We report a case of 3 year old male child presented with regressed milestone in form of motor, language and cognition after the age of one year. The initial detail work up including neuroimagings and genetic studies for leukodystrophy, mitochondrial disorders, congenital muscular dystrophy, congenital myopathy, Wilson disease and metabolic disorders were normal. However serial neuroimagings were helpful to reach the diagnosis of mitochondrial disease (leighs disease).
Keywords: Leigh’s disease; 3Tesla MRI; Mitochondrial disease; MR spectroscopy; Basal ganglia. Corresponding Author
: Akhila Kumar Panda