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Subacute necrotizing encephalomyelopathy (SNE) or Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder typically manifesting in the pediatric age group with variable clinical presentation and genetic heterogeneity. Late-onset varieties are extremely rare and only few cases have been reported globally. Neuroimaging however shows characteristic symmetrical necrotic lesions in the basal ganglia and/or brainstem. We report cases of two siblings who had history of seizures, but presented to us in adulthood. They had similar clinical presentation and radiological features on magnetic resonance imaging (MRI) and were subsequently diagnosed with SNE primarily based on imaging.

Adult Presentation of Subacute Necrotizing Encephalomyelopathy in Two Siblings