Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).

Jasna David, Julie Omolola Okiro, Kevin Murphy, Marwa Elamin

BMJ case reports 2017 Feb 27

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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. 2017 BMJ Publishing Group Ltd.

Citation

Jasna David, Julie Omolola Okiro, Kevin Murphy, Marwa Elamin. Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). BMJ case reports. 2017 Feb 27;2017