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Neuro Block 1-RG > CNS Metabolic Diseases > Flashcards

Flashcards in CNS Metabolic Diseases Deck (22):
1

This is the typical pattern of inheritance for neuronal storage diseases

autosomal recessive

2

What are the two types of neuronal storage diseases?

neuronal ceroid lipofuscinosis
Tay-Sachs

3

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

lipofuscin

4

Broadly, what is the pathology of neuronal ceroid lipofuscinosis?

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

5

Pathology of Tay-Sachs disease

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

6

Typical presentation of Tay-Sachs disease

baby that was healthy at birth not meeting developmental milestones

7

What is almost diagnostic of Tay-Sachs?

"cherry red spot" on macula

8

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

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

9

Broadly, what are leukodystrophies?

diseases affecting white matter (oligodendrocytes)

10

How can leukodystrophies be clinically differentiated from lysosomal storage diseases?

leukodystrophies affect motor function and not cognitive function

11

Pathology of Krabbe disease

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

12

What two conditions are associated with thiamine deficiency?

Wernicke encephalopathy
Karsakoff syndrome

13

What is the macro-pathophys of Wernicke/Karsakoff?

hemorrhage and damage of mammillary bodies

14

What is confantabulation and where it is seen?

false memories
seen in Karsakoff syndrome

15

Opthalamoplegia

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

16

Mild disease caused by B12 deficiency

pernicious anemia

17

Severe disease caused by B12 deficiency

subacute combined degeneration of spinal cord

18

Describe subacute combined degeneration of spinal cord

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

19

This toxin turns the body and brain and abnormal pink color

CO

20

What toxin preferentially affects the retina?

methanol

21

What type of ataxia does ethanol cause?

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

22

Bergmann gliosis is seen in what condition?

chronic alcoholism