MELAS Syndrome

MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a maternally inherited mitochondrial disorder. Clinical manifestations include recurrent stroke-like episodes, seizures, lactic acidosis, hearing loss, and progressive cognitive decline. Pathophysiology involves mitochondrial DNA mutations leading to defective oxidative phosphorylation. Diagnosis is based on clinical features, metabolic studies, neuroimaging, and genetic testing. Management is supportive, with arginine therapy for stroke-like episodes, seizure control, and metabolic optimization; prognosis is variable, with progressive multisystem involvement.