chromosome
Epidemiology: The most common muscular dystrophies
Brief Pathophysiology: The increased muscle bulk initially stems from
myofiber hypertrophy, but as myofibers progressively degenerate, an
increasing part of the muscle is replaced by adipose tissue and
endomysial fibrosis. Cardiac muscle damage and fibrosis may lead to
heart failure and arrhythmias, which may prove fatal
Clinical Manifestation: clumsiness and an inability to keep up with
peers because of muscle weakness

Neurofibromatosis Type 1

Definition- an autosomal dominant disorder

Etiology: caused by mutations in the tumor suppressor neurofibromin

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Epidemiology: In addition, patients with NF1 exhibit learning
disabilities, seizures, skeletal abnormalities, vascular abnormalities
with arterial stenoses, pigmented nodules of the iris, and pigmented
skin lesions in various degrees
Brief Pathophysiology: Loss of neurofibromin function and the
resulting Ras hyperactivity
Clinical Manifestation: symptoms of this condition vary widely among
affected people

Traumatic Neuroma

Definition- a nonneoplastic proliferation

Etiology: associated with a previous injury leading to transection of a
peripheral nerve
Epidemiology: injuries activate a regenerative program characterized
by sprouting and elongation of processes from the proximal axonal
stump
Brief Pathophysiology: The misguided elongating axonal processes
can induce a reactive proliferation of Schwann cells, leading to the
formation of a painful localized nodule that consists of a haphazard
mixture of axons, Schwann cells, and connective tissue
Clinical Manifestation: may be associated with paresthesia over the
injured area

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