Ultrastructure of the conjunctiva, skin, and gingiva: a case of Sandhoff's disease in a Jewish patient.
Arch Pathol Lab Med
; 104(3): 123-9, 1980 Mar.
Article
em En
| MEDLINE
| ID: mdl-6243915
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Sandhoff
/
Pele
/
Túnica Conjuntiva
/
Gengiva
Limite:
Female
/
Humans
/
Infant
Idioma:
En
Ano de publicação:
1980
Tipo de documento:
Article