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KMID : 0882420150880060706
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Korean Journal of Medicine
2015 Volume.88 No. 6 p.706 ~ p.710
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A Case of MELAS Syndrome Presenting with Type 1 Diabetes Mellitus
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Jung Chan-Hyeon
Roh Eun
Ahn Chang-Ho
Kim Lee-Kyung
Lim Soo
Jang Hak-Chul
Choi Sung-Hee
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Abstract
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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.
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KEYWORD
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MELAS syndrome, Mitochondrial encephalopathy, Wolff-Parkinson-White syndrome, Diabetes mellitus, Type 1
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