线粒体基因13513G>A突变导致呼吸链酶复合物I缺陷Leigh综合征  

A case of Leigh syndrome associated with respiratory chain complex I deficiency due to mitochondrial gene 13513G>A mutation

作　　者：魏晓琼[1] 孔庆鹏[2] 张尧[1] 杨艳玲[1] 常杏芝[1] 戚豫[3] 齐朝月[4] 肖江喜[5] 秦炯[1] 吴希如[1] 

机构地区：[1]北京大学第一医院儿科,北京100034 [2]中科院昆明动物研究所分子进化与基因组多样性实验室,云南昆明650223 [3]北京大学第一医院中心实验室,北京100034 [4]中国人民解放军海军总医院医学影像科,北京100037 [5]北京大学第一医院医学影像科,北京100034

出　　处：《中国当代儿科杂志》2009年第5期333-336,共4页Chinese Journal of Contemporary Pediatrics

基　　金：国家自然科学基金面上项目(30872794);十一五国家科技支撑计划项目(2006BAI05A00)资助

摘　　要：Leigh综合征是由于线粒体呼吸链能量代谢障碍所导致的遗传性疾病,呼吸链酶复合物I缺陷是导致Leigh综合征的常见原因之一。该研究通过线粒体基因13513G>A突变分析首次确诊了1例中国人Leigh综合征患者。患儿为第一胎,12岁时出现抽搐,13岁时先后出现双眼视力下降,13岁来院就诊左眼颞侧视野缺损,痉挛步态,血液乳酸、丙酮酸增高,腓肠肌活检肌纤维内脂滴轻度增多;心电图检查显示不完全右束支传导阻滞;脑MRI显示双侧基底节对称性损害,符合Leigh综合征诊断,合并继发性癫癎。经基因分析证实患者存在线粒体基因13513G>A突变,导致线粒体呼吸链酶复合物I活性下降。治疗以多种维生素为主,补充左旋肉碱、辅酶Q10,同时给予卡马西平、苯巴比妥、丙戊酸等抗癫癎治疗。现在患儿16岁,休学,智力无明显倒退,体力、体重显著减退。Leigh综合征病因复杂,临床表现多种多样,该患儿以抽搐起病,合并视力减退,经基因分析明确了病因,有助于相关家庭的遗传咨询。Leigh syndrome is a genetically heterogeneous disease caused by defects in enzymes involved in aerobic energy metabolism and the Krebs＇ cycle. Mitonchondrial complex I deficiency is a main cause of Leigh syndrome. In this study, a Chinese child with Leigh syndrome caused by 13513 G 〉 A mutation was reported. The proband was the first child of his parents. The previously healthy boy presented with generalized epilepsy at 12 years of age. When he visited Peking University First Hospital at 13 years of age, he had subacute loss of vision in two eyes and temporal defect of visual field in the left eye. He walked with a spastic gait. His blood lactate and pyruvate levels were elevated. Muscle biopsy showed mild lipid accumulation in muscle fiber. An electrocardiogram showed incomplete right bundle branch block. Brain magnetic resonance imaging showed bilateral, symmetrical lesions in the basal ganglia, supporting the diagnosis of Leigh syndrome. 13513G 〉 A mutation was identified by gene analysis in the patient, which led to mitochondrial respiratory chain complex I deficiency. Multivitamins and L-carnitine were administered. At present, the patient is 16 years old and has progressive deterioration with significant muscle weakness and body weight loss. He is absent from school. He has no obvious retardation in intelligence. 13513G 〉 A mutation was first identified by gene analysis in Chinese population with Leigh syndrome. This may be helpful in genetic counseling.

关 键 词：亚急性坏死性脑脊髓病(Leigh综合征) 线粒体呼吸链酶 复合物I缺陷 线粒体基因 13513G〉A突变 儿童 

分 类 号：R748[医药卫生—神经病学与精神病学]