Stroke-like episodes in mitochondrial encephalomyopathy with lactic acidosis

Abstract

We described two patients (female, 47 years and male, 42 years)with mitochondrial encephalomyopathy, lactic acidosis andstroke-like episodes (MELAS). Diagnosis was confirmed bygenetic study (A3243G mitochondrial DNA mutation wasfound), muscle biopsy and elevated lactate level in the blood.Clinical picture of stroke-like episodes was presented by symptomsof mainly involvement of the posterior brain area (fluentand amnestic aphasia, hemianopia, paresis, ataxia), as well as byheadache and epileptic seizures. In the first patient stroke-likeepisodes recurred but their symptoms almost completelyregressed with time. The second patient had severe residualneurological deficit. Other clinical manifestations includedhearing loss, memory deterioration, cardiomyopathy, fatigueand type 1 diabetes mellitus. MRI in acute period of stroke-likeepisodes found cortical lesions mainly in the posterior parts ofthe brain. They completely disappeared in the first case, butpersisted in the second patient. The differential diagnosis ofstroke-like episodes and ischemic stroke and approaches totreatment are discussed.

Keywords

• mitochondrial encephalomyopathy
• stroke-like episodes
• melas
• ischemic stroke in young adults