Adams C, Green S
Dev Med Child Neurol. 1986 Apr;28(2):236-43. doi: 10.1111/j.1469-8749.1986.tb03860.x.
Five children from two non-consanguineous Asian families with juvenile-onset hexosaminidase deficiency are presented. Two have juvenile Tay-Sachs disease with hexosaminidase A deficiency and three have juvenile Sandhoff disease with hexosaminidase A and B deficiency. The contributing factors in the spectrum of the hexosaminidase deficiency disease are outlined, and previously reported cases of late-onset Tay-Sachs and Sandhoff disease are reviewed. The heterogeneity of the effects of hexosaminidase deficiency is discussed, with the recommendation that the diagnosis be considered, in its various forms, when there is no other obvious explanation.
本文介绍了来自两个非近亲亚洲家庭的五名患有青少年型己糖胺酶缺乏症的儿童。其中两名患有青少年型泰-萨克斯病，缺乏己糖胺酶A；三名患有青少年型桑德霍夫病，缺乏己糖胺酶A和B。概述了己糖胺酶缺乏症谱系中的影响因素，并回顾了先前报道的迟发性泰-萨克斯病和桑德霍夫病病例。讨论了己糖胺酶缺乏症影响的异质性，并建议在没有其他明显解释的情况下，考虑各种形式的诊断。
