Nelson Textbook of Pediatrics 22nd Edition | Leigh syndrome (subacute necrotizing encephalomyelopathy) is the most common pediatric mitochondrial disorder. Infantile onset: developmental regression, hypotonia, ataxia, ophthalmoparesis. MRI: symmetric T2 hyperintensities in basal ganglia (putamen, caudate) and brainstem. Lactic acidosis. Genes: SURF1, PDHA1, NDUFS4, mtDNA (m.8993T>G, m.8344A>G). Treatment: supportive, CoQ10, thiamine, biotin. Avoid valproate.
🌐 paeds.online — Pakistan's Pediatric Platform