儿童Leigh综合征4例临床分析  

Clinical analysis of 4 cases of Leigh syndrome in children

作　　者：王丽辉[1] 郑华城[1] 杨花芳[1] 岳玲[1] 左月仙[1] 李宝广[1] 崔晓普[1] 

机构地区：[1]河北省儿童医院神经内科,河北石家庄050031

出　　处：《临床儿科杂志》2016年第2期111-114,共4页Journal of Clinical Pediatrics

摘　　要：目的探讨儿童Leigh综合征的临床表现、诊断及预后。方法回顾性分析4例通过基因检测确诊的Leigh综合征患儿临床资料,并复习相关文献。结果 4例患儿中,男3例、女1例,其中3例婴幼儿起病、1例学龄期起病,主要表现为智力运动发育落后、肌张力低下、惊厥、喂养困难、眼睑下垂、眼外肌麻痹及眼球震颤、易惊、活动不耐受等。头颅MRI,脑干、双侧苍白球、丘脑、小脑齿状核、中脑导水管周围对称性长T1长T2异常信号;其中累及中脑3例、丘脑1例、小脑齿状核1例;2例提示脑萎缩。肌电图检查均正常。血、脑脊液乳酸均增高。线粒体DNA(mt DNA)检测,1例为mt DNA 8993 T>G突变,其余3例mt DNA9176 T>C突变。学龄期起病患儿发病1月后死于呼吸衰竭,另3例仍在随访中,有智力运动发育落后,但无明显倒退。结论儿童Leigh综合征临床表现多样,诊断主要依靠典型临床表现及MRI、血和/或脑脊液乳酸水平升高为依据,基因检测为诊断金标准。Objective To explore the clinical manifestation,diagnosis and prognosis of Leigh syndrome in children.Method Clinical data from 4 cases of Leigh syndrome confirmed by genetic testing were retrospectively analyzed.The related literature were reviewed.Results In 4 cases,3 were boys and one was a girl,3 cases were onset in infant and one case was in school age.The main manifestations were mental retardation,low muscle tone,convulsions,feeding difficulties,drooping eyelids,extraocular muscle paralysis and nystagmus,irritation,activity intolerance etc.The brain magnetic resonance imaging（MRI） revealed symmetry long T1,T2 abnormal signal in brainstem,bilateral globus pallidus,thalamus,cerebellar dentate nuclei,and periaqueductal,3 cases involved midbrain,one case involved thalamus,and one case involved cerebellar dentate nuclei; 2 cases had encephalatrophy.Electromyography was normal in all cases.The levels of lactate in blood and cerebrospinal fluid were increased.Mitochondrial DNA（mt DNA） detection found the mutation of mt DNA 8993 TG in one case,and the mutation of mt DNA 9176 TC in another 3 cases.The case onset in school age died of respiratory failure one month later,and another 3 cases were still in follow up,there were mental retardation,but no significant setback.Conclusion The clinical manifestations of Leigh syndrome in children are diverse.The diagnosis is based on the typical clinical manifestations and MRI,blood and/or cerebrospinal fluid lactate levels.The genetic testing is the golden standard for diagnosis.

关 键 词：LEIGH综合征 眼睑下垂 线粒体基因 儿童 

分 类 号：R725.9[医药卫生—儿科]