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,
Haberland C, Brunngraber EG. Early Infantile Neurolipidosis With Failure of MyelinationA Chemical and Histopathological Study. Arch Neurol. 1970;23(6):481–488. doi:10.1001/archneur.1970.00480300003001
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