제1형 당뇨병이 발생하여 진단된 MELAS 증후군 1예

• Published in: The Korean journal of medicine pp. 706 - 710
• Main Authors: 정찬현, 노은, 안창호, 김이경, 임수, 장학철, 최성희
• Format: Journal Article
• Language: Korean
• Published: 대한내과학회 01.06.2015
• Subjects: 내과학
• ISSN: 1738-9364; 2289-0769
• DOI: 10.3904/kjm.2015.88.6.706

저자들은 정신지체, 발작성 두통, 의식 소실, 소뇌 위축에의한 운동실조 등 여러 신경학적 이상 증상 및 WPW 증후군으로 치료 중이던 환자가 갑자기 발생한 고혈당에 대한 검사 결과 제1형 당뇨병의 임상 양상을 보여 MELAS 증후군을의심하였고, 분자유전학적 검사를 통해 A3243G 사립체 유전자 점 돌연변이를 확인하였기에 이를 보고하는 바이다. 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. KCI Citation Count: 0