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Neuropediatrics 1980; 11(2): 161-175
DOI: 10.1055/s-2008-1071386
© Georg Thieme Verlag KG Stuttgart · New York

ULTRASTRUCTURAL PATHOLOGY OF SKIN BIOPSY AND FIBROBLAST ENZYME STUDIES IN A CASE OF GM2-GANGLIOSIDOSIS WITH DEFICIENT HEXOSAMINIDASE A AND THERMOLABILE HEXOSAMINIDASE B

U.  Burck1 , K.  Harzer2 , H. H. Goebel3 , K. L. Elze4 , K. R. Held1 , L.  Carstens5
  • 1Dept. of Human Genetics, University of Hamburg
  • 2Institute of Brain Research, University of Tübingen
  • 3Division of Neuropathology, University of Göttingen
  • 4Dept. of Ophthalmology, Altona General Hospital, Hamburg
  • 5Children's Hospital of Altona, Hamburg
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Publication History

Publication Date:
19 March 2008 (online)

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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.

Key words

GM2-gangliosidosis - Tay-Sachs variant - membranous cytoplasmic bodies - ultrastructure - abnormal hexosaminidases