Metabolics

Question 1

In which metabolic conditions is sodium valproate contraindicated?

Answer 1

Urea cycle defects

Question 2

Which anti-convulsants should be avoided in juvenile myoclonic epilepsy?

Answer 2

Carbamazepine > phenytoin > lamotrigine

Question 3

First line treatment for juvenile myoclonic epilepsy?

Answer 3

Sodium valproate

Question 4

Seizure disorder associated with gene PRRT2

Answer 4

Self-limiting and familial infantile seizures

Question 5

Seizure disoroder associated with gene GABRA1

Answer 5

Juvenile myoclonic epilepsy

Question 6

Seizure disorder associated with gene SCN1A

Answer 6

Dravet

Question 7

Which anti-convulsant is contraindicated in people of Han Chinese descent?

Answer 7

Carbamazepine

Question 8

Why should sodium valproate not be used in kids < 2 yrs

Answer 8

Risk of fatal hepatic toxicity

Question 9

1st line anti-convulsant for infantile spasms

Answer 9

Vigabatrin

Question 10

Features of Dandy Walker malformation

Answer 10

Hypoplasia of the cerebellar vermis
Enlargement of the 4th ventrile
Signs: hydrocephalus, sun downing, irritability, sleepiness

Question 11

Meningocele v myelomeningocele

Answer 11

Meningocele - meninges herniate through a defect in the posterior vertebral arches
Myelomeningocele - meninges and spinal cord herniate (assoc/w LL weakness +/- bowel/bladder dysfunction)

Question 12

What’s a diastematomyelia

Answer 12

Spinal cord split by a bony or fibrous structure, resulting in symptoms of tethered cord (limb weakness, back pain, scoliosis). Often associated with vetebral abnormalities