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.
Ellis WG, Schneider EL, McCulloch JR, Suzuki K, Epstein CJ. Fetal Globoid Cell Leukodystrophy (Krabbe Disease): Pathological and Biochemical Examination. Arch Neurol. 1973;29(4):253–257. doi:10.1001/archneur.1973.00490280065009
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