论文部分内容阅读
目的:探讨线粒体脑肌病的临床特征,为其临床诊断提供帮助。方法:对4例线粒体脑肌病患者的临床与病理资料进行了回顾性分析。结果:4例患者均有身材矮小、智力下降、有视力或听力障碍、曾反复被诊断为病毒性脑炎的特点。4例患者血乳酸水平均升高,头部影像学有异常表现,肌肉活检均可见特征性的蓬毛样红纤维。结论:4例线粒体脑肌病患者临床表现貌似病毒性脑炎,结合临床肌肉活检可明确诊断。
Objective: To investigate the clinical features of mitochondrial encephalomyopathy and provide help for its clinical diagnosis. Methods: The clinical and pathological data of 4 patients with mitochondrial encephalomyopathy were retrospectively analyzed. Results: All four patients had short stature, decreased intelligence, visual acuity or hearing impairment and were repeatedly diagnosed as viral encephalitis. All 4 patients had elevated blood lactate levels, abnormal head imaging findings and characteristic pili-like red fibers in muscle biopsies. Conclusion: The clinical manifestations of four patients with mitochondrial encephalomyopathy are viral encephalitis, which can confirm the diagnosis with clinical muscle biopsy.