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MELAS, an important consideration in the adult population presenting with unusual and recurrent stroke-like episodes

Alison Corr1, Maria Gaughan, Joan Moroney

  • 1Department of Radiology, Beaumont Hospital, Dublin, Ireland.

BMJ Case Reports
|January 30, 2014
PubMed

Insights

A 48-year-old man presented with stroke-like symptoms and seizures, leading to a diagnosis of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). This case highlights MELAS, a rare mitochondrial disorder, in an adult patient.

Area of Science:

  • Neurology
  • Genetics
  • Mitochondrial Diseases

Background:

  • Patient presented with stroke-like symptoms and seizures.
  • Pre-existing conditions included type 2 diabetes mellitus and epilepsy.
  • History of a temporal lobe infarct 3 years prior.

Observation:

  • Unusual clinical presentation.
  • Specific physical examination findings.
  • MRI revealed characteristic abnormalities.

Findings:

  • Diagnosis of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
  • MELAS is a mitochondrial disorder.
  • Typically diagnosed in the first two decades of life.

Implications:

  • This case expands the known age range for MELAS diagnosis.
  • Highlights the importance of considering MELAS in adult-onset neurological presentations.
  • Underscores the need for advanced diagnostic imaging and genetic testing in complex neurological cases.

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