Pediatric Neurology

Outline
-Headache:
-Seizures and Epilepsy
-Neuromuscular junction: Botulism, myasthenia
-Anterior horn cells: GB syndrome, SMA
-Peripheral nerve: CMT
-Muscle disease: Duchene
-Neurocutaneous disorders: TS, SW, NF
Headache
- most common chief complain in the neurology clinics.
- most important is history and physical exam
- may need additional evaluation such as brain imaging, CSF studies, etc.
- important to differentiate Primary headache from Secondary headache
Headache
Red flags (possible secondary headache)
-Side locked headache
-Headache getting worse with laying down, with Valsalva, with cough or exercise.
-Headache getting worse with standing upright
- Headache waking the patient from sleep.
-New-onset headaches with accompanying features suggestive of meningitis or encephalitis
-Focal neurologic symptoms (eg, seizure, weakness, altered mental status, visual field defect).
-Abnormal exam: focal neurological deficits, papilledema, hypertension, etc.
-Immune compromised patients.
Primary Headache
1) Migraine:
- affects 5% of children.
- Affects males and females equally in young age.
- Pathophysiology in children is similar to adults. Calcitonin gene-related peptide (CGRP) levels are
elevated during migraine attacks.
- Symptoms: headache lasting hours to days, nausea, vomiting, photosensitivity, phonosensitivity,
fatigue, irritability/mood change, visual disturbances.
- Management:
◦ - Lifestyle modifications: Regular sleep. Regular healthy diet. Regular exercise. Good hydration. Avoid
caffeine.
◦ - Cognitive behavioral therapy
◦ - Medications:
◦ Rescue medications: Acetaminophen, NSAIDs, prochlorperazine, Triptans.
◦ Prophylactic medications: Riboflavin, Propranolol, Topiramate, Amitriptyline, etc.
Primary Headache
2) Tension headache :
- affects 5-10% of children.
- Affects males and females equally in young age.
- Generally, not as disabling as migraine.
- Symptoms: headache lasting hours to days, otherwise “featureless”.
- Management:
◦ - Lifestyle modifications.
◦ - Cognitive behavioral therapy
◦ - Medications:
◦ Rescue medications: Acetaminophen, NSAIDs.
◦ Prophylactic medications: usually not needed.
Secondary Headache
Brain Tumor.
Brain bleeding: subdual hematoma, subarachnoid hemorrhage.
Idiopathic Intracranial Hypertension (IIH).
Cerebral venous sinus thrombosis.
Concussion.
Infections: meningitis, encephalitis.
TMJ problem, temporal arteritis, sinusitis.
IIH imaging findings
- IIH: papilledema, Empty sella, slit like ventricles.

- Brain tumor.
Seizure: definition and classification
-Definition: a transient occurrence of signs or symptoms resulting from abnormal
excessive or synchronous neuronal activity in the brain.
Classification of seizures
Evaluation after first seizure:
- Stabilize the patient, ABCS, etc.
- Look for an underlying (provoking) factor and treat accordingly: Hypoglycemia,
hypocalcemia, hyponatremia, head injury, drug ingestion, infection, tumor, etc.

- If unprovoked, will need an EEG for risk stratification.

-One unprovoked seizure+ Nl EEG: risk of recurrence around 40 %
-One unprovoked seizure+ abn EEG: risk of recurrence around 60 %

- If concern for focality per history or exam, will need brain imaging, specifically a brain MRI.
DDX for seizures
● Apnea / ALTE
● GER
● Sleep disorders (sleep myoclonus, night terrors, narcolepsy,..)
● Migraine variants (esp. with aura)
● Breath holding spells
● Syncope
● Movement Disorders (tics, dystonia)
● Psychogenic Non-Epileptic Spells (PNES)
Epilepsy : definition
-The clinical diagnosis of epilepsy usually requires the occurrence of at least one
unprovoked epileptic seizure with either a second such seizure or enough EEG and
clinical information to demonstrate a predisposition for recurrence.
-Epilepsy syndromes: (specific age of onset + specific types of seizures + specific EEG
findings = specific prognosis).
Epilepsy syndromes
Age + seizure semiology + EEG pattern.

Lennox Gastaut syndrome:

