Tay-Sachs氏病(婴儿型家族性黑蒙性痴呆)属脑黄斑变性症(Cerebromacular degeneration)一类遗传性疾病,有进行性智力和视力障碍,临床较罕见,现报告一例如下: 男孩唐某,4个月,广西都安县人,1981年4月28日入院。患儿出生后第50天起抽搐,每天发作一至数次不等。每次抽搐1～5分钟。发作时四肢屈曲,两眼上翻,凝视,口吐少许白沫,脸色发灰,不哭不叫,二便不失禁,无发热。间歇期神态和吸乳如常。据其父母称病前两眼可追踪眼前移动 Tay-Sachs’s disease (infantile Familial Alzheimer’s dementia) is a hereditary disease of Cerebromacular degeneration. It has progressive mental and visual impairments and is rare in clinical practice. One example is reported below: Boy Tang , 4 months, Guangxi Du’an County, April 28, 1981 admission. Children from the first 50 days after convulsions, seizures one to several times a day. Each convulsion 1 to 5 minutes. Attack limb flexion, his eyes upturned, staring, vomit a little foam, his face gray, do not cry is not called, the second will be no incarceration, no fever. Intermittent period dementia and breast pump as usual. According to their parents, the two eyes before the disease can be tracked in front of the move