[Marinesco-Sjögren syndrome].
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.
D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000151:congenital*; D002648:Child; D002675:Child, Preschool; D006801:Humans; D008607:Intellectual Disability; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis; D008297:Male; D009216:Myopia / Q000151:congenital; D012640:Seizures / Q000151:congenital; D013577:Syndrome
A propos du syndrome de Marinesco-Sjögren.