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December 1970

Early Infantile Neurolipidosis With Failure of MyelinationA Chemical and Histopathological Study

Arch Neurol. 1970;23(6):481-488. doi:10.1001/archneur.1970.00480300003001

VARIABLE degree of demyelination has been long recognized in Tay-Sachs disease. Severe and extensive white matter involvement, however, comparable to that in leukodystrophy is very rare, and chemical studies are scarce and fragmentary.1-3 It seemed worth reporting, therefore, the histopathological studies and chemical investigation in a 3-year, 11-month-old Jewish girl with amaurotic idiocy presenting at 6 weeks of age. Pathologically, the neuronal lipidosis was associated with virtually total absence of stainable myelin in the cerebral and cerebellar hemispheres, and there was a significant arrest in the myelination of brain stem fibersystems. Biochemical studies on the cerebral white matter revealed a moderate increase in gangliosides, a considerable decrease in cerebrosides and glycosaminoglycans (acid mucopolysaccharides), and there was a derangement in glycoprotein structure.

Report of a Case  A 21/2 girl was admitted to the Illinois State Pediatric Institute on May 14, 1968. She was the second child of unrelated,

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