Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke like Episodes: A Masquerader of Young-onset Stroke

Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes, also known as MELAS, is an uncommon genetic disorder of mitochondrial inheritance. It presents as variable neurological and systemic manifestations. Here, we present a case of a young male who was a known case of seizure disorder and multiple neurological deficits. His clinical presentation included progressive hearing loss, diminution of vision, and recurrent headaches with vomiting. Neurological examination showed asymmetric limb weakness. Young-onset stroke was evaluated, and a magnetic resonance imaging (MRI) scan showed bilateral parieto-occipital hyperintensities. Serum lactate levels were high, which increased the suspicion of MELAS. m.3243A>G mutation was detected in mitochondrial DNA, confirming the diagnosis. Treatment involved the adjustment of antiepileptic therapy and the initiation of mitochondrial supplements. Our case emphasizes the heterogeneous clinical presentation and diagnostic challenges of MELAS as an important cause of young-onset stroke, highlighting the importance of early suspicion and confirmatory investigations for personalized management strategies to optimize patient outcomes.