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Histo & Neuro Part 2 > CC4: Leukodystrohpies > Flashcards

CC4: Leukodystrohpies Flashcards

1
Q

inherited diseases that affect myelin development and maintenance

A

leukodystrophy

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2
Q

Classical X – linked peroxisomal disorder

A

Adrenoleukodystrophy

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3
Q

AdrenoLeukoDystrphy Genetic defect:

A

ABCD1 gene localizes to Xq28

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4
Q

Addison’s-like disease can provoke

A

tan skin in ALD

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5
Q

Rapidly progressive, inflammatory cerebral form, characterized by visual and intellectual impairment, seizures, spasticity, and a rapid progression to death

A

ALD

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6
Q

ALD mri

A

occipito parietal

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7
Q

ALD treatment

A

bone marrow trasnsplant

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8
Q

Abnormally high levels of plasma VLCFAs

A

ALD

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9
Q

Alexander disease staining:

A

GFAP

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10
Q

Alexander symptoms

A

macrocephaly, 1st yr, seizures, rosenthal fibers, frontal predominant

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11
Q

alexander mri

A

frontal dominance

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12
Q

canavans disease is related to what gene

A

x-recessive

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13
Q

canavans clinical presentation

A

megacephalia, spongy degeneration of white matter, increased NAA

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14
Q

mri diffuse WM degeneration involving
u-fibers

A

canavan

high NAA

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15
Q

floppy baby, demyelinating peripheral neuropath, periventrricular lesion, no eye contact

A

metachromic

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16
Q

metachromic symptoms

A

progressive ataxia, cognitive decline, seizures, optic atrophy

17
Q

A lysosomal storage disease: accumulation of cerebroside sulfate

A

metachromic

18
Q

metachromic ld has what deficiency

A

Arylsulfatase-A deficiency

19
Q

what organs is involved in MLD

A

Galbladder

20
Q

abdnormal eye movements, poor head control and truncal ataxia

A

pelizaeus-merzbacher disease

21
Q

PELIZAEUS- MERZBACHER DISEASE mri

A

diffuse T2 hyperintense white matter lesions sparing the subcortical u- fibers

22
Q

PMD is involved with what protein

A

Proteolipid protein (PLP-1)

23
Q

Pathology: widespread lack of myelin due to impaired formation of myelin

A

pelizaeus-merzbacher disease

24
Q

stiff posture, jerky movements, hyperreflexia, started myoclonus

A

krabbes

25
Q

krabbes mri

A

T2 hyperintense lesions on parietal lobes

26
Q

GLOBOID CELL related

A

krabbes

27
Q

krabbes treatment

A

bone marrow transplant

28
Q

x-l revessive

A

ald and p-m

29
Q

a-d inheritance

A

alexander

30
Q

a-r

A

canavan, metachromic, krabbes

31
Q

rosenthal fibers

A

alexander

32
Q

inflammatory changes

A

ald

33
Q

spongiform degeneration

A

canavan

34
Q

Metachromatic granules

A

metachromic

35
Q

Periventricular WM

A

metachromic

Histo & Neuro Part 2 (13 decks)

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