Diagnosis of adult‑onset MELAS with suspected recurrent strokes: A case report

Abstract

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is caused by mutations in mitochondrial DNA and is one of the most common syndromes among the mitochondrial diseases. Clinical manifestations typically occur before the age of 40 years. The present study reports a case of MELAS with a mutation in the adenine to guanine conversion at mitochondrial genome 3243 in a 48-year-old woman who was suspected of suffering from recurrent strokes. Finally, the genomic analysis confirmed the diagnosis of MELAS. This case highlights the importance of considering MELAS as a potential cause of recurrent stroke-like events if imaging findings are atypical for cerebral infarction, even among middle-aged patients with vascular risk factors.

Clinical Approaches for Mitochondrial Diseases

“…Stroke-like episodes are one of the main aspects used to diagnose MELAS [60,61,110], and symptoms of MELAS are commonly considered to begin before the age of 40 [111]. Recent studies have revealed that the disease can develop after the age of 40 in a small number of patients [112], and adult-onset cases of MELAS have also been reported [62,[113][114][115][116]. In cases of late onset of the disease, most patients have low levels of heteroplasmy or significant variations in various tissues.…”