伴有父母近亲结婚的脑肝肾综合征。
Cerebro-hepato-renal syndrome with parental consanguinity.
作者信息
Variend S, Timperley W R, Hill S, Taitz L S
出版信息
Dev Med Child Neurol. 1976 Oct;18(5):660-5. doi: 10.1111/j.1469-8749.1976.tb04213.x.
Abstract
A case of cerebro-hepato-renal syndrome with some unusual features is reported. The neuropathological findings are described in detail. Electronmicroscopy showed astrocytes in the demyelinated areas of the brain to contain granules composed of laminated osmiophilic material. These structures could be abnormal mitochondria. The parental consanguinity in this case would further support an autosomal recessive mode of inheritance.
摘要
报告了一例具有一些不寻常特征的脑肝肾综合征病例。详细描述了神经病理学发现。电子显微镜检查显示，大脑脱髓鞘区域的星形胶质细胞含有由层状嗜锇物质组成的颗粒。这些结构可能是异常线粒体。该病例中的近亲结婚将进一步支持常染色体隐性遗传模式。
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