小儿线粒体性脑肌病4例报告

目的研究小儿线粒体性脑肌病临床特点及其诊断标准。方法总结临床特点，检测血清乳酸及丙酮酸水平，行肌电图、ＣＴ脑扫描、肌活检组织化学染色及电子显微镜超微结构检查。结果４例患儿表现为肌无力，肌萎缩，眼外肌麻痹，身材矮小，癫痫，进行性智力、听力和视力障碍。实验室检查示血乳酸水平升高。肌电图示肌病特点。脑ＣＴ见脑萎缩及基底节对称性钙化。肌活检改良Ｇｏｍｏｒｉ三色染色可见蓬松红纤维。电子显微镜可见形态结构异常的巨大线粒体，部分线粒体内含结晶样包涵体。本文对临床特点、诊断标准、治疗及预后进行了讨论。结论小儿线粒体脑肌病罕见，临床特点及肌肉病理检查是诊断本病的重要根据。

Mitochondrial encephalomyopathies in children:a report of 4 cases.

Objective To study the clinical features and diagnostic criteria of mitochondrial encephalomyopathies in children .Methods Plasma lactate level measurement, EMG examination, CT brain scan, muscle biopsy and electron microscopy examination.Results Laboratory investigations have shown increased lactate level.EMG appeared a myopathy feature.Cerebral atrophy and symmetric bilateral calcification of basal ganglia were seen on CT brain scan.Muscle biopsy with the modified Gomori trichrome method showed "ragged red" fibers(RRF).Electron microscopy showed enlarged mitochondrion with it's cristae distended by single paracrystalline inclusions .Conclusion Mitochondral encephalomyopathies are rare disease in children.The clinical features and muscle biopsy are essential for diagnosis of the disease.