• Turkish J Pediatr · Jan 1995

    Case Reports

    Tay-Sachs disease: a case report.

    • A E Arisoy, S Ozden, G Ciliv, and I Ozalp.
    • Department of Pediatrics, Inönü University Faculty of Medicine, Malatya, Turkey.
    • Turkish J Pediatr. 1995 Jan 1;37(1):51-6.

    AbstractTay-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.

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