title: Mitochondrial encephalomyopathy with lactic acidosis and stroke (MELAS).
abstract: Mitochondrial disorders are an uncommon, but important, cause of stroke-like clinical and imaging presentations in individuals under the age of 45 years. We present a 31-year-old man with a 4-year history of migraine-like headaches, type 2 diabetes mellitus, seizures, and hearing loss. Magnetic resonance imaging revealed multiple hyperintensities on T2 and fluid-attenuated inversion recovery sequences. An exhaustive work-up for vasculitis including brain biopsy was performed. Mitochondrial DNA testing revealed the A3243G substitution associated with the mitochondrial encephalomyopathy with lactic acidosis and stroke syndrome. In this case review we briefly discuss the signs and symptoms, frequency, pathophysiology, and prognosis of this disorder.
authors.affiliation: Department of Neurology, The David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
authors.forename: Joyce
authors.initials: J
authors.lastname: Matsumoto
authors.forename: Jeffrey L
authors.initials: JL
authors.lastname: Saver
authors.forename: K C
authors.initials: KC
authors.lastname: Brennan
authors.forename: John M
authors.initials: JM
authors.lastname: Ringman
mesh_terms: D000140:Acidosis, Lactic / Q000209:etiology*; D000328:Adult; D006801:Humans; D017241:MELAS Syndrome / Q000150:complications / Q000473:pathology / Q000503:physiopathology; D008297:Male; D020521:Stroke / Q000209:etiology*