17例MELAS综合征患者的临床及头部MRI特点分析  

Clinical and craniocerebral MRI characteristics of 17 patients with MELAS syndrome

作　　者：周洁 汪昌 欧梦迪 余亚运 喻绪恩[1,2] ZHOU Jie;WANG Chang;OU Mengdi(Anhui University of Traditional Chinese Medicine,Hefei 230038,China)

机构地区：[1]安徽中医药大学,安徽合肥230038 [2]安徽中医药大学神经病学研究所附属医院神经内科,安徽合肥230061

出　　处：《中风与神经疾病杂志》2022年第6期510-513,共4页Journal of Apoplexy and Nervous Diseases

基　　金：安徽省高校自然科学研究重点项目(KJ2021A0550)。

摘　　要：目的探讨线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)综合征的临床及头部MRI特点,以提高临床对MELAS综合征头部MRI特异表现的认识。方法回顾性统计安徽中医药大学神经病学研究所附属医院从2011年2月-2020年9月经基因检测或肌肉病理确诊的17例MELAS综合征患者的临床及头部MRI资料,分析其特点。结果17例MELAS综合征患者中男7例,女10例,癫痫(6/17)及头痛(4/17)为主要首发症状,临床表现主要为头痛、癫痫、视力障碍。头部MRI的主要特点为大脑半球皮质区异常信号,病灶主要位于颞叶、顶叶和枕叶,单纯累及一个脑叶有3例,仅累及基底节区有1例,同时累及多个脑叶有13例,6例患者有大脑和(或)小脑萎缩。损伤异常信号为病灶部位呈长T_(1)、长T_(2)信号,DWI和FLAIR序列高信号,MRS可见异常的乳酸峰(Lac峰)。结论MELAS综合征临床表现复杂多样,对于头部MRI提示颞叶、顶叶、枕叶异常信号并伴有头痛、癫痫等症状的患者要高度怀疑MELAS综合征的可能,建议做进一步肌肉病理检查和基因检测。Objective To explore the clinical characteristics and cerebral MRI characteristics of mitochondrial encephalomyopathy with hyperlactic acidemia and stroke-like episodes(MELAS)syndrome and to improve the clinical doctors understanding of the specific manifestations of cerebral MRI in MELAS syndrome.Methods The clinical features and cerebral MRI data of 17 patients with MELAS syndrome diagnosed by gene test or muscle pathology in our hospital from February 2011 to September 2020 were retrospectively analyzed.Results Among the 17 patients with MELAS syndrome,there were 7 males and 10 females.Epilepsy(6/17)and headache(4/17)were the main initial symptoms,and the main clinical manifestations were headache,epilepsy and visual impairment.The main characteristic of cranial MRI is abnormal signal in cerebral hemispheric cortical region.And the lesions were mainly located in the temporal lobe,parietal lobe and occipital lobe.There were 3 cases of single lobe involvement,only 1 case of basal ganglia involvement,and 13 cases of multiple lobe involvement,and 6 patients had cerebral and/or cerebellar atrophy.Abnormal signals of injury included long T_(1) and long T_(2) signals at the lesion site,high signal in DWI and FLAIR sequence,and abnormal lactic acid peak(Lac peak)on MRS.Conclusion The clinical manifestations of MELAS syndrome are complex.For patients with craniocerebral MRI indicating abnormal signals of temporal lobe,parietal lobe and occipital lobe with headache,epilepsy and other symptoms,the possibility of MELAS syndrome should be highly suspected.Further muscle pathological examination and gene detection are recommended.

关 键 词：MELAS综合征 临床表现 头部MRI特点 

分 类 号：R742[医药卫生—神经病学与精神病学]