Pediatric neurology

Question 1

febrile seizure

Answer 1

6mos- 6yrs old
occuring in absence of CNS infection or seizure history

fever> 102/38.9 (can treat with acetaminophen before this happens)
rapid rise in T
tonic-clonic seizure

Question 2

childhood hydrocephalus

Answer 2

communicating or noncommunicating
bulging fontanelles, increased head growth, dilated scalp veins

lethargy, vomiting, poor appetite, irritability, HA, diplopia, paplledema, poor skull suture fusion

Check LP if you suspect infection
Dx: US, CT, MRI will show expanded ventricles

Treatment: acetazolamide, furosemide, surgical shunting

epilepsy, infection 2/2 shunt
50% mortality before age 3 without treatment

increased risk with Dandy Walker and Arnold Chiari II malformations

Question 3

Arnold Chiari malformation type 1

Answer 3

downward displacement of cerebellar tonsils and medulla through foramen magnum

MC, often asx
manifestations include HA and/or cerebellar sx

Question 4

Arnold Chiari II

Answer 4

downward displacement of cerebellar tonsils and medulla through foramen magnum
usually accompanied by other neuro anomolies

Question 5

malformations associated with arnold chiari

Answer 5

hydrocephalus
syringomyelia
myelomeningocele

Question 6

NTD

Answer 6

spina bifida occulta- dura is sealed off, but vertebra not, no herniation

Meningocele-
herniation of meninges but not spinal cord

Meningomyelocele- herniation of cord and meninges through the vertebral column, which isn’t fully formed. expanded subarachnoid space

Anencephaly
failure of cranial neural tube to close

diagnosed by increased amniotic Acetylcholinesterase and AFP on appropriately- timed quadruple screen during pregnancy

may also be seen on fetal US

Question 7

pregnant or childbearing age- how much folic acid to take?

on anticonvulsant therapy (carbamazepine, valproic acid)?

Answer 7

400 mcg/day = 0.4mg/day

4mg/day

Question 8

what are the components of a quad screen?

Answer 8

aFP (elevated in abdominal wall defects and NTD, decreased in Down)
beta HCG
estriol
inhibin A

Question 9

complications of NTD

Answer 9

increased risk of UTIs and CNS infection

hydrocephalus

Question 10

Tay- Sachs disease

Answer 10

Ashkenazi Jews, French Canadian
Cherry red spots on retina

AR
hexosaminidase A (ganglioside metabolism)

poor alertness, hyperacute hearing, poor development after the first few months of life

vision loss, progressive paralysis, changes in mental status

death within a few years

Question 11

cherry red spots on the retina

Answer 11

Tay Sachs
Niemann Pick
Retinal artery occlusion

Question 12

risk factors for cerebral palsy

Answer 12

risk factors:
prematurity
IUGR
Birth trauma
neonatal seizures
cerebral hemorrhage
perinatal asphyxia
multiple births
intrauterine infection

Question 13

2 types of cerebral palsy

Answer 13

spastic (pyramidal tracts)

dyskinetic (extrapyramidal)

Question 14

Retinoblastoma

Answer 14

Rb gene mutation (also linked to osteosarcoma)
white eye reflex
MRI, US to determine size
(do not use CT in a patient with high risk of germinal disease)

Treatment- enucleation, or radiation if both eyes, cryotherapy, laser photocoagulation, chemotherapy

prognosis good if vision loss has not occured.