H. Jeong, Ji-young Kang, Hyun Kim, Kyu-Ho Lee, Dal-Sic Lee, G. Choi, Tae Geun Oh, Hyen Jeong Jeon
{"title":"A Case of MELAS Syndrome Manifested by Insulin-deficient Diabetes Mellitus","authors":"H. Jeong, Ji-young Kang, Hyun Kim, Kyu-Ho Lee, Dal-Sic Lee, G. Choi, Tae Geun Oh, Hyen Jeong Jeon","doi":"10.3803/JKES.2008.23.6.444","DOIUrl":null,"url":null,"abstract":"MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) syndrome is characterized by stroke-like episodes before the age of 40, encephalopathy, seizures, dementia and lactic acidosis, and is caused by mutations in mitochondrial DNA. Diabetes mellitus and cardiac involvement are also frequently seen in MELAS syndrome. It is a classic mitochondrial disorder that shows a slow, chronic, progressive course, and presents with multiple organ involvement including the central nervous system, skeletal muscle, eye, cardiac muscle and gastrointestinal system. Here, we report a case of 33 year-old woman with insulin-deficient diabetes mellitus and sensorineural hearing loss experiencing repeated stroke-like episodes. MELAS syndrome with an A3243G point mutation was confirmed by mitochondrial DNA sequencing analysis. (J Korean Endocr Soc 23:444~449, 2008) ꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏ","PeriodicalId":119859,"journal":{"name":"Journal of Korean Endocrine Society","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Korean Endocrine Society","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3803/JKES.2008.23.6.444","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 2
Abstract
MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) syndrome is characterized by stroke-like episodes before the age of 40, encephalopathy, seizures, dementia and lactic acidosis, and is caused by mutations in mitochondrial DNA. Diabetes mellitus and cardiac involvement are also frequently seen in MELAS syndrome. It is a classic mitochondrial disorder that shows a slow, chronic, progressive course, and presents with multiple organ involvement including the central nervous system, skeletal muscle, eye, cardiac muscle and gastrointestinal system. Here, we report a case of 33 year-old woman with insulin-deficient diabetes mellitus and sensorineural hearing loss experiencing repeated stroke-like episodes. MELAS syndrome with an A3243G point mutation was confirmed by mitochondrial DNA sequencing analysis. (J Korean Endocr Soc 23:444~449, 2008) ꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