title: [Clinical, ultrastructural and biochemical study of a case of GM1 type 2 gangliosidosis].
abstract: Clinical, histological, ultrastructural and biochemical studies have been performed in a living 20-month-old infant with GM1-gangliosidosis type 2. Rectum, brain and liver biopsies were done. The histological and ultrastructural examination revealed the presence of cytoplasmic membranous bodies in the nervous system and a vacuolisation of the visceral parenchymatous cells, particularly histiocytes. The diagnosis was established by the finding of a generalized beta-galactosidase deficiency and an accumulation of GM1-ganglioside in brain. In leukocytes, the activity of p-nitrophenyl-beta-galactosidase was below 5%, and that of GM1-ganglioside beta-galactosidase below 1% of values obtained in controls. In cerebral tissue, GM1 ganglioside constituted 80% of total gangliosides; its concentration was 15 times that in age-matched controls. No accumulation of GM1 could be evidence in liver. Enzymatic examination of leukocytes obtained from the consanguineous parents revealed heterozygote values.
mesh_terms: D001921:Brain / Q000473:pathology / Q000648:ultrastructure; D001923:Brain Chemistry; D005733:Gangliosidoses / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology; D006651:Histocytochemistry; D006801:Humans; D007223:Infant; D008055:Lipids / Q000032:analysis; D008099:Liver / Q000473:pathology / Q000648:ultrastructure; D012007:Rectum / Q000473:pathology / Q000648:ultrastructure
chemical_list: D008055:Lipids
vernacular_title: Etude clinique, ultrastructurale et biochimique d'un cas de gangliosidose a GM1 de type 2