摘要
目的探讨线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)综合征的临床症状、EEG、影像学及肌肉病理特点,以提高对其认识及诊断的正确率。方法回顾性分析6例基因确诊的MELAS综合征患者的临床资料,分析其临床表现、EEG、影像学、肌肉病理特点。结果6例患者中男性4例,女性2例,年龄最大者43岁,最小者4岁,平均起病年龄(15.00±13.10)岁。临床主要表现为痫性发作(100%)、卒中样发作(50.0%)、形体矮小(50.0%)、认知功能下降(66.7%)、共济失调(33.3%)、血乳酸增高(83.3%)等;6例EEG检查示4例顶、枕、颞区局灶性癫痫样放电,2例广泛性δ波,其中1例伴弥漫性1.5~2.0 Hz多棘慢、慢棘慢波发放。影像学检查:头颅MRI示4例顶、枕、颞区呈长T1、长T2改变,DWI高信号改变伴脑室扩大、脑沟裂增宽,2例未见明显异常;1例磁共振波谱分析(MRS)示左枕区乳酸峰升高,N-乙酰天门冬氨酸峰减低。肌活检:5例见蓬毛样红纤维,5例CCO染色见强烈反应性血管增生现象(SSVs);3例SDH染色见SSVs。结论MELAS综合征的临床多表现为癫痫、卒中、发育迟缓、智能减低等。EEG多表现为背景异常、局灶性放电,发作期可见多种发作图形,且局灶性放电部位多与影像学病灶一致。头颅MRI多显示病灶位于大脑半球后部,顶、枕、颞多见,不按脑血管分布。MRS可出现N-乙酰天门冬氨酸峰下降和乳酸峰升高。肌肉病理多见蓬毛样红纤维及SSVs。
Objective To explore the clinical symptoms,EEG,imaging and muscle pathological characteristics of mitochondrial encephalopathy,lactic acidosis,and stroke-like episodes(MELAS)syndrome,in order to improve its understanding and diagnosis accuracy.Methods Clinical data of 6 patients with genetically diagnosed MELAS syndrome were collected and their clinical manifestations,EEG,imaging,and muscle pathological characteristics were analyzed.Results Among the 6 patients,there were 4 males and 2 females.The oldest was 43 years old and the youngest was 4 years old.The average age of onset was(15.00±13.10)years.The main clinical manifestations were seizures(100%),stroke-like attacks(50.0%),short stature(50.0%),cognitive decline(66.7%),ataxia(33.3%),and increased blood lactate(83.3%).EEG examination in 6 cases:focal epileptiform discharges in parietal,occipital,and temporal areas in 4 cases,and extensiveδwaves in 2 cases,including 1 case with diffuse 1.5-2.0 Hz multispike slow and slow spine slow wave release.Imaging examination:MRI showed that 4 cases of changes in the parietal,occipital,and temporal regions showed long T1,long T2 changes,high DWI changes with enlarged ventricles,and widening of the sulcus,and no obvious abnormalities were found in 2 cases;Magnetic resonance spectrum(MRS)showed left occipital the lactic acid peak increased and the N-Acetyl Aspartate peak decreased in one case.Muscle biopsy showed that 5 cases demonstrate ragged red fiber,5 cases of CCO staining demonstrate strongly succinatedehydrogenase-reactive(SSVs);3 cases of SDH staining demonstrate SSVs.Conclusions The clinical manifestations of MELAS syndrome are mostly epilepsy,stroke,stunting,decreased intelligence,etc.The EEG is mostly manifested as abnormal background and focal electrical discharge.Various seizure patterns can be seen during the seizure period.The focal discharge sites were mostly consistent with the imaging lesions;cranial MRI showed that the lesions were located in the posterior part of the cerebral hemisphere,and the parietal,occipital,and temporal regions were more common.MRS can show N-Acetyl Aspartate peak decline and lactic acid peak increase.Muscle pathology is more common in ragged red fiber and SSVs.
作者
赵静
王训
程楠
喻绪恩
孙道银
韩桂玲
年娜
沙从波
杨任民
ZHAO Jing;WANG Xun;CHENG Nan(Department of Special Examination,Affiliated Neurological Hospital of Anhui University of Chinese Traditional Medicine,Hefei 230061,China)
出处
《临床神经病学杂志》
CAS
2021年第2期121-126,共6页
Journal of Clinical Neurology
关键词
线粒体脑肌病伴乳酸血症和卒中样发作综合征
EEG
影像学
肌肉病理
mitochondrial encephalopathy
lactic acidosis
and stroke-like episodes syndrome
EEG
imaging
muscle pathological characteristics
