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Nervous system

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spongy degeneration (Canavan disease)

autosomal recessive dysmyelinating disease
  • onset at 2 - 9 months

  • megalencephaly
    • (Alexander disease only other degenerative neurological disease in infants with big head!)

  • blindness +/- deafness
  • hypotonia --> spasticity

  • Dx: brain bx
  • centrum semiovale most severely affected

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


 

Related CHORUS documents:
leukodystrophy
adrenoleukodystrophy
metachromatic leukodystrophy
Alexander disease
globoid cell (Krabbe) leukodystrophy
Pelizaeus-Merzbacher syndrome

 

Copyright © 2013, Charles E. Kahn, Jr.