| Metachromatic leukodystrophy
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Etiology
An autosomally recessively inherited
white matter dysmyelination due to absence or decrease of
of the enzyme Arylsulphatase A.
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Pathogenesis
The lack of arylsulfatase A, a lysosomal enzyme, causes
build up of cerebroside sulfatides which be produce
demyelination although the exact mechanism is not known.,
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Epidemiology
The disease is seen in infants, juveniles and adults.
It is quite rare.
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General Gross Description
The white matter of the cerebral and cerebellar
hemispheres has a chalky white to greyish appearance
which is firm in texture.
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General Microscopic Description
Microscopically there is loss of myelin and collections
of cerebroside sulfatides inside and outside of
macrophages. The sulfatides stain with PAS and metachromatically brown with acid cresyl violet.
Metachromasia means staining a different color than
expected - that is, acid cresyl violet usually stains
cells violet but in this case it stains them brown.
Proliferation of reactive astrocytes is also seen.
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Clinical Correlation
Clinically the patients behave normally up to a certain
point and then develop psychological and neurological
deficits after which they go progressively down hill
and often die of intercurrent infections.
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References
1. Graham and Lantos. Greenfield's Neuropathology 1997.
pp 689-691.
2. Cotran, Kumar and Robbins. Pathologic Basis of
Disease 5th edition. pp 1338.
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| Metachromatic leukodystrophy
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| Synopsis by: Dr ML Grunnet (TX2000D14110)[604]
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