Williams T E, Buchhalter J R, Sussman M D
School of Medicine, Oregon Health Sciences University, Portland, USA.
Pediatr Neurol. 1996 Feb;14(2):158-61. doi: 10.1016/0887-8994(96)83273-5.
The classic features of Marinesco-Sjögren syndrome include bilateral cataracts, cerebellar ataxia, and mental deficiency with an autosomal recessive inheritance pattern. Weakness and a variety of other characteristics are present inconsistently. A limited number of neuroimaging studies have indicated that cerebellar hypoplasia is the most common finding. We report a patient with near normal intelligence, unilateral cataract, and the previously unreported magnetic resonance imaging findings of cerebellar dysplasia, arachnoid cyst, and absent septum pellucidum. A review of the literature suggests significant heterogeneity in the Marinesco-Sjögren syndrome.
马里内斯科 - 舍格伦综合征的典型特征包括双侧白内障、小脑共济失调和智力缺陷，呈常染色体隐性遗传模式。肌无力和其他多种特征表现不一。有限的神经影像学研究表明，小脑发育不全是最常见的表现。我们报告了一名智力接近正常、单侧白内障的患者，其磁共振成像表现为小脑发育异常、蛛网膜囊肿和透明隔缺如，这些表现此前未见报道。文献综述表明，马里内斯科 - 舍格伦综合征存在显著的异质性。
