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October 1973

Fetal Globoid Cell Leukodystrophy (Krabbe Disease): Pathological and Biochemical Examination

Author Affiliations

Davis, Calif; San Francisco; Bronx, NY; San Francisco
From the Department of Pathology, University of California, Davis (Dr. Ellis); the Neuropathology Laboratory, Langley Porter Neuropsychiatric Institute (California Department of Mental Hygiene), and the Department of Psychiatry, University of California, San Francisco (Dr. Ellis and Mr. McCulloch); Department of Pediatrics, University of California, San Francisco (Drs. Schneider and Epstein), and Department of Neurology and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY (Dr. Suzuki).

Arch Neurol. 1973;29(4):253-257. doi:10.1001/archneur.1973.00490280065009

The prenatal diagnosis of globoid cell leukodystrophy was confirmed in a 22-gestational-week fetus by the presence of characteristic PAS-positive epithelioidgloboid cells (EGC) in spinal cord white matter and by the virtual absence of galactocerebroside β-galactosidase activity in liver and brain. Localization of EGC to areas undergoing active myelination suggests that either myelin or its abnormal degradative products induce this cellular response. Ultrastructural changes in the EGC cytoplasm included phagocytosed myelin, myelin figures, and the absence of membranes enclosing the 100 Angstrom filamentous and 250 A tubular inclusions. Lipid content of cerebral tissue was normal.

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