新发TYMP基因突变致成人线粒体神经胃肠型脑肌病1例并文献复习

Mitochondrial neurogastrointestinal encephalomyopathy caused by a novel TYMP gene mutation in adult patient:a case report and literature review

目的总结线粒体神经胃肠型脑肌病(mitochondrial neuro gastrointestinal encephalomyopathy, MNGIE)的临床、影像、神经电生理和遗传学特点。方法报告1例MNGIE患者的临床资料,回顾国内外报道MNGIE病例的文献,总结MNGIE的临床、影像、神经电生理和遗传学特点。结果本例为女性,46岁,体型消瘦,以眼外肌麻痹为主要症状,神经传导检测提示周围神经损害,肌电图提示肌病性合并神经源性运动单位电位,颅脑MRI可见弥漫性对称性脑白质病变,基因检测确诊为TYMP基因2个新发复合杂合致病突变的MNGIE。结论报道1例TYMP基因新发复合杂合突变所致的MNGIE。该病临床上较罕见,预后较差,目前尚无特效治疗手段。

Objective To summarize and analyze the clinical, imaging, electrophysiological and genetic characteristics of mitochondrial neurogastrointestinal encephalomyopathy(MNGIE). Methods A Chinese case of MNGIE was reported. The literatures of MNGIE cases reported were reviewed. The clinical, imaging, electrophysiologic and genetic characteristics of MNGIE were summarized. Results The patient was a 46 year-old female with physical body weight loss. The main clinical manifestations were external ophthalmoplegia. Nerve conduction study showed peripheral neuropathy, electromyogram showed myopathic and neurogenic motor unit potentials, and brain MRI showed symmetric and confluent leukoencephalopathy. The diagnosis was confirmed by genetic analysis and 2 novel heterozygous mutations were found in the TYMP gene. Conclusions We report a case of MNGIE caused by novel complex heterozygosity mutation of TYMP gene. The disease is rare and its prognosis is poor. There is no special therapeutic method at present.