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Abdominal pain and vomiting as first sign of mitochondrial disease

S Van Biervliet1, P Verloo, S Vande Veldel

  • 1Pediatric Gastroenterology, Ghent University hospital, Ghent, Belgium. stephanie.vanbiervliet@ugent.be

Acta Gastro-Enterologica Belgica
|November 12, 2009
PubMed

Insights

Mitochondrial Myopathy Encephalopathy, Lactic Acidosis with Stroke-like episodes (MELAS) can initially present with gastrointestinal issues like abdominal pain and vomiting. This case highlights the importance of considering metabolic disorders even when symptoms seem unrelated to typical neurological or muscular presentations.

Area of Science:

  • Neurology
  • Genetics
  • Gastroenterology

Background:

  • Mitochondrial disorders, such as MELAS, often manifest with neurological or myopathic symptoms.
  • Visceral symptoms are common in mitochondrial diseases but rarely the primary presenting feature.

Observation:

  • A patient presented with abdominal pain and vomiting, initially misdiagnosed as gastro-oesophageal reflux.
  • Detailed clinical history revealed the possibility of an underlying metabolic defect.

Findings:

  • The patient was diagnosed with Mitochondrial Myopathy Encephalopathy, Lactic Acidosis with Stroke-like episodes (MELAS) syndrome.
  • The molecular defect underlying the condition was identified.

Implications:

  • This case underscores the need to consider rare metabolic disorders in patients with atypical gastrointestinal presentations.
  • Early suspicion and investigation of MELAS can lead to timely diagnosis and management.
  • Recognizing diverse clinical presentations of MELAS is crucial for accurate diagnosis.

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