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Congenital Muscle Fiber-Type Disproportion in Krabbe's Leukodystrophy
Fereydoun Dehkharghani, MD;
Harvey B. Sarnat, MD;
Marge A. Brewster, PhD;
Sanford I. Roth, MD
Arch Neurol. 1981;38(9):585-587.
Abstract
• Progressive spasticity, blindness, loss of skills, and neuropathy developed in a 4.5-month-old boy. When examined at 13 months, galactocerebrosidase and galactosylceramide-β-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.
Author Affiliations
From the Departments of Neurology (Drs Dehkharghani and Sarnat), Pediatrics (Drs Dehkharghani, Sarnat, and Brewster), and Pathology (Drs Sarnat, Roth, and Brewster), University of Arkansas for Medical Sciences, Little Rock. Dr Sarnat is now with the University of Calgary, Alberta, Canada.
Footnotes
Accepted for publication Dec 14, 1980.
Reprint requests to Alberta Children's Hospital, 1820 Richmond Rd, Calgary, Alberta, T2T 5C7 Canada (Dr Sarnat).
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