ISSN: 2165-7548
G O’Connor, C Doherty, J Meaney and G Mc Mahon
The genetic metabolic disorder known as Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke- Like Episodes (MELAS) is characterised by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes and is also associated with epilepsy. Pathogenesis is driven by a chronic state of energy failure, but is poorly understood with at least two hypotheses. The angiopathy (ischaemic) hypothesis suggests the presence of abnormal mitochondria in vascular endothelial cells, while the cytopathy hypothesis is thought to involve neuronal hyperexcitability, resulting in prolonged epileptic seizure activity and vasogenic oedema. We present an acute case of recurrent seizures and severe lactic acidosis precipitated by cocaine use in a patient with MELAS syndrome. The triad of lactic acidosis, seizures, and stroke-like episodes focus on the diagnosis. The neurological complications are probably precipitated by oxidative stress.