Congenital muscle fiber-type disproportion in Krabbe's leukodystrophy.
Progressive spasticity, blindness, loss of skills, and neuropathy developed in a 4.5-month-old boy. When examined at 13 months, galactocerebrosidase and galactosylceramide-beta-galactosidase activities were deficient in leukocytes. Intramuscular nerves and a sural nerve biopsy specimen showed loss of nerve fibers, interstitial fibrosis, and axonal degeneration, rather than the segmental demyelination that predominates in most cases. A muscle biopsy specimen showed congenital muscle fiber-type disproportion (CMFTD). This case confirms a previous report of CMFTD in Krabbe's disease and supports a neurogenic mechanism as the basis for CMFTD.
D002675:Child, Preschool; D005698:Galactosylceramidase / Q000378:metabolism; D006651:Histocytochemistry; D006801:Humans; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000201:enzymology / Q000473:pathology*; D008297:Male; D009132:Muscles / Q000473:pathology / Q000648:ultrastructure*; D013497:Sural Nerve / Q000648:ultrastructure
D005698:Galactosylceramidase