摘要
目的 线粒体脑肌病的发病机制为线粒体功能障碍导致三磷酸腺苷(ATP)合成障碍、能量来源不足,从而累及中枢神经系统和全身肌肉,临床上较为少见.研究旨在提高临床医生对线粒体脑肌病的认识和诊断水平,从而采取及时、合理的治疗,改善患者预后.方法 回顾分析并随访重庆医科大学附属儿童医院、附属第一医院、附属第二医院1998年2月-2014年6月入院的11例线粒体脑肌病患者的一般资料、临床表现、实验室资料、影像学资料、肌肉活检和基因检测、治疗及预后等情况,复习文献并总结线粒体脑肌病的临床特点.结果 11例患者平均年龄17岁,1例有家族史,7例首诊误诊,发作性起病9例,隐匿起病2例,病程中出现癫痫发作者10例.9例在发病后行血清乳酸水平测定,其中8例升高.9例行MRI检查,均发现异常,10例行脑电图检查,9例出现异常.6例行肌肉组织活检检查,均发现典型的破碎红纤维.6例行分子遗传学检测,均发现致病突变.出现癫痫发作的10例患者中,3例使用单种抗癫痫药物在住院期间癫痫发作得以控制,另7例使用单种抗癫痫药物后均出现癫痫复发,在调整用药后或联合用药的情况下于住院期间癫痫发作得以控制.结论 线粒体脑肌病常伴有癫痫的发作,且多见于儿童,常伴有全身肌肉症状,临床表现并不典型,且症状复杂多样,临床极易误诊.线粒体脑肌病于中枢神经系统主要累及非主要颅内动脉分布区域(顶叶、颞叶、枕叶等),具有颅内多部位同时受累的特点.线粒体脑肌病患者通常可检测到血清乳酸水平升高,但乳酸水平正常也不能排除该病的可能,目前主要通过肌肉活检或基因检测确诊.线粒体脑肌病尚无特异性治疗措施,仍以对症治疗为主,预后较差.
Objective Mitochondrial encephalomyopathy is a series nf diseases that drag in central nerVous system and generalized muscLes.The pathogenesis of the disease is lack of ATP for the dysfunction of mitochondria.The misdiagnosis mte of lhe disease is high and the purpose of this study is to improve the recognition and diagnosis of mitochondrial encephalomyopathy and thus,clinicians could take rational treatment in time and improve patients’prognosis.Methods The clinical data of 11 patients with mitochondrial encephalomyopathy were analyzed including the physical data,clinical presentations,labomtory data,neuroimaging findings,muscIe biopsy,genetic testing,treatment and prognosis.Reviewing literature and summadzing the clinical characteristics of mitochondrial encephalomyopathy.Results Among the 11 patients with mitochondrial encephalomyopathy,the mean age was 17 years old.1 case had family history.7 cases were misdiagnosed in the nrst clinic visit.The onset of the 11 cases,9 were paroxysmal and 2 were hidden.In the course,10 cases had an epileptic seizure.Among the 9 cases who took the determination of serum lactate,8 was in high level.9 cases had MRI examination and aU found abnomality,10 patients had EEG examination,and 9 cases found abnormality,6 cases had muscle biopsy and all found the ragged red fiber(RRF).6 cases had molecular genetic testing,and aU found mutations in mitochondrial DNA.Among the 10 cases who had epileptic seizure,3 cases can be controlIed with single kind of antiepileptic dnlg.The other 7 cases had a recun℃nce of epilepsy with single kind of aIltiepileptic dmgs,but can be cotrolled after dmg adjusting or dmg combination.Conclusion Mitochondrial encephalorrlyopathy is often accompanied by seizure,which is usually found in children,and also often accompanied by systemic muscle symptoms.The clinical manifestations of the disease is not typical,but is complex and vaded symptoms,so the clinical misdiagnosis mte is high.Mitochondrial encephalomyopathy mainly involves the main intracranial artery distribution area(parietal lobe,temporal lobe,occipital lobe,etc.)in central nervous system,and can involve more than one pan.Patients with mitochondrial myopathy brain are usually detected the elevation of serum lactate levels,but if the lactic acid level is normal,it does not rule out the possibility of the disease,the confirmation of the disease is maillly by muscle biopsy or genetic tests.There is no speci6c treatment for mitochondrial encephalomyopathy till now,and it still give priority to symptomatic treatment.And the pmgnosis is poorer.
作者
李秋凤
陈阳美
曾可斌
肖飞
洪思琦
LI Qiufeng;CHEN Yangmei;ZENG Kebin;XIAO Fei;HONG Siqi(Department of Neurology,The Second Affiliated Hospital of Chongqing Medical University,Chongqing 400010,China;Department of Neurology,Raditional Chinese Medical Hospital of Yubei District,Chongqing 401120,China;Department of Neurology,The First Affiliated Hospital of Chongqing Medical University,Chongqing 400042,China;Department of Neurology,Children's Hospital of Chongqing Medical University,Chongqing 400014,China)
出处
《癫痫杂志》
2016年第1期18-23,共6页
Journal of Epilepsy
基金
国家自然科学基金(81571259).
关键词
线粒体脑肌病
癫痫
肌肉活检
基因检测
Mitochondrial encephalomyopathy
Epilepsy
Muscle biopsy
Genetic testing
作者简介
李秋风,医学硕士,重庆市渝北区中医院医师,E-mail:779122394@qq.com;通讯作者:陈阳美,E-mail:chenyml997@sina.com
