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Pelizaeus-Merzbacher syndrome


slowly progressive dysmyelinating disease
  • diffuse, symmetrical demyelination
    • cerebrum
    • cerebellum
    • brainstem
    • spinal cord

  • "islands" of partially demyelinated fibers
  • CT may be normal

  • two types:
    • X-linked recessive (presents in infancy)
    • autosomal dominant (preadulthood)


Charles E. Kahn, Jr., MD  -  13 February 1995
Last updated:  1 October 2013


 

Related CHORUS documents:
leukodystrophy
Cockayne syndrome
Alexander disease
globoid cell (Krabbe) leukodystrophy
dysmyelinating disease
adrenoleukodystrophy

 

Copyright © 2013, Charles E. Kahn, Jr.