title: Tay-Sachs disease: a case report.
abstract: Tay-Sachs disease (GM2 gangliosidosis I) is an autosomal recessive lysosomal-storage disorder confined to the central nervous system, resulting from deficiency of hexosaminidase A. The case presented is of a twelve-month-old girl brought to the hospital because of mental-motor deterioration and convulsions. She was the child of first cousins and had a history of the deaths of two siblings with the same manifestations. Generalized hypotonia, macrocephaly, hyperacusis and a retinal cherry red spot appearance were present. There was no organomegaly. The diagnosis of Tay-Sachs disease was made by means of absence of serum hexosaminidase A activity.
authors.affiliation: Department of Pediatrics, Inönü University Faculty of Medicine, Malatya, Turkey.
authors.forename: A E
authors.initials: AE
authors.lastname: Arisoy
authors.forename: S
authors.initials: S
authors.lastname: Ozden
authors.forename: G
authors.initials: G
authors.lastname: Ciliv
authors.forename: I
authors.initials: I
authors.lastname: Ozalp
mesh_terms: D017668:Age of Onset; D005260:Female; D054818:Hexosaminidase A; D006801:Humans; D007223:Infant; D008268:Macular Degeneration / Q000209:etiology / Q000473:pathology; D013661:Tay-Sachs Disease / Q000097:blood* / Q000150:complications / Q000175:diagnosis; D001619:beta-N-Acetylhexosaminidases / Q000097:blood*
chemical_list: D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases