[Tay-Sachs disease: a case report. Interest of ultrastructural studies of cultured skin fibroblasts (author's transl)].

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.