Yvonneau M, Dupouy F
Encephale. 1977;3(2):165-72.
The case of a severely mentally-retarded man who congenitally presents a cerebellar syndrome and a serious myopia, is discussed: his unilateral cataract showed at 25, and two presenile cataracts among his relatives. Besides, this case involve an epilepsy, an insufficient somato-genital growth and an hyperostosis frontalis interna. A dyslipoïdosis was called up by d'ANGELO and al. (1967) in the MARINESCO-SJOGREN syndrome; an excess of lipids seems actual in the CSF of our case. So the rare MARINESCO-SJOGREN syndrome's diagnosis criteria may remain no restrictive.
他25岁时出现单侧白内障，其亲属中有两人患有早老性白内障。此外，该病例还涉及癫痫、躯体-生殖系统发育不足和额骨内板增生。d'ANGELO等人（1967年）在马林斯科-舍格伦综合征中发现了脂质代谢异常；在我们的病例中，脑脊液中似乎确实存在脂质过多的情况。因此，罕见的马林斯科-舍格伦综合征的诊断标准可能并不严格。
