Melas syndrome (mitochondrial encephalomyopathy, lactic acidosis and strokes) - presentation of a case report

Abstract

MELAS is a mitochondrial disease presenting with encephalomyopathy, lactic acidosis, and stroke-like episodes. Its onset is in the first two decades, with variable clinical symptoms, most frequently from the nervous system. The clinical and imaging findings in MELAS are topical and do not correspond to a vascular territory, more commonly are in the posterior cranial fossa, may be reversible but often are relapsing and gradually grow adjacent to the present ones over weeks to months, accompanied by epileptic seizures, neurological dysfunction and cortical atrophy. Establishing heteroplasmy of the mutation and multisystem involvement is mandatory for the diagnosis.
In this publication, we present a 33-year-old female (MPS) with a A3243G mutation in the mitochondrial genome with 31.6% heteroplasmy in blood and 74% heteroplasmy in urinary sediment epithelial cells, corresponding to MELAS syndrome. The clinical onset was at the age of 22, and due to a misinterpretation of the MRI findings as a tumor formation, she underwent left temporal resection two years later, without improvement of complaints. The neurological examination was consistant with quadripyramidal, pancerebellar, epileptic and cognitive syndromes, and bilateral sensorineural hearing loss. Symptomatic therapy with Levetiracetam, vitamins and nutraceuticals was administered.