title: Ultrastructure of the conjunctiva, skin, and gingiva: a case of Sandhoff's disease in a Jewish patient.
abstract: Pleomorphic membranous cytoplasmic bodies that indicated glycolipid storage were found in the conjunctiva, skin, and gingiva of a Jewish patient with Sandhoff's disease. The clinical symptoms were typical of GM2 gangliosidosis. Both hexosaminidase A and hexosaminidase B activities were deficient in the leukocytes and serum. Glycosaminoglycan levels in cultured fibroblasts were elevated. Membranous cytoplasmic bodies were observed in high concentrations in a large proportion of the vascular endothelial cells, pericytes, and Schwann cells and to a somewhat lesser extent in the fibrocytes of all tissues studied. Ultrastructural analysis of the conjunctiva, skin, and gingiva as an aid for the diagnosis of Sandhoff's disease is suggested.
mesh_terms: D002196:Capillaries / Q000648:ultrastructure; D003228:Conjunctiva / Q000648:ultrastructure*; D004848:Epithelium / Q000648:ultrastructure; D005260:Female; D005881:Gingiva / Q000648:ultrastructure*; D006025:Glycosaminoglycans / Q000032:analysis; D006596:Hexosaminidases / Q000097:blood; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007223:Infant; D007585:Jews; D007962:Leukocytes / Q000201:enzymology; D012497:Sandhoff Disease / Q000097:blood / Q000235:genetics / Q000473:pathology*; D012867:Skin / Q000648:ultrastructure*
chemical_list: D006025:Glycosaminoglycans; D006596:Hexosaminidases