- (Age < 8 yr. Multiple seizure types including
tonic, myoclonic, and atypical absence. EEG very
abnormal).
- Treatment : valproate, clobazam, lamotrigine.
- Typically associated with significant intellectual
dysfunction. Refractory to treatment.
Infantile spasms (West syndrome)
- Infantile age onset.
- (Age: infancy + sz: spasms + EEG: Hypsarrhythmia).
- Prognosis variable depending on underlying etiology. Frequently leads to dev delay.
- Severely abnormal EEG pattern: disorganized, discontinuous, high amplitude, multifocal
spikes called hypsarrhythmia.
- Treatment is steroids (ACTH, prednisone) or Vigabatrin.
Childhood absence
-Childhood age onset.
-Age: 4-8 yr + Sz: absence + EEG: generalized 3 Hz spike wave discharges
-Sudden onset of staring, interrupting speech or activity. Occurs multiple times per day.
Short duration (seconds).
- Hyperventilation may provoke a seizure.
-Good prognosis, typically resolves by adolescence.
-Treatment : ethosuximide, lamotrigine, Valproate
Benign Rolandic Epilepsy (BECTS)
--Childhood age onset.
-- Age: 4-11 yr + Sz: focal + EEG: centrotemporal
spikes.
-- Seizures: brief, infrequent, when awake or upon
arousal from sleep, paresthesia on one side of
the tongue or mouth, followed by dysarthria or
gagging, jerking of the ipsilateral face, and
excessive drooling.
-- Good prognosis, resolves by puberty.
-- Treatment: Carbamazepine, oxcarbazepine.
Juvenile Myoclonic epilepsy (JME)
- Adolescent age onset.
- (Age >12 yr + Sz: myoclonic sz (Kelog’s sz)+ EEG: fast spike wave 4-6 hz).
- Mostly affects arms, typically upon awakening.
- Sleep deprivation and flashing lights may provoke seizures.
- Life-long treatment : Lamotrigine, Valproate.
Approach
-Determine the type of seizure
-Determine the type of epilepsy
-Determine the type of epilepsy syndrome
-Determine the etiology (genetic, structural, metabolic, immune, infectious, or
unknown) categories. It is important to note that these categories are not
mutually exclusive.
Treatment of epilepsy
● Anti seizure medication: based on type of epilepsy, and associated co
morbidities.
● Aim for least number of medications, and lowest effective dose, to minimize
side effects.
● 70% become seizure free on monotherapy
● an additional 15% become seizure free on polypharmacy
● 15% remain intractable ( fail 2 or more medications) .
Treatment of epilepsy
● Refractory epilepsy (intractable): failed 2 or more appropriate anti seizure
medications.

● Alternate treatments :
● Ketogenic diet
● Vagal nerve stimulator
● Epilepsy surgery
Febrile seizures:
-Age: 6 months to 5 years. No significant neurological problems.
-Simple: lasted less than 15 minutes. Generalized. Did not recur within 24 hours.
-Complex: last more than 15 minutes, and/or focal, and/or recurred within 24 hours.
-Evaluation after first time febrile seizure: should be directed towards the etiology of the
fever. No tests are done routinely.
-Not treated with daily prophylactic anti seizure medication.
-Antipyretics (both as needed and scheduled) have not been shown to prevent seizures.
-Rectal diazepam (Valium gel, Diastat) may be used as a rescue medication for
prolonged seizures lasting more than 4 minutes.
Status epilepticus
-Definition : ongoing seizure activity for more than 5 minutes, or recurrent seizures
with no return to baseline for more than 30 minutes.
-Evaluation and treatment:
● ABC’s
● Vital signs
● Glucose (+/- electrolytes).
● Other tests based on clinical picture.
● Treat with benzodiazepine, valproate, phenytoin, phenobarbital , etc.
Neonatal seizures
Seizures between birth and 28 days.
Etiology:
◦ - Metabolic disturbances
◦ - HIE
◦ - Intracranial hemorrhage
◦ -Infections
◦ -IEOM
◦ - Neonatal epilepsy syndromes
◦ - Congenital brain malformations.

Types: focal tonic, focal clonic, myoclonic.

Management: treat underlying cause, PB, Levetiracetam.
UMN vs LMN
Spinal muscular atrophy
● Happens due to mutations in the survival motor neuron (SMN) gene.
● Leads to degeneration of the anterior horn cells.
● Presentation of type 1 SMA:
-Prenatal – decreased fetal movements
-Neonatal / early infancy
● Severe hypotonia
● Breathing / swallowing difficulties
● Absent reflexes
● Tongue fasciculations
● No face / eye weakness
● Death is from respiratory failure within about 12 months.
● Treatment : supportive, gene therapy.
Guillain Barre Syndrome (GBS)
-Happens when an event (such as an infection) evokes an immune response,
which in turn cross-reacts with peripheral nerve components leading to
polyneuropathy (can be directed either toward the myelin or the axon of
peripheral nerve).
-Common triggers: infections (in 2/3 of cases), including Campylobacter (in 1/3
of cases), CMV, EBV, Mycoplasma pneumoniae, and influenza-like illnesses. Other
triggers may include immunization (such as influenza vaccine), surgery, or trauma.
Guillain Barre Syndrome (GBS)
-The main type of GBS is AIDP. Other types include axonal neuropathy, and variants that
affect cranial nerves (Miller Fisher) .
-The classic presentation of AIDP begins with paresthesia in the toes and fingertips
followed by lower extremity symmetric weakness that may ascend over hours to days to
involve the arms and, in severe cases, the muscles of respiration. Pain may be a
prominent symptom in young kids. It is associated with decreased or absent deep
tendon reflexes.
-Nadir of symptoms:
Acute 4 weeks
Subacute 4-8 weeks
Chronic (CIDP) more than 8 weeks.
Guillain Barre
Work up:
CSF: cyto-albuminologic dissociation.
NCS: conduction block in AIDP.
MRI with contrast: nerve root enhancement.
Antibodies: against GQ1b, in the Miller Fisher variant.

