A Case of MELAS Syndrome Presenting with Type 1 Diabetes Mellitus.
10.3904/kjm.2015.88.6.706
- Author:
Chan Hyeon JUNG
1
;
Eun ROH
;
Chang Ho AHN
;
Lee Kyung KIM
;
Soo LIM
;
Hak Chul JANG
;
Sung Hee CHOI
Author Information
1. Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea. drshchoi@snu.ac.kr
- Publication Type:Case Report
- Keywords:
MELAS syndrome;
Mitochondrial encephalopathy;
Wolff-Parkinson-White syndrome;
Diabetes mellitus, Type 1
- MeSH:
Acidosis, Lactic;
Adolescent;
Ataxia;
Atrophy;
Diabetes Mellitus, Type 1*;
Diagnosis;
DNA, Mitochondrial;
Headache;
Hospitalization;
Humans;
Intellectual Disability;
Male;
MELAS Syndrome*;
Molecular Biology;
Muscular Diseases;
Point Mutation;
Population Characteristics;
Seizures;
Unconsciousness;
Wolff-Parkinson-White Syndrome
- From:Korean Journal of Medicine
2015;88(6):706-710
- CountryRepublic of Korea
- Language:Korean
-
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.
