Ultrastructural pathology of skin biopsy and fibroblast enzyme studies in a case of GM2-gangliosidosis with deficient hexosaminidase A and thermolabile hexosaminidase B.
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.
D001369:Axons / Q000648:ultrastructure; D001706:Biopsy; D002675:Child, Preschool; D003593:Cytoplasm / Q000648:ultrastructure; D005347:Fibroblasts / Q000201:enzymology*; D006596:Hexosaminidases / Q000032:analysis* / Q000172:deficiency; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008247:Lysosomes / Q000648:ultrastructure; D008266:Macula Lutea / Q000473:pathology; D008297:Male; D012867:Skin / Q000648:ultrastructure*; D013661:Tay-Sachs Disease / Q000473:pathology*
D006596:Hexosaminidases