CAJ | 학술논문

目的探讨Duchenne和Becker型肌营养不良(DMD和BMD)患儿合并癫痫的发生率、临床表现及分子遗传学特点.方法回顾性分析2006年2月至2014年9月北京大学第一医院儿科诊治的307例DMD和BMD患儿的资料,就诊年龄2个月～19岁,均为男性,发现合并癫痫者7例,收集其一般资料、临床表现、脑电图、头颅影像学、肌肉病理以及基因突变结果,并对治疗及预后进行随访.结果 (1)癫痫发生率:在307例DMD和BMD患儿中,合并癫痫者7例(2.28％),其中DMD4例、BMD 3例,均无热性惊厥或癫痫家族史.(2)临床特点:均符合典型的DMD和BMD的临床表现;首次惊厥发作年龄8个月～11岁;6例局灶性发作,1例全面强直阵挛发作,均未发生过癫痫持续状态;4例患儿发作间期脑电图监测到痫样放电,余3例发作间期脑电图正常;其中1例结合典型临床表现和脑电图结果,诊断为儿童良性癫痫伴中央颞区棘波.随访患儿1～8年,6例应用了抗癫痫药物,5例单药控制良好,另1例应用2种药物亦控制良好;6例患儿智力正常,1例轻度落后.(3)分子遗传学:6例患儿发现DMD基因大片段缺失,1例发现DMD基因的点突变.结论 DMD和BMD患儿合并癫痫者并不少见,患儿首次惊厥发作年龄跨度较大,以局灶性发作为主,多数发作控制良好.未发现智力障碍和癫痫发作之间有相关性.尚缺乏明确的基因型-表型相关性.
목적 탐토Duchenne화Becker형기영양불량(DMD화BMD)환인합병전간적발생솔、림상표현급분자유전학특점.방법 회고성분석2006년2월지2014년9월북경대학제일의원인과진치적307례DMD화BMD환인적자료,취진년령2개월～19세,균위남성,발현합병전간자7례,수집기일반자료、림상표현、뇌전도、두로영상학、기육병리이급기인돌변결과,병대치료급예후진행수방.결과 (1)전간발생솔:재307례DMD화BMD환인중,합병전간자7례(2.28％),기중DMD4례、BMD 3례,균무열성량궐혹전간가족사.(2)림상특점:균부합전형적DMD화BMD적림상표현;수차량궐발작년령8개월～11세;6례국조성발작,1례전면강직진련발작,균미발생과전간지속상태;4례환인발작간기뇌전도감측도간양방전,여3례발작간기뇌전도정상;기중1례결합전형림상표현화뇌전도결과,진단위인동량성전간반중앙섭구극파.수방환인1～8년,6례응용료항전간약물,5례단약공제량호,령1례응용2충약물역공제량호;6례환인지력정상,1례경도락후.(3)분자유전학:6례환인발현DMD기인대편단결실,1례발현DMD기인적점돌변.결론 DMD화BMD환인합병전간자병불소견,환인수차량궐발작년령과도교대,이국조성발작위주,다수발작공제량호.미발현지력장애화전간발작지간유상관성.상결핍명학적기인형-표형상관성.
Objective To summarize the clinical features of those Duchenne and Becker muscular dystrophy (DMD and BMD) patients who are complicated with epilepsy,and try to analyze the genotypephenotype correlation.Method By a retrospective analysis of 307 patients with DMD and BMD who attended Peking University First Hospital from February 2006 to September 2014,7 patients complicated with epilepsy were identified and their clinical data were collected.The possible mechanism of epilepsy in DMD and BMD patients was proposed after analyzing the genotype-phenotype correlation.Result (1) Among 307 DMD and BMD patients,7 cases had epilepsy,the prevalence was 2.28％.(2) The age of onset of epilepsy ranged from 8 months to 11 years.Focal seizure was the most common seizure type (6 cases),while other seizure types were also involved,such as generalized tonic-clonic seizure.As to epilepsy syndromes,1 boy was diagnosed as benign childhood epilepsy with centrotemporal spikes (BECT).Six patients were treated with 1 or 2 types of antiepileptic drugs and seizures were controlled well.On follow-up,6 of the 7 children had normal mental development,while the remaining 1 patient was diagnosed as mild mental retardation.(3) DMD gene mutations of all 7 patients were analyzed.Exons deletions were found in 6 cases while point mutation was found in 1 case.Conclusion The prevalence of epilepsy in DMD and BMD patients was higher than the prevalence in normal population.The age of onset of epilepsy varies,and focal seizure may be the most common seizure type.Some patients may also present as some kind of epilepsy syndrome,such as BECT.In most patients,seizures can be controlled well by 1 or 2 types of antiepiletic drugs.No clear correlation was found between genotype and phenotype in DMD and BMD patients who were complicated with epilepsy,probably due to limited number of cases.