Ultrastructure of the conjunctiva, skin, and gingiva. A case of Sandhoff's disease in a Jewish patient

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 G(M2) 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.