脑黄斑变性症,又名黑朦性家族痴愚(Tay-sachs 氏病),为一先天性类脂质代谢障碍病。此病较为少见,是一种常染色体隐性遗传性疾病。据文献报道,多见于犹太族,国内曾有零星报告。我院儿科于1983年3月26日收治1例,现报告如下。黄××,女性,1岁3个月,住院号39513。以表情呆钝,进行性肌力减退7个月,反复惊厥20余天 Macular degeneration, also known as dark-headed family foolishness (Tay-sachs disease), is a congenital lipid disorders. The disease is relatively rare, is an autosomal recessive genetic disease. According to the literature, more common in the Jewish people, there have been sporadic domestic reports. Pediatric hospital in March 26, 1983 admitted to a case, are as follows. Huang × ×, female, 1 year old 3 months, hospital number 39513. To look dull, progressive muscle weakness for 7 months, repeated seizures more than 20 days