摘要
目的探讨线粒体脑肌病伴高乳酸血症和脑卒中样发作(MELAS)综合征的临床、影像及病理学特点。方法回顾性分析7例MELAS综合征患者的临床资料。结果本组患者中,男1例,女6例,平均年龄21.3岁;均为卒中样起病伴癫痫发作,其中视力减退6例,运动后乏力5例,认知功能障碍2例,精神异常1例。头颅MRI检查示顶、枕叶和(或)颞叶T1WI/T2WI长或稍长信号及Flair高信号病灶,呈脑回样改变,均未见强化。4例患者肌肉活检发现有肌纤维变性,横纹消失或断裂,肌膜下出现不规则的不整红边纤维(RRF)。2例行基因检测发现有mtDNA A3243G位点突变。结论 MELAS综合征好发于青少年,以卒中样起病伴癫痫发作,可有视听力减退以及认知功能障碍等;影像学特征为病变主要累及双侧大脑半球后部皮质,呈脑回样改变;肌肉活检发现RRF。
Objective To explore of clinical,imaging and pathoogical features of mitochondrial encephalopathy with lactic acidosis and stroke-like episodes （MELAS） syndrome.Methods The clinical data of 7 MELAS syndrome patients were analyzed retrospectively.Results In this group,1 case was male,and 6 cases were female.The average age was 21.3 year old.All the patients had stroke-like onset and seizures,including vision loss in 6 cases,sports fatigue in 5 cases,cognitive dysfunction in 2 cases,mental disorders in 1 case.Brain MRI showed top,pillows and （or） temporal lobe was T1WI/T2WI length or slightly longer signal and hyperintense lesions on Flair.There were gyri like change,and lesions showed no enhancement.Muscle biopsy of 4 cases showed muscle fiber degeneration,stripes disappear or broken,ragged-red fibers （RRF） was be found under the sarcolemma.Genetic testing have mtDNA A3243G mutation in 2 cases.Conclusions MELAS syndrome mostly occur in young people,and it is characterized by the stroke-like onset accompanied by seizures.Some patients have visual and hearing loss and cognitive dysfunction,ect.The image features are lesions mainly involve the back of bilateral cerebral hemispheres,and it has gyri like change.RRF can be found by the muscle biopsy.
出处
《临床神经病学杂志》
CAS
北大核心
2014年第1期5-7,共3页
Journal of Clinical Neurology
