Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency

Eur J Paediatr Neurol. 2000;4(3):115-7. doi: 10.1053/ejpn.2000.0278.


We describe a child with severe psychomotor retardation, peripheral neuropathy and bilateral abnormal signal in basal ganglia on magnetic resonance imaging, consistent with Leigh disease. Fibroblast pyruvate dehydrogenase assayed with routine method was normal. However, because of neurological improvement after treatment with thiamine, pyruvate dehydrogenase activity was studied again with thiamine pyrophosphate concentration adjusted to the normal human tissue level and found to be deficient. We report here on diagnostic difficulties and clinical follow-up of this patient.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Diagnosis, Differential
  • Dose-Response Relationship, Drug
  • Fibroblasts / metabolism
  • Follow-Up Studies
  • Humans
  • Lactic Acid / blood
  • Leigh Disease / diagnosis*
  • Leigh Disease / drug therapy*
  • Leigh Disease / enzymology
  • Male
  • Pyruvate Dehydrogenase Complex / analysis
  • Pyruvate Dehydrogenase Complex Deficiency Disease*
  • Pyruvic Acid / blood
  • Remission Induction
  • Thiamine / administration & dosage
  • Thiamine / therapeutic use*


  • Pyruvate Dehydrogenase Complex
  • Lactic Acid
  • Pyruvic Acid
  • Thiamine