A Rare Mitochondrial Disorder: Leigh Syndrome – A Case Report

Leigh syndrome is a rare, progressive neurodegenerative disorder of mitochondrial origin that predominantly affects infants and young children. Only a limited number of cases have been reported from India. The disease exhibits marked clinical heterogeneity but typically presents with developmental delay, neuroregression, and signs of brainstem and/or basal ganglia dysfunction. Elevated lactate levels in blood and/or cerebrospinal fluid reflect impaired oxidative phosphorylation, while characteristic neuroimaging findings are crucial for diagnosis.