Pediatric Neurology

what is epilepsy?

-condition characterized by 2+ seizures that occur > 24hr apart

how are generalized seizures different from focal seizures?

-generalized = arise from both hemispheres simultaneously

-focal = arise from 1 region of cortex

what are the types of generalized seizures?

-non-motor → absence

-motor → tonic-clonic, grand-mal

how do absence seizures present?

-loss of awareness for < 30s

-no aura or post-ictal impairment

how do tonic-clonic / grand-mal seizures present?

-stiffening of body

-LoC

-rhythmic bursts of movement in all 4 extremities

-(+) post-ictal state

how do focal seizures present?

-abnormal sensation

-autonomic Sx

-abnormal thought

-involuntary movement

what are focal onset aware seizures?

-focal Sx + no LoC

what are focal onset impaired seizures?

-focal Sx + LoC

how does juvenile myoclonic epilepsy present?

-generalized seizures with myoclonic jerking in the mornings

how is epilepsy diagnosed?

-clinical Hx

-labs (if suspicious for a certain cause)

-imaging:

• EEG
  MRI

what is the Tx for epilepsy?

-ABCs & patient protection

-pharm:

• anti-seizure meds

  • phenobarbital

  • valproic acid

  • carbamazepine

  • phenytoin

  • levetiracetam (Keppra)

  • continue until patient is seizure-free for 1-2yr

when would you give benzodiazepines for a seizure?

-seizure duration > 5min or > 6 seizures/1hr

how does infantile epileptic spasms syndrome present?

-phase 1 = sudden brief contractions of muscles for < 2s

-phase 2 = tonic contractions for 2-10s

-(+/-) other genetic conditions

how is infantile epileptic spasms syndrome diagnosed?

-imaging:

• EEG

  • if (+) → MRI

what is the Tx for infantile epileptic spasms syndrome?

-pharm:

• corticotropin (ACTH)

• prednisone

what is status epilepticus?

-recurrent generalized seizures that occur at a rate doesn’t allow for consciousness to be regained between seizures

what are possible complications of status epilepticus?

-hyperthermia

-acidosis

-renal failure

-circulatory collapse

-death

what is the Tx for status epilepticus?

-pharm:

• lorazepam 0.1mg/kg IV or IO or diazepam 0.2mg/kg IV or IO

• if seizure continues for 5-10min → 2nd dose of benzodiazepine

• if seizure continues for 10-15min → anti-seizure med

• if seizure still continues → ICU admission

what is the maximum dose of lorazepam for pediatric patients?

-4mg

what is the maximum dose of diazepam for pediatrics?

-10mg

what anti-seizure medications are used for status epilepticus?

-phenobarbital 20mg/kg IV or IO

-levetiracetam 60mg/kg IV or IO

what causes febrile seizures?

-rapid spike in body temp (typically due to viral illness)

what is the MC convulsive disorder of childhood?

-febrile seizures

what is an uncomplicated febrile seizure?

-generalized motor seizure for < 15min

-occurs 1x in 24hr

-child is neurologically/developmentally normal

what is a complicated/complex febrile seizure?

-seizure with focal features for > 15min

-occurs > 2x in 24hr

-child has preexisting neuro problems

what is the proper evaluation for febrile seizures in a patient < 3mo?

-LP + full sepsis workup

what is the proper evaluation for febrile seizures in a patient 3-12mo?

-(+/-) LP & full sepsis eval

-based on H&P

what is the proper evaluation for febrile seizures in a patient > 12mo?

-based on H&P

what is the proper evaluation for a complex febrile seizure?

-EEG & CT or MRI

what is the Tx for febrile seizures?

-pharm:

• (+/-) rectal diazepam gel

-treat underlying cause

what is Tourette syndrome?

-repetitive movement or sound (tic) disorder

what are common examples of simple tics?

-eye blinking

-shoulder shrugging

-grunting

what are common examples of complex tics?

-touching objects

-stepping in a certain pattern

-hopping

-obscene words

-repeating words/phrases

how is Tourette syndrome diagnosed?

