Marinesco-Sjogren氏综合征,又名遗传性共济失调-白内障-侏儒-智力缺陷综合征,属遗传性脊髓小脑变性。本综合征特点为白内障,小脑症状,智能障碍,发育障碍,骨骼异常以及运动障碍等症状,缓慢进行,为一种先天性代谢异常疾病。由Marinesco氏(1931)和Sjogren氏(1950)报道,系常染色体隐性遗传。症状多在学走路时出现。我们于1976年观察到一家有2例,兹介绍于下。 Marinesco-Sjogren’s syndrome, also known as hereditary ataxia - cataract - dwarf - mental retardation syndrome, is a hereditary spinocerebellar degeneration. The syndrome is characterized by cataracts, cerebellar symptoms, mental retardation, developmental disorders, skeletal disorders and other symptoms of dyskinesia, slowly, as a congenital metabolic disorders. It is reported by Marinesco (1931) and Sjogren’s (1950) that autosomal recessive inheritance. Symptoms often appear while walking. We observed one in two in 1976 and are introduced below.