目的提高临床医师对线粒体脑肌病伴高乳酸血症和卒中样发作综合征(mitochondrial encephalomyopathy with lactic academia and stroke-like episodes,MELAS)的认识,以早期诊断及治疗,改善患者预后。方法结合MELAS既往的文献报道,总结ME...目的提高临床医师对线粒体脑肌病伴高乳酸血症和卒中样发作综合征(mitochondrial encephalomyopathy with lactic academia and stroke-like episodes,MELAS)的认识,以早期诊断及治疗,改善患者预后。方法结合MELAS既往的文献报道,总结MELAS患者的临床表现、实验室及影像学检查、病理特点、基因检测、诊断标准及鉴别诊断、治疗与预后情况。结果MELAS患者主要表现为运动不耐受、卒中样发作、癫痫、失明、眼外肌瘫痪、听力下降、癫痫,肌酸激酶正常或者增高,运动后血乳酸增高。肌肉活检见破碎红纤维(RRF)和SDH染色肌间小血管强染(SSV),ATP酶染色可见肌纤维呈棋盘格样分布,HE染色可见边缘嗜碱性肌纤维。头MRI表现皮层卒中样改变、脑萎缩。结论 MELAS患者主要以脑和肌肉受累为主要临床表现,RRF、SSV、肌纤维呈棋盘格样分布、嗜碱性肌纤维为肌肉活检的主要特点。展开更多
Mitochondrial disorders are phenotypically varied, with serious clinical repercussions. Among them, there is the deficiency of combined oxidative phosphorylation of type 20, which occurs due to a defect in the VARS2 g...Mitochondrial disorders are phenotypically varied, with serious clinical repercussions. Among them, there is the deficiency of combined oxidative phosphorylation of type 20, which occurs due to a defect in the VARS2 gene. This article presents a case of a 2-year-old female with progressive myoclonic epilepsy and psychomotor regression, with refractoriness to multiple anticonvulsants. The diagnosis was only made after the examination was carried out. Therefore, this article highlights the aspects of this rare disease and the importance of the exome for the diagnosis of rare conditions.展开更多
To the Editor:Mutations in mitochondrial DNA(mtDNA)cause mitochondrial diseases with multisystem involvement and variable clinical phenotypes.Myoclonic epilepsy with ragged red fiber(MERRF)syndrome is characterized by...To the Editor:Mutations in mitochondrial DNA(mtDNA)cause mitochondrial diseases with multisystem involvement and variable clinical phenotypes.Myoclonic epilepsy with ragged red fiber(MERRF)syndrome is characterized by myoclonus,generalized epilepsy,cerebellar ataxia,and mitochondrial myopathy with ragged red fibers(RRFs).Other features include hearing impairment,psychiatric disorders,and dysarthria.展开更多
目的:提高对线粒体脑肌病伴高乳酸血症和卒中样发作(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode,MELAS)综合征的临床认识水平。方法:报道1例MELAS综合征患者的诊疗经过,结合文献复习,重点讨论MELA...目的:提高对线粒体脑肌病伴高乳酸血症和卒中样发作(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode,MELAS)综合征的临床认识水平。方法:报道1例MELAS综合征患者的诊疗经过,结合文献复习,重点讨论MELAS综合征的临床表现和诊疗思路。结果:1例MELAS综合征患者以卒中样发作为首发表现,继而出现癫痫样发作,脑脊液和血清相关抗体检测均为阴性。线粒体疾病基因检测结果提示为m.3243A>G。最终诊断为MELAS综合征。结论:MELAS综合征是线粒体脑肌病中最常见的一种类型,可以累及以脑和肌组织为主的全身多个系统,其临床表现多样,缺乏统一的诊断标准而易于漏诊和误诊,且缺乏有效的治疗方法,预后不良。因此,早期识别MELAS综合征尤为重要,以期做到早诊断和早治疗,改善患者预后。展开更多
