-
Case Report
-
Korean J Med. 2015;88(6):706-710. Published online June 1, 2015.
DOI: https://doi.org/10.3904/kjm.2015.88.6.706
- 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
- 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
- Corresponding author: Sung Hee Choi ,Tel: +82-31-787-7033, Fax: +82-31-787-7029, Email: drshchoi@snu.ac.kr
- Received: July 17, 2014; Revised: August 18, 2014 Accepted: September 25, 2014.
- 저자들은 정신지체, 발작성 두통, 의식 소실, 소뇌 위축에 의한 운동실조 등 여러 신경학적 이상 증상 및 WPW 증후군으로 치료 중이던 환자가 갑자기 발생한 고혈당에 대한 검사 결과 제1형 당뇨병의 임상 양상을 보여 MELAS 증후군을 의심하였고, 분자유전학적 검사를 통해 A3243G 사립체 유전자 점 돌연변이를 확인하였기에 이를 보고하는 바이다.
߽ɾ :MELAS 증후군; 미토콘드리아성 뇌병증; Wolff- Parkinson-White 증후군; 제1형 당뇨병
- 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.
Keywords :MELAS syndrome, Mitochondrial encephalopathy, Wolff-Parkinson-White syndrome, Diabetes mellitus, Type 1
