Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is one of the most common maternally inherited mitochondrial diseases. However, its pleomorphic clinical manifestations and the fact that the maternal relatives carrying the same mutation may be asymptomatic or only oligosymptomatic makes the diagnosis sometimes elusive.
A man in his 50s presented with a 5-year history of stepwise loss of executive and somatosensory functions in relation to what was interpreted as 2 previous stroke episodes. He had no vascular risk factors apart from mild dyslipidemia.
Marques-Matos C, Reis J, Reis C, Castro L, Carvalho M. Mitochondrial Encephalomyopathy With Lactic Acidosis and Strokelike Episodes Presenting Before 50 Years of AgeWhen a Stroke Is Not Just a Stroke. JAMA Neurol. 2016;73(5):604-606. doi:10.1001/jamaneurol.2015.5061