单纯线粒体肌病的临床病理及近期随访

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。

The clinical,pathological,and recent follow-up of pure mitochondrial myopathy

Objective To report the clinical,muscle pathological findings and follow-up results of four cases diagnosed with pure mitochondrial myopathy,but they had been misdiagnosed as polymyositis,muscular dystrophy,spinal muscular atrophy and so on.Methods The clinical,electrophysiological and muscle biopsy pathology,and recent follow-up results were retrospectively analysed in the 4 patients.Results The clinical performance of the four cases was limb proximal muscle weakness and muscle atrophy.The lactic acid of 2 cases increased,and the other 2 normal.The creatine kinase of three cases increased slightly,and the other 1 normal.EMG showed that 3 cases had myogenic damage and one case had neurogenic damage.RRF were seen in the muscle tissue pathology of four cases.A large number of blue fibers were found in 1 case double staining of S/C.The four cases had improved to varying degrees by low-dose hormone Butylphthalide,large doses of coenzyme Q10,vitamin B2,and comprehensive treatment when they had been followed-up for three months.Three cases returned to normal work and one case’s improvement was not obvious when followed in 6 months.Conclusion The pure mitochondrial myopathy is not specific in clinical and electrophysiological examination,but its muscle biopsy pathology and tissue enzymatic staining are indispensable in diagnosing the disease,and an early mitochondrial protection treatment may be a benign course of the disease.