Journal List > J Korean Endocr Soc > v.23(6) > 1003473

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Jeong, Kang, Kim, Lee, Lee, Choi, Oh, and Jeon: A Case of MELAS Syndrome Manifested by Insulin-deficient Diabetes Mellitus
Case Report
Journal of Korean Endocrine Society

Journal of Korean Endocrine Society 2008; 23(6): 444-449.

Published online: 31 December 2008

DOI: https://doi.org/10.3803/jkes.2008.23.6.444

A Case of MELAS Syndrome Manifested by Insulin-deficient Diabetes Mellitus

Hee Seog Jeong, Ji Young Kang, Hyun Kim, Kyu Ho Lee, Dal Sic Lee, Guan Yong Choi, Tae Geun Oh, Hyen Jeong Jeon

Department of Internal Medicine, Chungbuk National University College of Medicine, Korea.

Received 1 July 2008       Accepted 13 October 2008

Copyright © 2008 Korean Endocrine Society

Abstract

MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) syndrome is characterized by stroke-like episodes before the age of 40, encephalopathy, seizures, dementia and lactic acidosis, and is caused by mutations in mitochondrial DNA. Diabetes mellitus and cardiac involvement are also frequently seen in MELAS syndrome. It is a classic mitochondrial disorder that shows a slow, chronic, progressive course, and presents with multiple organ involvement including the central nervous system, skeletal muscle, eye, cardiac muscle and gastrointestinal system.
Here, we report a case of 33 year-old woman with insulin-deficient diabetes mellitus and sensorineural hearing loss experiencing repeated stroke-like episodes. MELAS syndrome with an A3243G point mutation was confirmed by mitochondrial DNA sequencing analysis.

Keywords: diabetes mellitus, MELAS syndrome, mitochondrial disease

Figures and Tables

Fig. 1
Brain MRI shows diffuse cerebral atrophy and non-enhancing high signal intensity in both caudate nucleus, putamen, globus pallidus and hypothalamus.
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Fig. 2
A. Direct sequencing of mitochondrial DNA demonstrates a heteroplasmic A to G transition at nucleotide 3243 in the mitochondrial gene MTTL1 encoding tRNALeu(UUR). B. Direct sequencing of the mitochondrial gene MTTL1 encoding tRNALeu(UUR) demonstrates a heteroplasmic A to G transition at nucleotide 3243 in the patient. Her mother has wild type sequence suggesting a somatic mosaicism.
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Table 1
Korean cases of MELAS syndrome; associated symptoms, signs and diabetes mellitus
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