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目的报道4例曾被误诊为多发性肌炎、肌营养不良症和脊肌萎缩症而后被确诊的单纯线粒体肌病的临床、肌肉病理表现和随访结果。方法对4例患者的临床、肌肉组织病理和近期随访结果进行总结和回顾性分析。结果 4例患者临床均表现为四肢近端肌无力和肌萎缩,血乳酸2例升高、2例正常,肌酸激酶3例轻度升高、1例正常,肌电图3例肌源性损害、1例神经源性损害。肌肉组织病理4例均可见RRF,1例S/C双染发现大量蓝纤维。经过小剂量激素、丁苯酞、大剂量辅酶Q10和维生素B2等综合治疗,随访3个月病情均有不同程度好转,随访6个月3例已恢复到正常工作,1例好转不明显。结论单纯线粒体肌病的临床表现及电生理检查无特异性,肌肉组织病理及组织酶学染色是诊断该病的一个不可缺少的手段,经过治疗大部分病例近期可获得良好疗效。
Objective To report the clinical, muscle pathological findings and follow-up results of 4 cases of simple mitochondrial myopathy which have been misdiagnosed as polymyositis, muscular dystrophy and spinal muscular atrophy. Methods The clinical, muscular histopathology and recent follow-up results of 4 patients were summarized and retrospectively analyzed. Results The clinical manifestations of 4 patients were all myasthenia gravis and muscle atrophy in the proximal extremities. There were 2 cases of elevated blood lactate, 2 cases of normal, 3 cases of mild creatine kinase increased, 1 case of normal, 3 myogenic electromyogram Damage, 1 case of neurogenic damage. In 4 cases of muscle tissue pathology were seen RRF, 1 case of S / C double staining found a large number of blue fibers. After a small dose of hormone, butylphthalide, high-dose coenzyme Q10 and vitamin B2 and other comprehensive treatment, follow-up of 3 months the disease was improved to varying degrees, 6 months follow-up 3 cases have returned to normal work, 1 case was not obvious improvement. Conclusion The clinical manifestations of mitochondrial myopathy and electrophysiological examination of nonspecific muscle tissue and tissue enzymatic staining is an indispensable tool in the diagnosis of the disease, the majority of cases after treatment can be a good effect in the near future.