Pseudo-infarto cerebral como primera manifestación de un MELAS tardío

Abstract

MELAS is an acronym for the convergence of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes. It was described by Pavlakis et al. in 1984.This is a genetic disease caused by mutations in the maternal mitochondrial genome, affecting the adenosine triphosphate (ATP) synthesis. The mutations have heteroplasmic loads on different tissues, which could specially involve those highly energy-dependent such as muscles, brain and CNS tissues. We describe a 33 year old female presenting migraine headaches associated to stroke-like episodes, related to an infection. Neurological manifestations include language and visual disturbances. The magnetic resonance imaging (MRI) showed low-intensity areas, predominantly in the temporal, parietal and occipital left lobes. She further presented a status epilepticus. The complementary study shows elevated basal and post exercise lactic acidosis, ragged red fibers in the muscle biopsy, and the mutation of A3243G in the mitochondrial genome. Her asymptomatic mother and sister showed ragged red fibers in muscle biopsy. The patient showed clinical and radiological features improvement, maintaining non epileptic slow focal occipital discharges in the electroencephalogram. The assumption is that this mitochondrial disorder could be more frequent than detected in our medium, given that a significant number of women could be just asymptomatic bearers (like the patient's mother and sister). This pathology should always be assessed in patients less than 40 years of age with strokes, regardless whether they have family history with the disease.