【摘要】 目的探讨3-甲基戊烯二酸尿症伴耳聋、脑病及Leigh样综合征（MEGDEL综合征）的临床诊断学特征。方法回顾性分析济宁医学院附属医院神经内科收治的1例MEGDEL综合征患者临床资料,并复习文献。结果男性患者,22岁,主要表现为精神发育迟缓、进行性肌张力障碍及一过性肝功能异常,尿液中3-甲基戊二酸（23.28 mmol/mol肌酐）和3-甲基戊烯二酸（145.71 mmol/mol肌酐）水平增高,对其进行基因检测首次发现SERAC1基因存在复合杂合突变,分别是c.1498G>A及c.1645₁646 insATC,经证实为MEGDEL综合征。结论 MEGDEL综合征主要损害中枢神经系统,表现为精神运动发育迟滞和进行性肌张力障碍;确诊依赖于基因检测,表现为SERAC1基因突变。更多还原

【Abstract】 Obiective To explore the clinical diagnostic features of 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome（MEGDEL syndrome）. Methods The clinical data of a 22-year-old patient who was diagnosed in Department of Neurology, Affiliated Hospital of Jining Medical University was retrospectively analyzed, and relevant literatures were reviewed. Results The male patient with 12-year-old onsets were mainly characterized by neurodegeneration, progressive dystonia and transient liver dysfunction, increased levels of 3-methylglutaric aciduria（23.28 mmol/mol creatinine） and 3-methylglutaconic aciduria（145.71 mmol/mol creatinine） in urine. For genetic testing, it was the first time that found compound heterozygous mutations in the SERAC1 gene c.1498 G>A and c.1645₁646 insATC.Finally,this patient was confirmed to be MEGDEL syndrome. Conclusions MEGDEL syndrome mainly damages the central nervous system.Affected patients show neurodegeneration and progressive dystonia. Confirmation of diagnosis delies on the identification of a disease-causing mutation in the SERAC1 gene.更多还原