Hirano M, Silvestri G, Blake D M, Lombes A, Minetti C, Bonilla E, Hays A P, Lovelace R E, Butler I, Bertorini T E
Department of Neurology, Columbia-Presbyterian Medical Center, College of Physicians and Surgeons, Columbia University, New York, NY.
Neurology. 1994 Apr;44(4):721-7. doi: 10.1212/wnl.44.4.721.
We studied the clinical, biochemical, and genetic features of eight patients with the autosomal recessive mitochondrial syndrome mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). MNGIE is clinically characterized by ophthalmoparesis, peripheral neuropathy, leukoencephalopathy, gastrointestinal symptoms (recurrent nausea, vomiting, or diarrhea) with intestinal dysmotility, and histologically abnormal mitochondria in muscle. Brain MRI scans were consistent with leukodystrophy in seven patients examined. Nerve conduction and EMG studies were compatible with a sensorimotor neuropathy; quantitative EMG of two patients suggested a myogenic process. Muscle mitochondrial enzyme analysis revealed a partial defect of cytochrome c oxidase activity in five patients; three had additional respiratory chain enzyme defects. Two patients had isolated complex I defects, and one had normal respiratory chain function. Southern blot analysis revealed multiple deletions of mitochondrial DNA in four of eight patients.
我们研究了8例常染色体隐性线粒体综合征——线粒体神经胃肠性脑肌病（MNGIE）患者的临床、生化及遗传学特征。MNGIE的临床特征为眼肌麻痹、周围神经病变、白质脑病、伴有肠道运动障碍的胃肠道症状（反复恶心、呕吐或腹泻）以及肌肉中线粒体组织学异常。7例接受检查的患者脑部MRI扫描结果与脑白质营养不良相符。神经传导和肌电图研究结果与感觉运动性神经病变相符；2例患者的定量肌电图提示有肌源性病变过程。肌肉线粒体酶分析显示，5例患者细胞色素c氧化酶活性存在部分缺陷；3例患者还有其他呼吸链酶缺陷。2例患者存在孤立的复合体I缺陷，1例患者呼吸链功能正常。Southern印迹分析显示，8例患者中有4例线粒体DNA存在多处缺失。
