European Journal of Case Reports in Internal Medicine (Jan 2024)

Gastrointestinal complications of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome managed by parenteral nutrition

  • Simona Horná,
  • Martin Jozef Péč,
  • Juraj Krivuš,
  • Renáta Michalová,
  • Štefan Sivák,
  • Peter Galajda,
  • Marián Mokáň

DOI
https://doi.org/10.12890/2024_004268

Abstract

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MELAS – an acronym for mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes – is a multiorgan disease caused by a mutation in mitochondrial DNA (mtDNA). Its clinical manifestations are highly variable; mainly stroke-like episodes, seizures, recurrent headaches, or muscle weakness. However, gastrointestinal complications such as chronic intestinal pseudo-obstruction (IPO), pancreatitis, gastroparesis and hepatopathy are also common. In this report we describe a young patient with gastrointestinal complication of MELAS which led to superior mesenteric artery syndrome (SMAS). It is rare but not surprising combination and should be considered in cases with significant weight loss and resistance to symptomatic treatment. The optimal energy support is the main pillar of the treatment.

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