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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 investigate the causes of misdiagnosis of children with mitochondrial encephalomyelitis and lactic acidosis syndrome (MELAS) and to improve the early diagnosis and treatment of the disease. Methods A retrospective analysis was performed on the clinical manifestations, laboratory tests, imaging and pathology of a child with MELAS syndrome misdiagnosed as epilepsy. Results The main manifestations of the patients were fever, convulsions, muscle weakness, hearing and visual impairment, aphasia, stroke-like episodes, mental retardation, growth retardation, increased blood lactate; EEG showed abnormal EEG; Pathological examination revealed mitochondrial increase and morphological abnormalities. MRI showed that the left parietal lobe and the right temporal lobe of the head showed multiple long T1 long T2 signals that did not meet the cerebral vascular distribution. The result of the gene test was heterozygous mutation at the A3243G locus. Conclusion The diagnosis of MELAS syndrome must be combined with clinical, neuroimaging, pathology and genetic testing. MELAS syndrome should be considered in patients with epilepsy, which can not be explained clinically. Early diagnosis and active treatment, to improve the overall prognosis of patients with important clinical significance.