metachromatic leukodystrophy

dysmyelinating disease

autosomal recessive
aryl sulfatase A -- absent from urine and serum
most present by 2 yrs, die at 3-4 yrs
may arise at any age
CT: decreased density of white matter, primarily in centrum semiovale
+/- focal GB defects (!)

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© 2002, C.E. Kahn, Jr.
2002-04-18