ULTRASTRUCTURAL PATHOLOGY OF SKIN BIOPSY AND FIBROBLAST ENZYME STUDIES IN A CASE OF GM2-GANGLIOSIDOSIS WITH DEFICIENT HEXOSAMINIDASE A AND THERMOLABILE HEXOSAMINIDASE B
- 1 May 1980
- journal article
- research article
- Published by Georg Thieme Verlag KG in Neuropediatrics
- Vol. 11 (02) , 161-175
- https://doi.org/10.1055/s-2008-1071386
Abstract
A 2 year-old non-Jewish boy had muscle hypertonia, a black cherry spot, dementia, and seizures. His skin biopsy showed membranous cytoplasmic bodies in axonal terminals and zebra body-like inclusions in Schwann cells. Biochemically, a deficiency of Hex A and two separate Hex B peaks indicated a type 1 (B variant, Tay Sachs) like subvariant of GM2-gangliosidosis.Keywords
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