Treatment:
- Supportive.
- May use IVIG or plasma exchange
- Steroids generally not helpful and may be harmful.
CMT Charcot Marie Tooth
● Hereditary.
● Distal weakness. Decreased sensation. Absent deep tendon reflexes.
● High arched foot. Hammer toes . Distal muscle atrophy (inverted Champagne sign).
● Nerve conduction studies – to identify delayed motor and sensory nerve conduction
velocities seen in neuropathy.
● EMG (electromyography) helps in differentiating myopathic from neuropathic
disorders.
● DNA testing – for abnormal genes. More than half of all cases of CMT are caused by a
duplication of the PMP22 gene on chromosome 17.
Infantile Botulism
- It occurs when C. botulinum spores are ingested,
colonize the host’s GI tract, and release toxin
produced in vivo.
- It classically been associated with the ingestion of
raw honey, but this is not the most common cause.
Most cases are thought to result from ingestion of
environmental dust and soil containing spores.
- Age: 1 wk to 1 yr. Mostly 2-8 months of age.
- History: descending paralysis. Muscles innervated
by the cranial nerves are affected first, followed by
those of the trunk, extremities, and diaphragm.
Pre synaptic
Infantile Botulism
- Infants typically present with constipation and poor feeding, followed by progressive
hypotonia and weakness, with loss of deep tendon reflexes.
- Cranial nerve dysfunction is manifested by decreased gag and suck, diminished range
of eye movement, pupillary paralysis, and ptosis.
- Autonomic signs include decreased tearing and salivation, fluctuating heart rate and
blood pressure, and flushed skin. may present with or progress to life-threatening
respiratory failure requiring ventilator support.
- Diagnosis: mostly clinical. It is supported by the isolation of C. botulinum spores from
the stool and is confirmed by the identification of botulinum toxin in stool samples. May
be difficult to get stool samples with constipation, and the test results take time. May
consider NCS.
- Treatment: supportive. Botulism immune globulin intravenous (BIG-IV or BabyBIG), a
human-derived botulinum antitoxin should be administered as early as possible
Myasthenia Gravis
- It is an antibody-mediated autoimmune disease that affects the postsynaptic neuromuscular
junction.
-Typically presents in a slowly progressive fashion. Most common symptoms include ptosis and
diplopia. These symptoms are generally exacerbated by activity and relieved by rest (fatigability).
-Transient neonatal myasthenia affects 10 to 15 percent of babies born to mothers with
myasthenia gravis. It can lead to weakness, dysphagia, and occasionally, respiratory distress or
failure.
-There are also congenital forms of myasthenia, and these are not autoimmune mediated.
-Diagnosis: ice pack test, edrophonium test: no longer used. Antibody tests: Anti AChR, and anti
MuSK antibodies. May consider NCS/EMG.
-Treatment: supportive, pyridostigmine, immunotherapy, thymectomy.
Myasthenia Gravis
-Diagnosis: ice pack test, edrophonium test: no longer used. Antibody tests: Anti AChR,
and anti MuSK antibodies. May consider NCS/EMG.
-Treatment: supportive, pyridostigmine, immunotherapy, thymectomy.

Post synaptic
Duchene muscular dystrophy
● Caused by a defective DMD gene located on the X chromosome that is responsible for
the production of dystrophin. (X-linked recessive).
● It leads to progressive proximal muscle weakness.
● Other symptoms: cardiomyopathy, cognitive dysfunction.
● Exam: +ve Gower’s sign. Pseudohypertrophy of the calf muscle.
● Work up :
● Serum CK: elevated in Duchenne and Becker muscular dystrophy.
● Muscle biopsy: confirms the diagnosis, no longer used.
● DNA testing – to identify the pathogenic mutation.
● Treatment: supportive. Steroids. Gene therapy (converts DMD to BMD)
Neurocutaneous Syndromes
● Neurofibromatosis
● Tuberous Sclerosis
● Sturge Weber
Neurofibromatosi
s
 CAL

Neurofibroma

CAL

Axillary Freckling
Pseudarthrosis

Sphenoid Bone Hypoplasia

Scoliosis
 Optic Glioma
Lisch Nodules
Bilateral vestibular schwannoma and meningiomas
Tuberous sclerosis
● Autosomal dominant
● Incidence 1: 10,000 live births
● TSC1: Chromosomes 9 (hamartin)
● TSC 2: Chromosome 16 (tuberin)
TS
 “Ash Leaf”
Spot

Shagreen Patch

Adenoma
Sebaceum
 SEN and SEGA

Cortical Tubers
Sturge Weber Syndrome

(Ophthalmic division)

of the GNAQ gene
 Port Wine Stain

Buphthalmos with enlarged globe Leptomeningeal Vascular Anomaly

Corneal clouding