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KMID : 1189120190160010031
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대한의학유전학회지
2019 Volume.16 No. 1 p.31 ~ p.38
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Twenty-one-year follow-up of variable onset MELAS syndrome with heteroplasmic nt3243A>G mtDNA mutation: A case report
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Song Wung-Joo
Lee Yoon-Jin
Kang Joon-Won
Chang Mea-Young
Song Kyu-Sang
Kang Dae-Young
Kim Sook-Za
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Abstract
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Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder of which m.3243A>G is the most commonly associated mutation, resulting in an inability to meet the energy requirements of various organs. MELAS poses a diagnostic challenge owing to its multiple organ involvement and great clinical variability due to its heteroplasmic nature. We report three cases from a family who were initially misdiagnosed with myasthenia gravis or undiagnosed. Although there is no optimal consensus treatment approach for patients with MELAS because of the disease’s heterogeneity, our 21-year-long therapy regimen of L-arginine, L-carnitine, and coenzyme Q10 supplementation combined with dietary management appeared to provide noticeable protection from the symptoms and complications. Prompt early diagnosis is important, as optimal multidisciplinary management and early intervention may improve outcomes.
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KEYWORD
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MELAS syndrome, Myasthenia gravis, Lactic acidosis
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