摘要
目的总结晚发型线粒体脑肌病伴乳酸酸中毒和卒中样发作(MELAS)患者的临床、影像学、肌肉病理和基因突变特点。方法新乡医学院附属焦作市人民医院神内科自1997年1月至2021年12月收治3例晚发型MELAS患者,均采用基因二代测序技术对患者进行线粒体DNA(mtDNA)和核DNA(nDNA)突变筛查。回顾性分析患者的临床、影像学、肌肉病理和基因突变特点。结果3例患者的临床表现主要包括卒中样发作、头痛、听力下降、偏盲、认知功能减退和精神异常等。3例患者双上肢肌张力、肌力均正常。2例患者双下肢肌张力增高、腱反射活跃、病理征阳性。MRI检查显示3例患者颞枕顶叶皮质及皮质下长T1、长T2异常信号,CT扫描显示1例患者双侧苍白球钙化。肌肉病理染色显示3例患者有破碎红纤维(RRF)和破碎蓝纤维(RBF),2例患者有细胞色素C氧化酶(COX)阴性肌纤维。基因检测结果显示3例患者MT-TL1基因m.3243A>G点突变,其中2例患者血液中突变比例分别为15%、17%,1例患者肌肉组织中突变比例为73%。结论晚发型MELAS患者肌肉病理染色可发现较高比例的RRF。m.3243A>G点突变是晚发型MELAS最常见的突变类型,其在肌肉组织中的突变比例明显高于血液。
Objective To summarize the clinical,imaging,muscle pathological and gene mutational features of patients with late-onset mitochondrial encephalomyopathy,lactic acidosis,and stroke-like episodes(MELAS).Methods Three patients with late-onset MELAS,admitted to Department of Neurology,Jiaozuo People's Hospital Affiliated of Xinxiang Medical University from January 1997 to December 2021 were chosen;all patients were screened for mitochondrial DNA(mtDNA)and nuclear DNA(nDNA)mutations by second-generation gene sequencing.The clinical,imaging,muscle pathological and gene mutational features of patients with late-onset MELAS were analyzed retrospectively.Results The main clinical manifestations of these late-onset MELAS patients included stroke-like attacks,headache,hearing and vision loss,cognitive decline and mental disorder.The muscle tension and muscle strength of both upper extremities in these 3 patients were normal.Increased muscle tension and active tendon reflexes,and positive pathological signs in both lower extremities were noted in 2 patients.Head MRI showed abnormal long T1 and long T2 signals in temporal occipital parietal cortex and subcortex in 3 patients,and CT showed calcification in bilateral globus pallidus in 1 patient.Ragged red fibers(RRF)and ragged blue fibers(RBF)were found in the muscle biopsies of 3 patients,and cytochrome oxidase(COX)-negative muscle fibers were found in 2 patients.MT-TL1 gene m.3243A>G mutation was detected in all 3 patients by genetic testing,among which mutation in the blood of 2 patients was 15%and 17%,respectively,and mutation in the muscle tissues of 1 patient was 73%.Conclusion Muscle pathology indicates high RRF percentage in patients with late-onset MELAS;and m.3243A>G spot mutation is the most common mutation type in late-onset MELAS,and m.3243A>G mutation ratio in muscle tissues is obviously higher than that in blood.
作者
赵炯博
瞿千千
崔文豪
马晓丽
卢燕婉
李诗瑶
吕海东
Zhao Jiongbo;Qu Qianqian;Cui Wenhao;Ma Xiaoli;Lu Yanwan;Li Shiyao;Lyu Haidong(Department of Neurology,Jiaozuo People's Hospital Affiliated of Xinxiang Medical University,Jiaozuo 454002,China)
出处
《中华神经医学杂志》
CAS
CSCD
北大核心
2023年第4期361-367,共7页
Chinese Journal of Neuromedicine
基金
河南省医学科技攻关计划项目(LHGJ20191340)。
关键词
线粒体脑肌病伴乳酸酸中毒和卒中样发作
晚发型
线粒体DNA
肌肉病理
基因突变
Mitochondrial encephalomyopathy,lactic acidosis,and stroke-like episodes
Late-onset syndrome
Mitochondrial DNA
Muscle pathology
Gene mutation
作者简介
通信作者:吕海东,Email:hnlhd666@163.com。