目的探讨1例线粒体和过氧化物酶体裂变缺陷致脑病1型(encephalopathy due to defective mitochondrial and peroxisomal fission-1,EMPF1)患儿的临床特征及其致病基因突变。方法回顾分析2020年8月中南大学湘雅医学院附属海口医院儿科收...目的探讨1例线粒体和过氧化物酶体裂变缺陷致脑病1型(encephalopathy due to defective mitochondrial and peroxisomal fission-1,EMPF1)患儿的临床特征及其致病基因突变。方法回顾分析2020年8月中南大学湘雅医学院附属海口医院儿科收治的1例EMPF1患儿的临床资料及基因检测结果。结果女性患儿,8岁,主要临床特征为发育倒退,小头畸形,肌张力低下,难治性癫痫,头颅MRI提示脑萎缩,右侧颞枕顶叶皮层信号异常,动态脑电图提示:右半球尖慢波放电。全外显子家系基因检测提示患儿DNM1L基因存在c.1040C>G位点的新发杂合错义变异,经一代测序验证结果显示,其父母该位点未发现变异,为符合常染色体显性遗传的新发变异;经生物信息分析推测该变异为致病变异。门诊随访2年,经线粒体鸡尾酒疗法、抗癫痫药治疗后,患儿病情稳定,近1年来已无癫痫发作,精神状态、吞咽功能好转,可经口喂养,偶有恶心、呕吐。结论EMPF1主要的临床表现为精神运动发育迟缓或倒退、肌张力障碍、肢体瘫痪、癫痫等,综合临床表型及基因检测结果可实现对该病的早诊断。展开更多
文摘目的提高临床医师对线粒体脑肌病伴高乳酸血症和卒中样发作综合征(mitochondrial encephalomyopathy with lactic academia and stroke-like episodes,MELAS)的认识,以早期诊断及治疗,改善患者预后。方法结合MELAS既往的文献报道,总结MELAS患者的临床表现、实验室及影像学检查、病理特点、基因检测、诊断标准及鉴别诊断、治疗与预后情况。结果MELAS患者主要表现为运动不耐受、卒中样发作、癫痫、失明、眼外肌瘫痪、听力下降、癫痫,肌酸激酶正常或者增高,运动后血乳酸增高。肌肉活检见破碎红纤维(RRF)和SDH染色肌间小血管强染(SSV),ATP酶染色可见肌纤维呈棋盘格样分布,HE染色可见边缘嗜碱性肌纤维。头MRI表现皮层卒中样改变、脑萎缩。结论 MELAS患者主要以脑和肌肉受累为主要临床表现,RRF、SSV、肌纤维呈棋盘格样分布、嗜碱性肌纤维为肌肉活检的主要特点。
文摘Mitochondrial disorders are phenotypically varied, with serious clinical repercussions. Among them, there is the deficiency of combined oxidative phosphorylation of type 20, which occurs due to a defect in the VARS2 gene. This article presents a case of a 2-year-old female with progressive myoclonic epilepsy and psychomotor regression, with refractoriness to multiple anticonvulsants. The diagnosis was only made after the examination was carried out. Therefore, this article highlights the aspects of this rare disease and the importance of the exome for the diagnosis of rare conditions.
文摘To the Editor:Mutations in mitochondrial DNA(mtDNA)cause mitochondrial diseases with multisystem involvement and variable clinical phenotypes.Myoclonic epilepsy with ragged red fiber(MERRF)syndrome is characterized by myoclonus,generalized epilepsy,cerebellar ataxia,and mitochondrial myopathy with ragged red fibers(RRFs).Other features include hearing impairment,psychiatric disorders,and dysarthria.
文摘目的:提高对线粒体脑肌病伴高乳酸血症和卒中样发作(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode,MELAS)综合征的临床认识水平。方法:报道1例MELAS综合征患者的诊疗经过,结合文献复习,重点讨论MELAS综合征的临床表现和诊疗思路。结果:1例MELAS综合征患者以卒中样发作为首发表现,继而出现癫痫样发作,脑脊液和血清相关抗体检测均为阴性。线粒体疾病基因检测结果提示为m.3243A>G。最终诊断为MELAS综合征。结论:MELAS综合征是线粒体脑肌病中最常见的一种类型,可以累及以脑和肌组织为主的全身多个系统,其临床表现多样,缺乏统一的诊断标准而易于漏诊和误诊,且缺乏有效的治疗方法,预后不良。因此,早期识别MELAS综合征尤为重要,以期做到早诊断和早治疗,改善患者预后。
文摘目的探讨1例线粒体和过氧化物酶体裂变缺陷致脑病1型(encephalopathy due to defective mitochondrial and peroxisomal fission-1,EMPF1)患儿的临床特征及其致病基因突变。方法回顾分析2020年8月中南大学湘雅医学院附属海口医院儿科收治的1例EMPF1患儿的临床资料及基因检测结果。结果女性患儿,8岁,主要临床特征为发育倒退,小头畸形,肌张力低下,难治性癫痫,头颅MRI提示脑萎缩,右侧颞枕顶叶皮层信号异常,动态脑电图提示:右半球尖慢波放电。全外显子家系基因检测提示患儿DNM1L基因存在c.1040C>G位点的新发杂合错义变异,经一代测序验证结果显示,其父母该位点未发现变异,为符合常染色体显性遗传的新发变异;经生物信息分析推测该变异为致病变异。门诊随访2年,经线粒体鸡尾酒疗法、抗癫痫药治疗后,患儿病情稳定,近1年来已无癫痫发作,精神状态、吞咽功能好转,可经口喂养,偶有恶心、呕吐。结论EMPF1主要的临床表现为精神运动发育迟缓或倒退、肌张力障碍、肢体瘫痪、癫痫等,综合临床表型及基因检测结果可实现对该病的早诊断。
