Focal hyperperfusion in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes - Case report

A 28-year-old woman presented with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). The diagnosis was based o n the results of molecular genetic analysis, which indicated a typical poin t mutation at the nucleotide pair 3243. Xenon computerized tomography scans obtained during the strokelike episodes revealed the lesion responsible fo r the symptoms to be an area of focal hyperperfusion, and scans obtained af ter the episodes revealed an area of hypoperfusion. Pathogenesis of the str okelike episodes appears to be metabolic dysfunction, although the involvem ent of a vascular event cannot be excluded.