Marinesco-Sjogren syndrome with atrophy of the brain stem tegmentum and dysplastic cytoarchitecture in the cerebral cortex
Marinesco-Sjogren syndrome with atrophy of the brain stem tegmentum and dysplastic cytoarchitecture in the cerebral cortex
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DOI：
10.1111/j.1440-1789.2008.00884.x
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发表时间：
2008-10-01
期刊：
影响因子：
2.3
通讯作者：
Kakita, Akiyoshi
中科院分区：
文献类型：
--
作者：
Sakai, Kenji;Tada, Mari;Kakita, Akiyoshi
Marinesco-Sjogren综合征（MSS）是一种常染色体隐性遗传的进行性多系统疾病，以白内障、智力低下和小脑共济失调为特征。最近，已经鉴定了MSS的两个致病基因SIL 1和SARA 2。另一方面，中枢神经系统在这种综合征的组织病理学特征尚未得到详细阐明。我们在这里报告的MSS进行性肌病，其中小脑和脑干被盖萎缩，视网膜变性和发育不良的细胞结构在大脑皮层的尸检病例的特点是显而易见的。患者的一个哥哥表现出非常相似的症状，这意味着一个常染色体隐性遗传方式。然而，我们在可用的基因中没有检测到突变。这个病例似乎代表了MSS的一个不寻常的例子，表现出广泛的发育异常和中枢神经系统神经元变性。
Marinesco-Sjogren syndrome (MSS) is a progressive multisystem disease with autosomal recessive inheritance characterized by cataracts, mental retardation, and cerebellar ataxia. Recently, two causative genes for MSS, SIL1 and SARA2, have been identified. On the other hand, the histopathologic features of the CNS in this syndrome have not yet been clarified in detail. We report here the features of an autopsy case of MSS with progressive myopathy, in which atrophy of the cerebellum and brain stem tegmentum, retinal degeneration, and dysplastic cytoarchitecture in the cerebral cortex were evident. An elder brother of the patient showed quite similar symptoms, implying an autosomal recessive mode of inheritance. However, we detected no mutations in the available genes. This case appears to represent an unusual example of MSS manifesting widespread developmental anomaly and neuronal degeneration in the CNS.