-clinical

• motor & vocal tics for > 1yr

what is the Tx for Tourette syndrome?

-patient reassurance & education

-pharm:

• 1st line = clonidine or guanfacine

• topiramate for patients with concurrent headaches or epilepsy

-comprehensive behavioral intervention for tics

when would topiramate be chosen for medical management of Tourette syndrome?

-patient has concurrent headaches or epilepsy

what is an astrocytoma?

-tumor of glial cells

how does CNS neoplasms present?

-lethargy

-headache

-vomiting

-ataxia

-loss of milestones being met

-seizures

how are CNS neoplasms diagnosed?

-imaging:

• MRI

what is the Tx for CNS neoplasms?

-pharm:

• steroids

• chemo

-procedural/surgical:

• surgery

• radiation

what is a glioblastoma?

-highest grade (III-IV) astrocytoma

what is the Tx for a glioblastoma?

-procedural/surgical:

• pre-surgery = radiation → surgical decompression

what is a neuroblastoma?

-tumor derived from crest cells typically on adrenal gland

when are neuroblastomas typically found?

-20mo

how do neuroblastomas present?

-firm abdominal mass that crosses midline

-fever, malaise, weight loss

-bone pain

-”dancing eyes & feet”

-bilateral “black eyes” if metastatic

how are neuroblastomas diagnosed?

-imaging:

• abdominal x-ray = calcifications

• CT for staging

-labs:

• urine catecholamines

-biopsy = definitive

what is the Tx for a neuroblastoma?

-procedural/surgical:

• surgery

• chemo &/or radiation

when does a patient with a neuroblastoma have the best prognosis?

< 1yo

which neuropores close last during embryonic development?

-anterior

-posterior

what are risk factors for neural tube defects?

-low folic acid during pregnancy

what is anencephaly?

-absence of brain, skull, & scalp leading to incompatibility with life

what is spina bifida occulta?

-spinal cord defect where meninges do NOT herniate thru spinal cord (+/-) tethered cord

what is a meningocele?

-herniation of meninges thru spinal opening

what is a myelomeningocele?

-herniation of meninges & spinal cord thru spinal opening

how does spina bifida occulta present?

-hair tuft or sacral dimple

-no disability unless cord is tethered

how are neural tube defects diagnosed?

-imaging:

• US in utero

• after birth = US of region + MRI of head & spine

how do myelomeningoceles/meningoceles present?

-dependent on spinal cord level → (+/-) club feet, dislocated hips, neurogenic bowel/bladder, hydrocephalus, paralysis

what lab studies can be used to screen for neural tube defects during pregnancy?

-AFP = high

-amniotic fluid acetylcholinesterase = high

what is the Tx for neural tube defects?

-multidisciplinary supportive care

how does a concussion present?

-headaches

-difficulty concentrating

-confusion

-light & noise sensitivity

-N/V

-infants: excessive crying, excessive tired, changes in eating or sleeping

what is post-concussion syndrome?

-Sx constellation of headaches, dizziness, & cognitive difficulty that develops a few days after a concussion & can last weeks-months

how is a concussion diagnosed?

-clinical + cognitive evaluation

-imaging

• (+/-) CT or MRI (rarely needed)

what are the indications for imaging with a suspected concussion?

-AMS

-prolonged LoC

-repeated vomiting

-severe headache

-signs of skull fracture

-focal neuro deficit

what are commonly used tools for concussion diagnoses?

-SCAT5

-Child-SCAT5 (patients 5-12yo)

what is the Tx for a concussion?

-supportive

• rest

• acetaminophen as needed

  • NO NSAIDs

what is an athlete’s return to play progression when recovering from a concussion?

-each step lasts 24hr

1. no activity

2. light aerobic exercise

3. sport-specific exercise

4. non-contact training

5. full contact practice

6. return to play

what is Bell’s palsy?

-unilateral facial paralysis due to CN VII (facial nerve) palsy

how is Bell’s palsy diagnosed?

