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CASE REPORT
Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)
  1. Jasna David1,
  2. Julie Omolola Okiro2,
  3. Kevin Murphy1,
  4. Marwa Elamin1
  1. 1Department of Neurology, Sligo University Hospital, Sligo, Ireland
  2. 2Department of Medicine, Sligo University Hospital, Sligo, Ireland
  1. Correspondence to Dr Julie Omolola Okiro, Julieokiro{at}gmail.com

Summary

A 26-year-old man presented to the emergency department with new-onset generalised tonic–clonic seizures. His clinical picture suggested either autoimmune or infectious encephalitis while his brain imaging raised the possibility of a stroke. A detailed developmental and childhood medical history added suspicion of a mitochondrial defect to the differential. After several molecular genetic analyses, an uncommon mitochondrial mutation was confirmed, unequivocally consistent with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome.

https://doi.org/10.1136/bcr-2016-218133

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    Footnotes

    • Contributors JD contributed in discussion, learning point, references. JOO contributed in summary, background, case presentation, investigations, treatment, outcome and follow up, consent, gathering case data. ME contributed in discussion, background, learning point, differential diagnosis, overview. KM contributed in case title, summary, case presentation, investigations, differential diagnosis treatment, outcome and follow up, overview.

    • Competing interests None declared.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.