title: Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).
abstract: 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.
authors.affiliation: Department of Neurology, Sligo University Hospital, Sligo, Ireland.
authors.forename: Jasna
authors.initials: J
authors.lastname: David
authors.affiliation: Department of Medicine, Sligo University Hospital, Sligo, Ireland.
authors.forename: Julie Omolola
authors.initials: JO
authors.lastname: Okiro
authors.affiliation: Department of Neurology, Sligo University Hospital, Sligo, Ireland.
authors.forename: Kevin
authors.initials: K
authors.lastname: Murphy
authors.affiliation: Department of Neurology, Sligo University Hospital, Sligo, Ireland.
authors.forename: Marwa
authors.initials: M
authors.lastname: Elamin
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial; D042967:Electron Transport Complex I / Q000235:genetics*; D006801:Humans; D017241:MELAS Syndrome / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation
chemical_list: D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; C481838:MT-ND5 protein, human; D042967:Electron Transport Complex I