线粒体呼吸链复合物Ⅱ缺陷所致Leigh综合征  

Leigh syndrome due to mitochondrial respiratory chain complex Ⅱ deficiency

作　　者：马艳艳[1] 吴桐菲[1] 刘玉鹏[1] 王峤[1] 宋金青[1] 肖江喜[2] 姜玉武[1] 杨艳玲[1] 

机构地区：[1]北京大学第一医院儿科,北京100034 [2]北京大学第一医院影像科,北京100034

出　　处：《中国当代儿科杂志》2011年第7期569-572,共4页Chinese Journal of Contemporary Pediatrics

基　　金："十一五"国家科技支撑计划课题(编号2006BAI05A07);国家自然科学基金(编号30872794)

摘　　要：线粒体呼吸链复合物Ⅱ缺陷是较为少见的氧化磷酸化障碍性疾病。本文对1例单纯线粒体呼吸链复合物Ⅱ缺陷所致Leigh综合征患儿的诊疗进行回顾性分析。患儿,男,10个月,8个月时出现发热,热退后出现进行性全身无力、运动发育倒退和吞咽困难。血乳酸、丙酮酸增高,脑MRI显示双侧基底节对称性损害。对患儿进行了外周血白细胞线粒体氧化磷酸化酶复合物I-V活性测定和线粒体基因突变位点筛查分析。线粒体呼吸链复合物Ⅱ活性为21.9 nmol/min.mg线粒体总蛋白(正常对照47.3±5.3 nmol/min.mg线粒体总蛋白),柠檬酸合酶活性为22.1%(正常对照50.9%±10.7%),均显著降低。线粒体基因分析未发现异常。患儿确诊为线粒体呼吸链复合物Ⅱ缺陷所致Leigh综合征。经治疗患儿运动功能明显恢复。目前患儿22个月,病情稳定。Mitochondrial respiratory chain complex Ⅱ deficiency is a rare documented cause of mitochondrial diseases.This study reported a case of Leigh syndrome due to isolated complex Ⅱ deficiency.A boy presented with progressive weakness,motor regression and dysphagia after fever from the age of 8 months and hospitalized at the age of 10 months.Elevated blood levels of lactate and pyruvate were observed.Brain magnetic resonance image showed symmetrical lesions in the basal ganglia.Mitochondrial respiratory chain complex I-V activities in peripheral leukocytes were measured using spectrophotometric assay.Mitochondrial gene screening of common point mutations was performed.The complex Ⅱ activity in the peripheral leukocytes decreased to 21.9 nmol/min per mg mitochondrial protein（control： 47.3±5.3 nmol/min per mg mitochondrial protein）.The ratio of complex Ⅱ activity to citrate synthase activity（22.1%） also decreased（control： 50.9%±10.7 %）.No point mutation was found in mitochondrial DNA.The boy was diagnosed as Leigh syndrome due to isolated complex Ⅱ deficiency.Psychomotor improvements were observed after the treatment.The patient is 22 months old and in a stable condition.

关 键 词：LEIGH综合征 线粒体 线粒体呼吸链复合物Ⅱ缺陷 线粒体氧化磷酸化 儿童 

分 类 号：R725.9[医药卫生—儿科]