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Neuro > Toxic & Metabolic CNS diseases > Flashcards

Toxic & Metabolic CNS diseases Flashcards

1
Q

How are most autosomal LSDs inherited?

A

autosomal recessive

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2
Q

Which LSDs are X linked?

A 
fabry disease
hunter syndrome (MPS II)
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3
Q

What is the definition of a gangliosidoses?

A

type of neuronal storage disease

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4
Q

What is a lysosomal storage disease?

A

accumulation of ‘inert’ substrates/metabolites

cells swell

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5
Q

What population is tay sachs usually seen in?

A

ashkenazi jews

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6
Q

What chromosome is the gene for tay sachs on?

A

15

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7
Q

What are the signs and symptoms of tay sachs?

A

psychomotor retardation
blindness
motor incoordination, eventual flaccidity, mental deterioration, eventual decerebrate state
cherry red spot

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8
Q

What is stored excessively in tay sachs?

A

Hex A: aB

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9
Q

What is stored excessively in sandhoff disease?

A

Hex B: BB

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10
Q

What happens to a tay sachs brain if the patient survives longer than 2 years?

A

gets big

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11
Q

What microscopic findings are in tay sachs disease?

A

enlarged ballooned neurons filled with PAS positive material/whorled, membranous cytoplasmic bodies

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12
Q

What is deficient in Krabbe’s disease? What does this result in?

A

galactocerebroside B galactosidase

accum of toxic compound (psychosine) that injures oligodendrocytes

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13
Q

What is another name for Krabbe’s disease?

A

globoid cell leukodystrophy

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14
Q

What are clinical signs and symptoms of Krabbe’s?

A 
irritability
tonic spasms
opisthotonic posture
myotonic jerking
optic atrophy, blindness
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15
Q

What does Krabbe’s look like on gross exam?

A

atrophic white matter with preservation of U fibers

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16
Q

What is seen histologically with krabbe’s?

A

globoid cells
large multinucleated cells
globoid cells contain crystalloid straight or tubular profiles

17
Q

What is deficient in metachromatic leukodystrophy? What does this result in?

A 
aryl sulfatase A
metachromic lipids (sulfatides) accumulate in brain, peripheral nerves and kidney
18
Q

How is metachromatic leukodystrophy diagnosed?

A

enzme deficiency in urine, WBCs or fibroblasts

19
Q

What does metachromatic leukodystrophy look like on gross exam?

A

white matter very firm, gliosis, preservation of U fibers

20
Q

What is seen on histology for metachromatic leukodystrophy?

A

metachromasia of white matter deposits (acidified cresyl violet stain)

21
Q

What is the problem in adrenoleukodystrohpy?

A

decreased activity of very long chain fatty acyl CoA synthetase
(excess of very long chain fatty acid esters in plasma, cultured fibroblasts, CNS, PNS and adrenals)

22
Q

What are the signs/symptoms of the adrenoleukodystrophy classic form?

A

dementia/psychosis, visual/hearing loss, seizures, adrenall insufficiency follows neuro sx

23
Q

What does adrenoleukodystrophy look like on gross exam?

A

gray discoloration of white matter, marked firmness
u fiber preservation
severe demyelination

24
Q

What does adrenoleukodystrophy look like histologically?

A 
perivascular inflammation (more specific)
PAS positive macrophages
25
Q

What is the important histologic finding related to hepatic encephalopathy?

A

alzheimer type II astrocytes

26
Q

What systems are most commonly symptomatic in mitochonidrail disease?

A

brain & muscle

27
Q

What is the mutation in leigh’s disease (subacute necrotizing encephalopathy)?

A

mutation in nuclear DNA and mitochondrial DNA leading t oenzyme deficiency in pathyway converting pyruvate to ATP
decreased activity of cytochrome C oxidase

28
Q

What are the signs and symptoms of leigh’s disease?

A

arrest of development, hypotonia, seizures, extraocular palsies

29
Q

What is seen on gross exam of leigh’s patients?

A

multifocal infarcts that don’t correspond to vascular distribution

30
Q

What are signs/sx of fetal alcohol syndrome?

A 
growth retardation
facial deformities (short palpebral fissue, epicanthal folds, thin upper lip, growth retardation of jaw)
cardiac defects
delayed develpment and mental deficiency
31
Q

What is seen histologically with methotrexate toxicity?

A

coagulative necrosis with mineralization

32
Q

What would lead you to a dx of sandhoff’s over tay sachs?

A

more severe presentation

PNS and CNS findings

Neuro (14 decks)

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