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本综合征又名Marinsco—Sjogren氏综合征,属遗传性脊髓小脑变性。其特点为白内障,小脑症状,智能障碍,发育障碍,骨胳异常以及运动障碍等症状,进行缓慢,为一种先天性代谢异常疾病。由Marinesco氏(1931)和Sjogren氏(1950)报导,系常染色体隐性遗传,近亲结婚易罹此病,两性无差异,症状在学走路时出现。此综合征比较少见,Alter氏于1962年收集到约50例,作者认为实际不止此数,主要是是对此综合征认识不够有关。我们于1976年观察到一家有三例、并最近又作了随访。鉴于国内尚未见报导,兹介绍如下,以供参考。
The syndrome, also known as Marinsco-Sjogren’s syndrome, is a hereditary spinocerebellar degeneration. It is characterized by cataracts, cerebellar symptoms, mental retardation, developmental disorders, skeletal abnormalities and dyskinesia and other symptoms, slow, as a congenital metabolic disorders. Marinesco’s (1931) and Sjogren’s (1950) reported that autistic autosomal recessive, close relatives were predisposed to the disease, with no difference between the two sexes, and symptoms when they walked. The syndrome is relatively rare, Alter’s collection of about 50 cases in 1962, the author believes that more than the actual number, mainly due to lack of awareness of the syndrome. We observed one in three in 1976 and recently followed up. In view of the fact that no reports have been made in our country, I hereby give you a brief introduction.