Leukodystrophies Flashcards Preview

Inborn Errors Of Metabolism > Leukodystrophies > Flashcards

Flashcards in Leukodystrophies Deck (5)
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Adrenoleukodystrophy

X-linked, ABCD1 gene
Can't transport VLCFA into peroxisome
accumulate in myelin, adrenal glands
Present 5-8yo
spasticity, cognitive impairment, seizures
Changes in occipital lobe first, progress anterior
Treatment: Lorenzo's Oil, BMT

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Types of Leukodystrophies

Degenerative, mostly affect white matter
Loss of milestones, cognitive decline, spasticity
Most common: Adrenoleukodystrophy
Lysosomal Storage Disorders:
MLD (metachromatic leukokdystrophy)
GCL (globoid cell leukodystrophy)- aka Krabbe Disease
Causes of macrocephaly: Canavan Disease, Alexander Disease

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Canavan Disease

spongy degeneration of cerebral white matter
autosomal recessive
common in Ashkenazi Jews
causes macrocephaly
diagnosed by elevated N-acetylaspartic acid

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Alexander Disease

autosomal dominant (usually de novo mutations)
GFAP mutation
causes macrocephaly
changes mostly in frontal region on MRI

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Pelizaeus-Merzbacher Disease

X-linked
PLP gene deletion/duplication
d/o myelin formation
p/w nystagmus, spasticity