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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 (!)


Charles E. Kahn, Jr., MD  -  2 February 1995
Last updated:  1 October 2013


 

Related CHORUS documents:
dysmyelinating disease
leukodystrophy
adrenoleukodystrophy
Cockayne syndrome
demyelinating disease
spongy degeneration (Canavan disease)

 

Copyright © 2013, Charles E. Kahn, Jr.