Arisoy A E, Ozden S, Ciliv G, Ozalp I
Department of Pediatrics, Inönü University Faculty of Medicine, Malatya, Turkey.
Turk J Pediatr. 1995 Jan-Mar;37(1):51-6.
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.
泰-萨克斯病（GM2神经节苷脂贮积症I型）是一种局限于中枢神经系统的常染色体隐性溶酶体贮积病，由己糖胺酶A缺乏所致。所报告的病例为一名12个月大的女童，因精神运动发育迟缓和惊厥入院。她是近亲结婚的后代，有两个患同样症状的兄弟姐妹死亡史。患儿有全身肌张力减退、巨头畸形、听觉过敏和视网膜樱桃红斑表现。无器官肿大。通过检测血清中己糖胺酶A活性缺乏做出泰-萨克斯病的诊断。
