Late Onset Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Diagnosed Using Urinary Epithelial Cells
김소현, 손성일, 배효은, 유준상,
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김소현 ( Kim So-Hyeon )
Keimyung University School of Medicine Department of Neurology
손성일 ( Sohn Sung-Il )
Keimyung University School of Medicine Department of Neurology
배효은 ( Bae Hyo-Eun )
Keimyung University School of Medicine Department of Neurology
유준상 ( Yoo Joon-Sang )
Keimyung University School of Medicine Department of Neurology
Abstract
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) together comprise a rare disease of mitochondrial inheritance that usually presents its first symptom before 40 years of age. Here, we report the case of a patient with late onset MELAS, diagnosed using urinary epithelial cells after repetitive negative test results with leukocyte blood samples. A 71-year-old woman visited Dongsan Hospital for aphasia and mild drowsy mentality. Magnetic resonance imaging showed diffusion restriction of the left anterior temporal, parietal, and occipital lobes. We repetitively tested the mitochondrial-encoded gene MTTL1 deoxyribonucleic acid (DNA) sequencing using blood samples and the results were repeatedly negative. In samples with urine epithelial cells, point mutation m.3243A>G was detected. The level of mutant mitochondrial DNA heteroplasmy in the urine sample was 15%. Our case demonstrates the potency of using urinary epithelial cells in mutation detection for diagnosing late onset MELAS.
키워드
MELAS syndrome; Stroke; Magnetic resonance imaging
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