Prayson Leukodystrophies

Question 1

Metachromatic leukodystrophy

Answer 1

METACHROMATIC MATERIAL; Autosomal recessive, Lysosomal arylsulfatase A deficiency, sulfatide accumulation, Ch22. Confluent and symmetrical brownish discoloration of the white matter, cerebroside sulfate containing macs , preservation of arcuate fibers, severe axonal damage and loss, Metachromatic granular bodies in macs, neurons, and schwann cells seen with touludine blue and cresyl violet.

Question 2

Globoid cell leukodystrophy (Krabbe’s dx)

Answer 2

GLOBOID CELLS; Autosomal recessive, Ch 14. Deficiency of lysosomal galactocerebroside B-galactosidase, accumulation of psychosine (galactosylsphinogsine). Cerebral atrophy, gray discoloration of centrum ovale and corona radiata, symetrical and confluent loss of myelin, spares arcuate fibers. Globoid cell proliferation along vessels that are PAS + and weakly sudan +. Pyramidal tracts severely effected. Peripheral nerves enlarged, firm, and have a losst os large myelinated axons, segmental demyelination, and onion bulb formation.

Question 3

Adrenoleukodystrophy

Answer 3

SUDANOPHILIC MATERIAL, PERIVASCULAR LYMPHS, ADRENAL ATROPHY; The most common inherited leukodystrophy. Most X-linked, symptomatic heterozygote-middle aged onset in women. Defects in long chain fatty acid metabolism. cutaneous pigmentation, firm, gray-colored white matter (occipital, parietal, temporal lobes), symettrical atrophy, sparing of arcuate fibers. Degen of geniculate, hippo, and dentate nucleus

Question 4

Alexander’s Dx

Answer 4

ROSENTHAL FIBERS; Sporadic/Autosomal dominant, mutations in GFAP gene. Megalencephalic, white cortical ribbon, discolored loose white matter. Diffuse demyelination, arcuate fibers NOT spared.

Question 5

Canavan’s Dx

Answer 5

SPONGIFORM; Autosomal recessive, Aspartoacylase deficency causing accumulation of N-acetylaspartate, Ch17. Enlarged brain, arcute fibers NOT spared, spongy degeneration of white matter, no inflammation. Occipital lobe more involved, mental retardation, head enlargement, hypotonia then spastic paralysis. Most die in infancy.
The caravan people with the big spongy heads climb ladders to attack the the U-fibers

Question 6

Pelizaeus-Merzbacher Dx

Answer 6

TIGEROID DEMYELINATION, NO DYSMORPHIC FEATURES, SCANTY SUDANOPHILIC MATERIAL.
X-linked recessive, phospholipid protein accumulated in endoplasmic reticulum. Atrophy, sparing of acutae fibers, BRAINSTEM and CEREBELLUM severly effected. TIGEROID demyelination

Question 7

Cockayne’s Dx

Answer 7

DISCONTINUOUS MYELIN LOSS (similar to , CALCIFICATIONS, DYSMORPHIC FEATURES, SCANT SUDANOPHILIC MATERIAL. Autosomal recessive, completely shrunken white matter, vasocentric calcifications in basal ganglia and cortex, profound microcephaly, atrophic optic nerves, fibrosed meninges, premature aging

Question 8

Aicardi-Goutieres Leukoencephalopathy

Answer 8

AR, mutations in TREX1 leads to overproduction of a-interferon. Calcificatins in white matter and basal ganglia, microcephaly, flaky myelin loss
Aicardi AGgregates calcifications in small spaces with his TREX want