3.21.14 SDL10 Toxic Metabolic Diseases

Question 1

Name three neuronal storage diseases

Answer 1

Neuronal ceroid lipofuscinosis
Tay-Sachs
Niemann-Pick

Question 2

What two features are common of leukodystrophies? (why wouldn’t you take a superficial biopsy?)

Answer 2

Dysmyelinating diseases (leukodystrophies) show:
1. Diffuse white matter damage
2. Sparing of the U-fibers, between gyri
(deep white matter is best for diagnosis, otherwise you might see the myelination of the U-fibers and misdiagnose)

Question 3

Krabbe disease falls into what class of disease?

Answer 3

Dysmyelinating disease (leukodystrophy)

Question 4

What deficiency exists in metachromatic leukodystrophy?

Answer 4

Arylsulfatase-A

Question 5

What deficiency exists in Krabbe disease?

Answer 5

Galactocerebroside-B-galactosidase

Question 6

What causes adrenoleukodysrophy?

Answer 6

Inability to catabolize very long chain fatty acids

Question 7

Occipital white matter is typically more involved than frontal white matter in what dysmyelinating disorder?

Answer 7

Adrenoleukodystrophy

Question 8

Foamy histiocytes, absence of myelin, and perivascular lymphocytic cuffs are indicative of what disease?

Answer 8

Adrenoleukodystrophy

Question 9

What mitochondrial diseases should you be familiar with? (Just go ahead and look at these, there’s now way you’ve memorized them)

Answer 9

Leigh syndrome
Kearns Sayre syndrome
NARP (neuropathy, ataxia, ret. pigmentosa)
MERRF (myoclonic epilepsy, ragged red fibers)
MELAS (mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes)

Question 10

Leigh syndrome and Kearns-Sayre syndrome are associated with what class of disease?

Answer 10

Mitochondrial diseases

Question 11

Wernicke-Korsakoff is a ____ deficiency. Major symptoms? It typically affects what structures?

Answer 11

• Thiamine (B1)
• Ophthalmoplegia, psychosis, confabulation, memory issues
• Mammillary bodies and superior cerebellar vermis

Question 12

Damage to mammillary bodies is associated with what disease?

Answer 12

Wernicke-Korsakoff (Thiamine deficiency)

Question 13

Megaloblastic anemia is associated with what deficiency?

Answer 13

Cobalamin (B12)

Question 14

Cobalamin deficiency is associated with damage to what areas?

Answer 14

Dorsal and lateral columns of the spinal cord

Question 15

Alzheimer type II glia is associated with what?

Answer 15

NOT Alzheimer’s disease!

Chronic liver failure (specifically, increased blood ammonium levels)

Question 16

Hyperglycemia mimics what symptoms? What areas are susceptible?

Answer 16

Hypoxic-ischemic damage
---
Sommer's sector (CA1 of hippocampus)
Purkinje cells
Cortical layers 3,5,6

Question 17

Why should you be careful in correcting fluid-electrolyte imbalances?

Answer 17

Central pontine myelinolysis (and consequent locked-in syndrome) occurs from rapid correction of hyponatremia

Question 18

Necrosis of bilateral globus pallidus is associated with _____

Answer 18

Carbon monoxide poisoning

Question 19

Necrosis of bilateral putamen is associated with _____

Answer 19

Methanol poisoning

Question 20

Arsenic poisoning leads to _____

Answer 20

peripheral neuropathy

Question 21

Lead poisoning leads to _____

Answer 21

IQ and attention deficit in kids

Question 22

What drugs can cause peripheral neuropathies and necrotizing myelitis?

Answer 22

Isoniazid
Vincristine
“many others” (that you don’t need to know)

Question 23

Extensive white matter necrosis from treatment of glial tumors results from use of?

Answer 23

Methotrexate and radiation therapy