{Reference Type}: Case Reports
{Title}: Elderly onset of MELAS carried an M.3243A >G mutation in a female with deafness and visual deficits: A case report.
{Author}: Zijun L;Xu Y;Yujia Y;Zhiqiang X;
{Journal}: Clin Case Rep
{Volume}: 12
{Issue}: 3
{Year}: 2024 Mar
暂无{DOI}: 10.1002/ccr3.8438
{Abstract}: <B>UNASSIGNED: </B>MELAS 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.<BR><B>UNASSIGNED: </B>MELAS 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.