title: Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency.
abstract: 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.
authors.affiliation: II Paediatric Division, Gaslini Institute, Genoa, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Di Rocco
authors.forename: L D
authors.initials: LD
authors.lastname: Lamba
authors.forename: G
authors.initials: G
authors.lastname: Minniti
authors.forename: U
authors.initials: U
authors.lastname: Caruso
authors.forename: E
authors.initials: E
authors.lastname: Naito
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D004305:Dose-Response Relationship, Drug; D005347:Fibroblasts / Q000378:metabolism; D005500:Follow-Up Studies; D006801:Humans; D019344:Lactic Acid / Q000097:blood; D007888:Leigh Disease / Q000175:diagnosis* / Q000188:drug therapy* / Q000201:enzymology; D008297:Male; D011768:Pyruvate Dehydrogenase Complex / Q000032:analysis; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease; D019289:Pyruvic Acid / Q000097:blood; D012074:Remission Induction; D013831:Thiamine / Q000008:administration & dosage / Q000627:therapeutic use*
chemical_list: D011768:Pyruvate Dehydrogenase Complex; D019344:Lactic Acid; D019289:Pyruvic Acid; D013831:Thiamine