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December 1970

Early Infantile Neurolipidosis With Failure of Myelination: A Chemical and Histopathological Study

Author Affiliations

From the Department of Neuropathology (Dr. Haberland) and Research Laboratory (Dr. Brunngraber), Illinois State Psychiatric Institute, and the Illinois State Pediatric Institute (Dr. Haberland), Chicago.

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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