Tay-Sachs disease: a case report.
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.
Arisoy
A E
AE
Department of Pediatrics, Inönü University Faculty of Medicine, Malatya, Turkey.
Ozden
S
S
Ciliv
G
G
Ozalp
I
I
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*
D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases