J Korean Endocr Soc.  2008 Dec;23(6):444-449. 10.3803/jkes.2008.23.6.444.

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

• Jeong HS
• Kang JY
• Kim H
• Lee KH
• Lee DS
• Choi GY
• Oh TG
• Jeon HJ

• KMID: 1965999
• DOI: http://doi.org/10.3803/jkes.2008.23.6.444

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.

Keyword

diabetes mellitus; MELAS syndrome; mitochondrial disease

MeSH Terms

Acidosis, Lactic
Central Nervous System
Dementia
Diabetes Mellitus
DNA, Mitochondrial
Eye
MELAS Syndrome
Mitochondrial Diseases
Muscle, Skeletal
Myocardium
Seizures
DNA, Mitochondrial

Figure

• 

  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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