儿童MELAS综合征临床误诊分析

Clinical analysis of misdiagnostic cause of MELAS syndrome in children

目的探讨儿童线粒体脑肌病高乳酸血症和卒中样发作综合征(MELAS)临床的误诊原因,提高对该病的早期诊断和治疗能力。方法对1例长期误诊为癫痫的MELAS综合征儿童患者的临床表现、实验室检查、影像、病理进行回顾性分析。结果该患者的主要表现为发热、抽搐、肌无力、听力和视力障碍、失语、脑卒中样发作、智力下降、生长发育迟滞、血乳酸增高等;脑电图检查提示广泛性异常脑电图;病理检查可见线粒体增加及形态结构异常;头部MRI示左侧顶叶及右侧颞枕顶表现为不符合脑血管分布的多发长T1长T2信号;基因检测结果为A3243G位点杂合突变。结论 MELAS综合征的诊断必须与临床、神经影像学、病理、基因检测相结合,对于临床无法解释的青少年脑卒中、癫痫患者首先应考虑MELAS综合症。早期诊断及积极治疗,对于改善患者整体预后具有重要的临床意义。

Objective To explore the causes of misdiagnosis of mitochondrial myopathy encephalophathy with lactic acidosis and stroke-like episodes （MELAS syndrome） in a child . Methods The data of clinical manifestation, laboratory test, imaging changes and muscle pathologies of 1 patient with MELAS syndrome were retrospectively analyzed. The child was misdiagnosed as epilepsy for a long term. Results The patient is mainly characterized by fever, convulsions, muscle weakness, hearing and visual impairment, aphasia, stroke-like episode, and mental decline, growth retardation, increased blood lactic acid, etc; EEG examination showed extensive abnormal; the biopsy in the muscle showed mitochondrial increase and morphological abnormalities; Cerebral MRI showed multiple long T1 and long T2 signals in left parietal lobe and right temporal pillow parietal lobe not in conformity with the vascular distribution; A3243G mutation in the mitochondrial DNA were also noticed in the patient. Conclusion The diagnosis of MELAS should comprehensively depend on clinical features, results of neuroimaging, pathology and gene mutation detection. MELAS syndrome should be firstly considered to the epilepsy patients among unexplained youth stroke patients. Early diagnosis and treatment are of great significance for improvement of prognosis of MELAS syndrome patients.