Korean J Med > Volume 88(6); 2015 > Article
내분비-대사
The Korean Journal of Medicine 2015;88(6):706-710.
Published online June 1, 2015.
DOI: https://doi.org/10.3904/kjm.2015.88.6.706   
A Case of MELAS Syndrome Presenting with Type 1 Diabetes Mellitus
Chan-Hyeon Jung1,2, Eun Roh1,2, Chang Ho Ahn1,2, Lee-kyung Kim1,2, Soo Lim1,3, Hak Chul Jang1,3, Sung Hee Choi1,3
1Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea
2Department of Internal Medicine, Seoul National University Hospital, Seoul, Korea
3Department of Internal Medicine, Seoul National University Bundang Hospital, Seongnam, Korea
제1형 당뇨병이 발생하여 진단된 MELAS 증후군 1예
정찬현1,2, 노은1,2, 안창호1,2, 김이경1,2, 임수1,3, 장학철1,3, 최성희1,3
1서울대학교 의과대학 내과학교실
2서울대학교병원 내과
3분당서울대학교병원 내과
Correspondence: 
Sung Hee Choi, Tel: +82-31-787-7033, Fax: +82-31-787-7029, Email: drshchoi@snu.ac.kr
Received: 17 July 2014   • Revised: 18 August 2014   • Accepted: 25 September 2014
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted noncommercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome presents with various clinical features, including seizures, stroke-like episodes, encephalopathy, myopathy, cardiac involvement, and diabetes. However, due to its clinical heterogeneity, the diagnosis of MELAS syndrome is complex and difficult. The present report describes an 18-year-old male who was diagnosed with MELAS syndrome following the onset of type 1 diabetes. The patient had suffered from ataxia, mental retardation, and recurrent headaches for several years; following hospitalization for loss of consciousness, he was treated for cerebellar atrophy and Wolf-Parkinson-White (WPW) syndrome. Although the patient had no history of lactic acidosis, the recent onset of type 1 diabetes and his medical history of encephalopathy and WPW syndrome suggested MELAS syndrome. The diagnosis of MELAS syndrome was confirmed by molecular genetic testing, which revealed a point mutation (A3243G) in the patient’s mitochondrial DNA.
Key Words: MELAS syndrome; Mitochondrial encephalopathy; Wolff-Parkinson-White syndrome; Diabetes mellitus, Type 1
주제어: MELAS 증후군; 미토콘드리아성 뇌병증; Wolff- Parkinson-White 증후군; 제1형 당뇨병


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