Arisoy A.E.Ozden S.Ciliv G.Ozalp I.2024-08-042024-08-0419950041-4301https://hdl.handle.net/11616/90478Tay-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.eninfo:eu-repo/semantics/closedAccessbeta n acetylhexosaminidasearticlebloodcase reportfemalehumaninfantonset agepathologyretina macula degenerationTay Sachs diseaseAge of Onsetbeta-N-AcetylhexosaminidaseFemaleHumansInfantMacular DegenerationTay-Sachs DiseaseArticle371515677326082-s2.0-0029206431Q3