CNS Metabolic Diseases

Question 1

This is the typical pattern of inheritance for neuronal storage diseases

Answer 1

autosomal recessive

Question 2

What are the two types of neuronal storage diseases?

Answer 2

neuronal ceroid lipofuscinosis

Tay-Sachs

Question 3

What is the particle that accumulates in cells associated with cellular aging?

Answer 3

lipofuscin

Question 4

Broadly, what is the pathology of neuronal ceroid lipofuscinosis?

Answer 4

lipofuscin accumulates due to an unknown metabolic process, is stored in lysosomes and ultimately damages cells

Question 5

Pathology of Tay-Sachs disease

Answer 5

Hex-A (hexosamidase-A) deficiency causing buildup of gangliosides

Question 6

Typical presentation of Tay-Sachs disease

Answer 6

baby that was healthy at birth not meeting developmental milestones

Question 7

What is almost diagnostic of Tay-Sachs?

Answer 7

“cherry red spot” on macula

Question 8

What is the pathology of the cherry red spot in Tay-Sachs?

Answer 8

surrounding neuronal retina tissue appears more gray than normal due to ganglioside buildup, making the macula appear cherry red

Question 9

Broadly, what are leukodystrophies?

Answer 9

diseases affecting white matter (oligodendrocytes)

Question 10

How can leukodystrophies be clinically differentiated from lysosomal storage diseases?

Answer 10

leukodystrophies affect motor function and not cognitive function

Question 11

Pathology of Krabbe disease

Answer 11

buildup of galactosylsphigosine and subsequent buildup of globoid cells (fat macrophages)

Question 12

What two conditions are associated with thiamine deficiency?

Answer 12

Wernicke encephalopathy

Karsakoff syndrome

Question 13

What is the macro-pathophys of Wernicke/Karsakoff?

Answer 13

hemorrhage and damage of mammillary bodies

Question 14

What is confantabulation and where it is seen?

Answer 14

false memories

seen in Karsakoff syndrome

Question 15

Opthalamoplegia

Answer 15

paralysis (often temporary) of extraoccular muscles seen in Wernicke encephalopathy

Question 16

Mild disease caused by B12 deficiency

Answer 16

pernicious anemia

Question 17

Severe disease caused by B12 deficiency

Answer 17

subacute combined degeneration of spinal cord

Question 18

Describe subacute combined degeneration of spinal cord

Answer 18

lower extremity weakness, ataxia, and weakness due to B12 deficiency. may cause paraplegia but is reversible until that point.

Question 19

This toxin turns the body and brain and abnormal pink color

Answer 19

CO

Question 20

What toxin preferentially affects the retina?

Answer 20

methanol

Question 21

What type of ataxia does ethanol cause?

Answer 21

truncal–muscles closest to trunk are most affected because alcohol affects the mid-cerebellar region preferentially

Question 22

Bergmann gliosis is seen in what condition?

Answer 22

chronic alcoholism