Nutritional and Metabolic Disorders

Question 1

What accumulates in Gaucher? How is it inherited?

Answer 1

glucosylceramide

auto recessive

Question 2

Trihexosylceramide accumulates in what disease?

Answer 2

Fabry

Question 3

After longstanding hepatic disease you would see changes in what type of brain cells?

Answer 3

Alzheimer type II astrocytes

Question 4

with HTN encephalopathy what change would you see in CSF

Answer 4

maybe slight increase in protein (~<100 - this is variable)

with resolution of HTN the protein will decrease

Question 5

list some treatments for restless leg.

what should be avoided in restless leg?

Answer 5

clonazepam, gabapentin, l-dopa, dopamine agonists, and opiates may help

Neuroleptics, CCBs, and caffeine may worsen symptoms

Question 6

In a person with kidney failure on long term dialysis, what is best treatment for peripheral neuropathy?

Answer 6

renal transplant

Question 7

When testing for B12 deficiency what lab should you check?

Answer 7

Methylmalonic acid

Question 8

what areas of the spinal cord are damaged with B12 (cobalamin) deficiency?

Answer 8

lateral and posterior columns

Question 9

what visual feild defect develops with longstanding B12 deficiency?

Answer 9

centrocecal scotoma

Question 10

methotrexate interferes with metabolism of what compound during DNA synthesis?

Answer 10

folate.

results in megaloblastic anemia

Question 11

Alcoholic pt admitted, what do you give in hopes to prevent seizures from withdrawal?

Answer 11

Chlordiasepoxide at high doses 4-6 times per day then wean down once window for seizure has passed

Question 12

triad of dementia, gait difficulty, and oculomotor paresis is characteristic of what?

Answer 12

Wernicke encephalopathy

caused by thiamine deficiency

Question 13

who would get a nicotinic acid deficiency?

Answer 13

A pt with limited diet high in corn and low in fats –> pellagra due to deficient tryptophan (nicotinic acid needed to make tryptophan)

Question 14

gait difficulty, bladder dysfunction, paresthesias, hyporeflexia, impaired position/vibration, anemia suggests what? hint smear shows hypersegmented polymorphonuclear cells

Answer 14

combined systems disease (B12 deficiency)

Question 15

When would you expect Vit E deficiency to develop and what would you see?

Answer 15

early childhood

spinocerebellar degeneration, polyneuropathy, and pigmentary retinopathy.

most obvious symptom is likely to be ataxia

Question 16

Pt that has received clotting factors is at increased risk for what disease?

Answer 16

AIDS

until recently only available from pooled sample of blood products.

(stem had a question about similar pt with encephalopathic presentation –> AIDS encephalopathy)

Question 17

Obesity with hypersomnia/sleep apnea = ?

Answer 17

pickwickian syndrome-sleep attacks (almost like narcolepsy)

hypoxemia and pulm HTN

sleep attacks usually resolve with weightloss and smoking cessation.

Question 18

pt with recent head trauma wakes from sleep confused and has subsequent hemiparesis…what does this sound like?

Answer 18

seizure during sleep with postictal state and Todd paralysis

must rule out hemorrhage