周围神经病、共济失调、视网膜色素变性综合征的临床和病理学特点（附1例报告）

摘要

Objective To present the clinical, pathological and genetics features of a neuropathy , ataxia, retinitis pigmentosa (NARP) syndrome mitrochronodrial disease due to 3243A>G mutation.Methods The clinical, pathological , genetic data of one NARP syndrome patient of a mitrochronodrial disease family were analyzed . ResultsThe patient first presented with polydipsia , polyuria and memory loss . Disappeared tonden reflex and cerebella signs were found on physical examination .Obvious cerebella atrophy was found on cranial MRI .EMG showed reduced nerve conduct and decreased amplitude in motor and sensory nerve fluorescerce .Ragged-red fibers was found on Gomori staining in his muscle , mitochondrial DNA sequence showed 3243A >G mutation fundus angiography showed"pepper and salt"appearance .Conclusions Mitochondrial DNA 3243A >G mutation can present as diabetes mellitus and NARP syndrome ,it is crucial to identify at earlier stages .%目的：探讨表现为周围神经病、共济失调、视网膜色素变性综合征（ NARP）的线粒体病的临床、病理及基因突变特点。方法回顾性分析一个线粒体病家系中表现为NARP综合征患者的临床、病理及基因检测资料。结果该患者首发症状为多饮多尿、记忆减退，客观检查发现腱反射消失和小脑体征。头颅MRI提示明显的小脑萎缩。 EMG提示运动感觉神经传导速度减慢、诱发电位波幅降低。眼底荧光造影见到“胡椒与盐”样改变。肌肉活检Gomori染色可见破碎红纤维。全基因测序提示线粒体基因3243A＞G杂合突变。结论线粒体基因3243 A＞G突变也可表现糖尿病和NARP综合征，临床上早期识别至关重要。