Korean J Med.  2015 Jun;88(6):706-710. 10.3904/kjm.2015.88.6.706.

A Case of MELAS Syndrome Presenting with Type 1 Diabetes Mellitus

• Jung CH
• Roh E
• Ahn CH
• Kim LK
• Lim S
• Jang HC
• Choi SH

• KMID: 2269086
• DOI: http://doi.org/10.3904/kjm.2015.88.6.706

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.

Keyword

MELAS syndrome; Mitochondrial encephalopathy; Wolff-Parkinson-White syndrome; Diabetes mellitus, Type 1

MeSH Terms

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
DNA, Mitochondrial