【摘要】 目的探讨线粒体脑肌病的临床病理特点及误诊原因。方法结合文献对线粒体脑肌病的病理特点及误诊原因进行回顾性分析。结果患者表现为头痛、抽搐、卒中样发作,曾被误诊为癫、颅内感染、脉管炎和脑梗死,经乳酸运动试验、肌肉活检和基因检测确诊为线粒体脑肌病(MELAS型)。结论线粒体脑肌病临床表现复杂多样,临床诊断困难,全面掌握线粒体脑肌病的临床病理知识,有助于本病的诊断和治疗。更多还原

【Abstract】 Objective To investigate the clinical and pathological characteristics of mitochondrial encephalomyopathy and the misdiagnostic reasons. Methods The pathological characteristic and the misdiagnostic reason of mitochondrial encephalomyopathy were analysed retrospectively referred to literature. Results The patient was a eight-year-old girl, diagnosised initially as elilepsy, intracranial infections and cerebral infarct because of her headache, seizure and stroke-like episodes, and diagnosised finally as MELAS syndrome through the means of detecting serum lactic level after exercising, gene detection and biopsy of muscle. Conclusions Mitochondrial encephalomyopathy is easily misdiagnosised. The full clinical and pathological knowledge of mitochondrial encephalomyopathy is very important to make a correct diagnosis and treatment.更多还原