Neurology

Question 1

Wilson’s disease: Serum copper, ceruloplasmin, urine copper levels? Inheritance?

Answer 1

Low serum ceruloplasmin, low serum copper, high urine copper. Autosomal recessive.

Question 2

Telangectasias of conjunctiva, cheeks, ears. Also with difficulty learning to walk/ataxia, frequent lower URI infections. Inheritance?

Answer 2

Autosomal recessive

Question 3

Older child/adolescent with elevated plantar arch, absence of LE deep tendon reflexes, difficulty walking, diabetes, and cardiomyopathy. Inheritance?

Answer 3

Friedreich Ataxia. Autosomal recessive

Question 4

2 yo with fixed upward gaze. No seizure/LOC and vital signs normal. What drug to give before ingestion is confirmed?

Answer 4

Think promethazine causing dystonic reaction –> tx with benadryl

Question 5

Temporal wasting, tenting of upper lip, arthrogryposis of feet, cataracts, myotonia. Inheritance?

Answer 5

Myotonic dystrophy (Steinert disease). Autosomal dominant.

Question 6

Fever, sudden onset paralysis, bladder dysfunction, CSF with many neutrophils but negative bacteria. What is first study to perform?

Answer 6

Acute transverse myelitis. 1st study should be MRI with gadolinium.

Question 7

Infant with hypotonia, poor suck, tongue fasciculations. Inheritance?

Answer 7

Werdnig-Hoffman Disease (SMA type 1). Degeneration of anterior horn cells. Autosomal recessive.

Question 8

EEG with 3 per second spike and wave

Answer 8

Absence Seizures

Question 9

Treatment of infantile spasms

Answer 9

ACTH

Question 10

Treatment of simple partial seizures

Answer 10

Carbamazepine

Question 11

Treatment of juvenile myoclonic epilepsy

Answer 11

valproic acid

Question 12

Child with hx blunt trauma to chest and unilateral hemiparesis. Best diagnostic study?

Answer 12

Carotid angiography to r/o carotid dissection

Question 13

Multiple seizure types, intractable to meds, developmental delay/regression, and EEG with slow spike wave

Answer 13

Lennox-Gastaut Syndrome

Question 14

Retinitis pigmentosa, acanthocytosis, ataxia, poor growth with steatorrhea. Treatment?

Answer 14

Abetalipoproteinemia. Tx Vitamin E

Question 15

Typical opening pressure in pediatrics

Answer 15

<280 mmHg

Question 16

Newborn with absence of the sacrum. Associated with what maternal disorder?

Answer 16

Diabetes mellitus type 1 is associated with caudal regression syndrome

Question 17

What does the CSF look like in transverse myelitis?

Answer 17

Moderate lymphocyte pleocytosis and normal or slightly elevated levels of protein