{"title":"大剂量类固醇治疗线粒体脑肌病、乳酸酸中毒和卒中样发作(MELAS)患者双侧全视力丧失的疗效","authors":"Seok-Jin Lee, Ji-Hoon Na, Young-Mock Lee","doi":"10.26815/acn.2023.00213","DOIUrl":null,"url":null,"abstract":"Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multi-system disorder mostly caused by mutations in mitochondrial DNA [1]. The pathogenic variant m.3243A>G accounts for more than 80% of cases of MELAS syndrome. The clinical manifestations of MELAS are highly diverse and include seizures, dementia, stroke-like episodes, migraines, depression, sensorineural hearing loss, muscle weakness, cardiomyopathy","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":"107 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Efficacy of High-Dose Steroid Therapy on Bilateral Total Visual Loss in a Patient with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)\",\"authors\":\"Seok-Jin Lee, Ji-Hoon Na, Young-Mock Lee\",\"doi\":\"10.26815/acn.2023.00213\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multi-system disorder mostly caused by mutations in mitochondrial DNA [1]. The pathogenic variant m.3243A>G accounts for more than 80% of cases of MELAS syndrome. The clinical manifestations of MELAS are highly diverse and include seizures, dementia, stroke-like episodes, migraines, depression, sensorineural hearing loss, muscle weakness, cardiomyopathy\",\"PeriodicalId\":33305,\"journal\":{\"name\":\"Annals of Child Neurology\",\"volume\":\"107 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-09-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Child Neurology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.26815/acn.2023.00213\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Child Neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.26815/acn.2023.00213","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Efficacy of High-Dose Steroid Therapy on Bilateral Total Visual Loss in a Patient with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multi-system disorder mostly caused by mutations in mitochondrial DNA [1]. The pathogenic variant m.3243A>G accounts for more than 80% of cases of MELAS syndrome. The clinical manifestations of MELAS are highly diverse and include seizures, dementia, stroke-like episodes, migraines, depression, sensorineural hearing loss, muscle weakness, cardiomyopathy