title: [Tay-Sachs disease: a case report. Interest of ultrastructural studies of cultured skin fibroblasts (author's transl)].
abstract: Ultrastructural studies of cultured skin fibroblasts derived from an individual affected with Tay-Sachs disease (GM2 gangliosidosis variant B) diagnosed by clinical observation and hexosaminidase A deficiency, revealed several lamellar lysosomal inclusions. These inclusions are not seen in cultured fibroblasts and cultured amniotic fluid cells derived from individuals heterozygotic for Tay-Sachs disease. Normal cells were cultured and observed for comparison.
mesh_terms: D002478:Cells, Cultured; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D008297:Male; D013661:Tay-Sachs Disease / Q000473:pathology*
vernacular_title: Un cas de maladie de Tay-Sachs. Intérêt de l'étude ultrastructurale des fibroblastes en culture.