J Genet Med.  2019 Jun;16(1):31-38. 10.5734/JGM.2019.16.1.31.

Twenty-one-year follow-up of variable onset MELAS syndrome with heteroplasmic nt3243A>G mtDNA mutation: A case report

• Song WJ
• Lee YJ
• Kang JW
• Chang MY
• Song KS
• Kang DY
• Kim SZ

• KMID: 2451625
• DOI: http://doi.org/10.5734/JGM.2019.16.1.31

Abstract

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.

Keyword

MELAS syndrome; Myasthenia gravis; Lactic acidosis

MeSH Terms

Acidosis, Lactic
Arginine
Carnitine
Consensus
DNA, Mitochondrial*
Early Diagnosis
Early Intervention (Education)
Follow-Up Studies*
Humans
MELAS Syndrome*
Mitochondrial Diseases
Myasthenia Gravis
Population Characteristics
Arginine
Carnitine
DNA, Mitochondrial