Meh. UW bullet cases 11 NEURO

Question 1

M. Newborn + cystic dilation of 4th ventricle + absent cerebellar vermis; Dx?

Answer 1

Dandy-Walker syndrome.

Question 2

M. Newborn + myelomeningocele + downward herniation of cerebellar vermis; Dx?

Answer 2

Arnold-Chiari
malformation (term only applies to Chiari type II).

Question 3

M. 18M + bilateral loss of pain and temperature sensation; Dx?

Answer 3

syringomyelia (can be seen secondary to syrinx from Chiari type I [less severe and presents later than type II]).

Question 4

M. 3F + viral infection + fever + tonic-clonic seizure; Dx?

Answer 4

febrile seizure

fever can precipitate idiopathic seizure in 2-4% of children ages 6 months – 5 years; there is about a two-fold risk progression to epilepsy compared to general population

Question 5

M. 3F + viral infection + fever + tonic-clonic seizure; Tx?

Answer 5

benzodiazepine

Question 6

M. 13M + tonic-clonic seizure + 4-month Hx of hypnagogic/hypnopompic jerking of left arm + uncle has epilepsy; Dx?

Answer 6

juvenile myoclonic epilepsy

genetic with unclear inheritance pattern; characterized by myoclonic jerks (usually hypnagogic and/or hypnopompic) that progress to tonic- clonic seizures after several months; age of onset is usually 10-16, but can also start in adulthood

Question 7

M. 13M + tonic-clonic seizure + 4-month Hx of hypnagogic/hypnopompic jerking of left arm + uncle has epilepsy; Dx = juvenile myoclonic epilepsy. Tx?

Answer 7

valproic acid.

Question 8

M. 4F + few-month Hx of near-daily seizures + seizures typically occur while she’s sleeping + has started putting objects in her mouth and making less eye contact + seizures not responding to anti-epileptic meds; Dx?

Answer 8

Lennox-Gastaut syndromeàsevere childhood-onset epilepsy characterized by near-daily seizures and cognitive decline (hyperoralism is a sign of cognitive regression [babies put things in their mouths]); poor prognosis, with 5% mortality rate in childhood; 80-90% persistence of seizures into adulthood.

Question 9

M. 10-month old boy + jerking movements of the limbs + EEG shows chaotic high-amplitude spikes with no recognizable pattern; Dx?

Answer 9

West syndrome (infantile spasms)

Question 10

M. West syndrome (infantile spasms)
triad of spasms + hypsarrhythmia on EEG (no recognizable pattern with high amplitude spikes) + developmental regression; international definition of the diagnosis requires two out of three; starts age 3-12 months; seen in 1-5% of Down syndrome kids;

Tx?????? !!!

Answer 10

Tx = ACTH, prednisolone, or vigabatrin;

ACTH is thought to act by two mechanisms:
1) stimulates steroid (cortisol) release;
2) direct (cortisol-independent) effect on melanocortin receptors.