-clinical (Dx of exclusion)

how does Bell’s palsy present?

-acute unilateral facial weakness/paralysis involving forehead & eye closure

-duration up to 6mo

what is the Tx for Bell’s palsy?

-supportive

• eye drops

• inspection for eye injuries 3x/day

-pharm

• prednisone 2mg/kg QD x 5 days → 5 day taper

how does Guillain-Barre syndrome present?

-Hx of infection

-areflexia

-ascending weakness beginning in LE

-irregular BP

-irregular HR

how is Guillain-Barre syndrome diagnosed?

-clinical

-labs

• LP + CSF analysis = elevated protein

-EMG

what is the Tx for Guillain-Barre syndrome?

-supportive

-procedural/surgical

• plasma exchange

• intubation for mechanical ventilation

-pharm

• IVIG

what is Charcot-Marie-Tooth disease?

-hereditary motor & sensory neuropathy involving demyelination of distal limbs

how does Charcot-Marie-Tooth disease present?

-pes cavus

-Achilles hyporeflexia or areflexia

-lower leg weakness & atrophy

-sensory loss of hands/feet

how is Charcot-Marie-Tooth disease diagnosed?

-labs

• genetic testing

-NCS

what is the Tx for Charcot-Marie-Tooth disease?

-supportive

• bracing for support

• PT

• OT

what is hypotonia?

-diminished resistance to passive movement around a joint

how does hypotonia present?

-head lag > 3mo old

-Landau posture: U shape in prone position

how does benign congenital hypotonia present?

-onset: 6-12mo

-delayed motor skills with NORMAL verbal/social skills & normal strength

-(+) head lag

-(+) floppy tone

-(+) slip thru

-*catch up to peers by 3yo

how is benign congenital hypotonia diagnosed?

-clinical (Dx of exclusion)

what is infantile progressive spinal muscular atrophy?

-progressive muscle wasting & mobility impairment with respiratory muscle involvement

how does infantile progressive SMA present?

-proximal muscle weakness

-hyporeflexia or areflexia

-inability to sit up w/o support

how is infantile progressive SMA diagnosed?

-labs

• genetic testing

what is the Tx for infantile progressive SMA?

-supportive

• multidisciplinary care

-gene therapy

what is the hallmark pathophysiologic feature of myasthenia gravis?

-antibodies to ACh receptor at NMJ

how does myasthenia gravis present?

-ptosis

-diplopia

-ophthalmoplegia

-weakness of jaw, face, & extremities

-worsening of Sx throughout day

how is myasthenia gravis diagnosed?

-labs

• anti-ACh receptor antibody serum testing

-imaging

• CT or MRI for suspected thymoma

what is the Tx for myasthenia gravis?

-pharm

• pyridostigmine

• prednisone

what is neonatal transitory myasthenia gravis?

-infant born to myasthenia gravis (+) mother

how does neonatal transitory myasthenia gravis?

-Sx duration < 10 weeks

-poor feeding

-ptosis

-hypotonia

what is the Tx for neonatal transitory myasthenia gravis?

-pharm

• PO pyridostigmine

how does congenital muscular dystrophy present?

-hypotonia

-hyporeflexia

-proximal weakness

-poor muscle bulk

what is the inheritance pattern of congenital muscular dystrophy?

-X-linked recessive (males)

what is the difference between Duchenne & Becker muscular dystrophy?

-Duchenne: no dystrophin

-Becker: abnormal dystrophin

how does DMD present?

-onset: 2-3yo

-awkward waddling gait

-difficulty running

-calf pseudohypertrophy

-proximal leg weakness

-(+) Gower sign

how is congenital muscular dystrophy diagnosed?

-labs

• elevated serum CPK

what is the Tx for DMD?

-supportive

• PT

• multidisciplinary care

-pharm

• glucocorticoids

-gene therapy

how does cerebral palsy present?

-gross motor developmental delay

-early hypotonia → spasticity

-hyperreflexia

-persistence of primitive reflexes

how is cerebral palsy diagnosed?

-imaging

• MRI