Elderly onset of MELAS carried an M.3243A >G mutation in a female with deafness and visual deficits: A case report

Abstract

Key Clinical MessageMELAS is a disorder with clinical variability that also responsible for a significant portion of unexplained hereditary or childhood‐onset hearing loss. Although patients typically present in childhood, the first stroke‐like episode can occur later in life in some patients, potentially related to a lower heteroplasmy level. It is crucial to consider MELAS as a potential cause of stroke‐like events if age at presentation and symptoms are atypical, especially among middle‐aged patients without vascular risk factors.AbstractMELAS syndrome (mitochondrial encephalopathy with lactic acidosis and stroke‐like episodes) is a rare genetic condition that most patients develop stroke‐like episodes before the age of 40. We report a 52‐year‐old female with a documented 40‐year history of progressive sensorineural hearing loss, developed a visual field deficit and stroke‐like events in her middle age who finally diagnosed was MELAS. The patient was started on vitamin E, l‐carnitine, l‐arginine, and coenzyme Q10 that gradually improved before dismissal from the hospital. This case highlights the importance of considering MELAS as a potential cause of stroke‐like events if imaging findings are atypical for cerebral infarction, especially among middle‐aged patients without vascular risk factors and an unusual cause of progressive sensorineural hearing loss.