Leigh syndrome responsive to vitamin therapy

We report a case of Leigh syndrome in a girl aged four years and eight months who presented to us with progressive ptosis and worsening ataxia with frequent falls on a background of development delay. The clinical profile, biochemical analysis and MRI findings were consistent with a diagnosis of Leigh syndrome. Her clinical course was that of infantile onset, mild, slowly progressive form. She was given multivitamin supplement aiming to provide high dose thiamine and showed a remarkable response with disappearance of ptosis and marked improvement in function in the speech domain and motor skills.