A SYNDROME WITH JUVENILE CATARACT, CEREBELLAR ATROPHY, MENTAL-RETARDATION AND MYOPATHY
A SYNDROME WITH JUVENILE CATARACT, CEREBELLAR ATROPHY, MENTAL-RETARDATION AND MYOPATHY
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DOI：
10.1055/s-2008-1052473
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发表时间：
1987-08-01
期刊：
影响因子：
1.4
通讯作者：
DUBOWITZ, V
中科院分区：
文献类型：
--
作者：
HERVA, R;VONWENDT, L;DUBOWITZ, V
四例两个家庭的临床特征相似的Marinesco-Sjogren综合征。所有患者均以婴儿肌张力减退为首发症状。学龄前表现为共济失调、白内障和智力低下。CT扫描显示小脑萎缩。肌肉活检显示肌病变化，空泡变性和明显的脂肪组织增生。电镜下可见髓鞘小体和自噬空泡。结论是肌肉活检中特有的肌病和退行性改变是患者临床实体中一致的形态学特征，该综合征与Marinesco-Sjogren综合征不同。
Four patients of two families with clinical characteristics resembling those in Marinesco-Sjogren syndrome are presented. All patients had infantile hypotonia as the presenting sign. In preschool age ataxia, cataract and mental retardation manifested. CT scan revealed cerebellar atrophy. Muscle biopsy showed myopathic changes with vacuolar degeneration and marked adipose tissue proliferation. Electron microscopy showed myelin bodies and autophagic vacuoles. The conclusion is that the peculiar myopathic and degenerative findings in the muscle biopsy are a consistent morphological feature in the clinical entity of the patients and the syndrome is distinctive from Marinesco-Sjogren syndrome.