title: [Tay-Sachs disease: a case report].
abstract: After an infection of the respiratory tract at the age of one a male infant showed progressive mental and physical retardation. Outstanding signs (e.g. baby doll face, startle reaction and frog position) as well as results of special investigations (cherry red spots of the maculae, short tubular bones) were suspicious for the presence of a lipidstorage disease, that could be identified as Tay-Sachs disease because of absent hexosaminidase A-activity in the patient's serum. Inspite the very low incidence of Tay-Sachs disease in our population, compared with a frequency of 1: 1200 in Ashkenzi Jews, the importance of establishing a diagnosis, based on typical clinical features and biochemical results, has to be emphasized. Genetic consultation is the only point of influence in positive family history, for attempts of causal therapy are not successful at present.
authors.affiliation: Bereich angeborene Stoffwechselstörungen, Universitäts-Kinderklinik, Wien.
authors.forename: S
authors.initials: S
authors.lastname: Koch
authors.forename: K
authors.initials: K
authors.lastname: Widhalm
mesh_terms: D001933:Brain Stem / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005808:Genes, Recessive / Q000235:genetics; D005911:Gliosis / Q000473:pathology; D054818:Hexosaminidase A; D006801:Humans; D007223:Infant; D050356:Lipid Metabolism; D008297:Male; D009457:Neuroglia / Q000473:pathology; D009474:Neurons / Q000473:pathology; D013661:Tay-Sachs Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D001619:beta-N-Acetylhexosaminidases / Q000172:deficiency
chemical_list: D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases
vernacular_title: Morbus Tay-Sachs: Eine Kasuistik.