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黑矇性痴呆(Tay-Sachs病)是一种神经鞘脂代谢疾病,源于氨基己糖苷醇A(HexA)缺陷,为常染色体隐性遗传病。它在Ashkenazi犹太人群体中发病率高。我国虽有个别临床报道,但均未经酶活性测定证实。本文报告2例。例1,女,1岁2月,辽宁营口市人,因半年来视力减退,逐渐瘫痪来诊。患儿为第一胎,足月顺产。父满族,母汉族,非近亲婚配,家族中无类似患者。发育营养稍差,身长73cm,体重8kg,头围46cm,心肺腹正常,
Tay-Sachs disease is a sphingolipid metabolic disease that originates in the hexa-hexa defect and is an autosomal recessive disease. It has a high prevalence in the Ashkenazi Jewish population. Although our country has some clinical reports, but were not confirmed by enzyme activity. This article reports 2 cases. Example 1, female, 1 year old In February, Yingkou City, Liaoning Province, due to vision loss in six months, gradually paralyzed. Children for the first child, full-term birth. Father Manchu, mother Han, non-relatives marriage, no similar family in patients. Developmental health slightly less, length 73cm, weight 8kg, head circumference 46cm, normal cardiopulmonary abdominal,