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THE MANY FACES OF MELAS
  1. Omar AlMasri1,
  2. Tom Massey1,
  3. Diptarup Mukhopadhyay2,
  4. R Jon Walters1
  1. 1Morriston Hospital
  2. 2Princess of Wales Hospital

Abstract

Mitochondrial encephalomyelitis, lactic acidosis and stroke-like episodes (MELAS) syndrome is the most common of the rare mitochondrial disorders. It frequently is secondary to a point mutation in mitochondrial DNA m.3243 A to G. The main features of the disease include myopathy, encephalopathy, lactic acidosis, stroke-like episodes, seizures and migraine however the clinical presentations can vary widely. Age of onset of the disease has a wide range but patients are typically under 40 years of age, nonetheless cases have been reported in the elderly population. A number of drugs have been used for the management of patients with MELAS including CoEnzyme Q10, Vitamin K-3, Vitamin K-1, Ascorbate and Riboflavin. It is also important to note that seizures in MELAS can be difficult to manage often requiring a combination of antiepileptic drugs. We report the case of a 76-year-old man (the second oldest diagnosed case to the authors' knowledge) whose case exemplifies the complexity of diagnosing and managing these patients including the complications of the disease.

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