线粒体肌病合并周围神经病的临床病理研究

目的:分析线粒体肌病合并周围神经病的临床特点、电生理和病理特征。方法:对10例肌肉活检确诊为线粒体肌病同时又合并周围神经病的患者从临床症状与体征、电生理检查和腓肠神经活检等几方面予以分析,并探讨周围神经病的病理基础。结果:本组10例患者中1例仅有临床下受累,另外9例表现为轻中度感觉运动性周围神经病,以感觉症状为重。结论:对线粒体肌病患者应将详细的神经系统查体与神经电生理检查相结合,提高周围神经病的检出率。电生理检查和腓肠神经活检有助于诊断。周围神经病的发病机制可能与线粒体功能异常有关。

The clinical and pathological research of mitochondrial myopathy accompanied by peripheral neuropathy

Objective: To analyze the clinical, electrophysiological and pathological characteristics of mitochondrial myopathy accompanied by peripheral neuropathy. Methods: Ten patients with mitochondrial myopathy were diagnosed definitely by muscle biopsy. Clinical and electrophysiological examinations and sural nerve biopsy were done. The pathological basis of peripheral neuropathy associated with mitochondrial myopathy was discussed. Results: Only one patient was asymptomatic. The peripheral neuropathy of the other nine patients corresponded to mild and moderate sensorimotor neuropathy and sensory symptoms were more severe. Conclusion: Thorough physical and physiological examinations should be done for the patients of mitochondrial myopathy in order to improve the diagnostic rate. Eectrophysiological and pathological examinations were most helpful for the diagnosis. Probably the pathogenesis of peripheral neuropathy relates to the abnormal function of mitochondria.