脑黄斑变性症又名黑矇性家族痴呆症(Tay—Sachs氏病)。本病为一先天性类脂代谢障碍病,在中枢神经系统有类脂质蓄积,是一种常染色体隐性遗传性疾病。一般在出生后4～8个月发病,临床表现以进行性智力、视力和运动障碍为其特点。多见于犹太族,国内曾报告六例。我院儿科见到一例,特报告于下。张××、女、8个月。住院号72195。因表情呆钝3～4个月入院。患儿母亲叙述,3～4个月前发现患儿表情呆钝、淡漠,无眼神,不能注视眼前的 Macular degeneration is also known as dementia (Tay-Sachs disease). The disease is a congenital lipid metabolism disorders, lipid accumulation in the central nervous system, is an autosomal recessive genetic disease. Generally occurs in 4 to 8 months after birth, the clinical manifestations of progressive intelligence, visual acuity and dyskinesia as its characteristics. More common in the Jewish race, there have been six cases reported in China. A case of pediatrics in our hospital, especially in the next report. Zhang × ×, female, 8 months. Hospital number 72195. Due to facial expressions dull 3 to 4 months admission. Child mother narration, 3 to 4 months ago found that children with dull expression, indifference, no eyes, can not gaze in front of