Chapter 28: Demyelinating/Metabolic disorders

Question 1

This disease is characterized by periods of exacerbated sensory and motor deficits followed by remission of symptoms and the formation of demyelinated plaques in the brain and spinal cord

Answer 1

Multiple sclerosis

Question 2

Histopathological finding in the demyelinated plaques of end stage Multiple sclerosis

Answer 2

astrogliosis

Question 3

A 25 year old woman experienced blurred vision in one eye a yr/ago which disappeared the following week. 1 month ago, she experienced weakness of her right arm and vertigo. A recent lumbar puncture showed increased lymphocytes and oligoclonal IgG bands.This patient’s symptoms and CSF findings are typically associated with which HLA serotype?

Answer 3

HLA-DR2

Question 4

This neurologic disease is characterized by vitamin B12 deficiency, burning or tingling sensation of the soles of the feet, and gliosis and atrophy of the spinal cord over time

Answer 4

Subacute combined degeneration

Question 5

<p>

| Subacute combined degeneration typically involves degeneration of which part of the spinal cord?</p>

Answer 5

<p>

| posterior-lateral columns (dorsal columns, spinocerebellar tracts and corticospinal tract)</p>

Question 6

Wernicke encephalopathy is caused by a deficiency in

Answer 6

thiamine (vitamin B1)

Question 7

A chronic alcoholic presents with ataxia, altered consciousness, and ophthalmoplegia. The patient expires and pathological findings include petechiae and atrophy of the mammillary bodies. A pathological finding of the cerebellum would be

Answer 7

atrophy of the superior portion of the vermis

Question 8

Disease affecting infants and children which is caused by hexosaminidase A defect

Answer 8

Tay-Sachs disease

Question 9

With Tay-Sachs disease, the cells affected are 1___ and their lysosomes are filled with 2___. Also, retinal involvement would present with 3____ in the macula

Answer 9

1. neurons
2. lipids
3. cherry-red spot

Question 10

This disease is characterized by focal demyelination of the pons, “locked in” syndrome, and depressed consciousness

Answer 10

Central Pontine myelinolysis

Question 11

Central Pontine myelinolysis is caused by ___ in alcoholics and the malnourished

Answer 11

rapid IV correction of hyponatremia

Question 12

Cerebroside or galactosyl sulfatide accumulation in oligodendrocytes and Schwann cells is due to a defect in what enzyme and is characteristic of which disease?

Answer 12

arylsulfatase defect
Metachromatic leukodystrophy (MLD)

Question 13

A 6 year old girl which presents with motor and sensory dysfunction, an inborn error in her cells peroxisomes, and accumulation of very long chain fatty acids in her gangliosides and myelin has which disease?

Answer 13

Adrenoleukodystrophy

Question 14

With Adrenoleukodystrophy, peroxisome defect prevents the addition of _____ to free fatty acids

Answer 14

coenzyme A

Question 15

This disease typically affects children and is characterized by accumulation of galactocerebroside in macrophages or globoid cells and sensory, motor, and cognitive dysfunction

Answer 15

Krabbe disease

Question 16

Krabbe disease involves a defect in which enzyme?

Answer 16

galactocebroside B-galactosidase aka galactocerebrosidase

Question 17

Disease characterized by Kayser-Fleischer ring, copper deposition in the liver and brain, and lack of coordination and tremor

Answer 17

Wilson disease

Question 18

Kayser-Fleischer rings are formed by 1.___ deposition in 2. ____ of the iris

Answer 18

1. copper

2. Descemet membrane