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

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.

Patent foramen ovale leading to mismanagement in a mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) patient

“…Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is the most common maternally-inherited mitochondrial disorder, which usually becomes symptomatic before the age of 40 years 8 . MELAS is characterized by stroke-like episodes, seizures, dementia, encephalopathy, lactic acidosis and also RRFs on muscle biopsy 9 .…”

Patent foramen ovale leading to mismanagement in a mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes patient

“…3 MELAS was first introduced in 1984, 4 which typically presents with stroke-like episodes, seizures, short stature, encephalopathy, muscle weakness, nausea, vomiting, headaches, diabetes mellitus, exercise intolerance, sensorineural hearing loss, myopathy, lactic acidosis, and RRFs on muscle biopsy. [4][5][6][7][8] Magnetic Resonance Imaging (MRI), in a company with muscle biopsy and genetic studies, is now the foundation of diagnosis in MELAS cases. 9 In this case report, we will review the presentation of symptoms, diagnosis challenges and follow-ups in a patient affected with MELAS.…”