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Pearls & Oy-sters: Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency.
de Gusmao, Claudio M; Peixoto de Barcelos, Isabella; Pinto, Anna L R; Silveira-Moriyama, Laura.
Affiliation
  • de Gusmao CM; From the Department of Neurology (C.M.d.G., A.L.R.P.), Boston Children's Hospital, Harvard Medical School, MA; Neurology Department (C.M.d.G., L.S-M.), HC-FCM, University of Campinas, UNICAMP, Campinas, São Paulo, Brazil; Department of Neurology (I.P.d.B.), Children's Hospital of Philadelphia, PA; a
  • Peixoto de Barcelos I; From the Department of Neurology (C.M.d.G., A.L.R.P.), Boston Children's Hospital, Harvard Medical School, MA; Neurology Department (C.M.d.G., L.S-M.), HC-FCM, University of Campinas, UNICAMP, Campinas, São Paulo, Brazil; Department of Neurology (I.P.d.B.), Children's Hospital of Philadelphia, PA; a
  • Pinto ALR; From the Department of Neurology (C.M.d.G., A.L.R.P.), Boston Children's Hospital, Harvard Medical School, MA; Neurology Department (C.M.d.G., L.S-M.), HC-FCM, University of Campinas, UNICAMP, Campinas, São Paulo, Brazil; Department of Neurology (I.P.d.B.), Children's Hospital of Philadelphia, PA; a
  • Silveira-Moriyama L; From the Department of Neurology (C.M.d.G., A.L.R.P.), Boston Children's Hospital, Harvard Medical School, MA; Neurology Department (C.M.d.G., L.S-M.), HC-FCM, University of Campinas, UNICAMP, Campinas, São Paulo, Brazil; Department of Neurology (I.P.d.B.), Children's Hospital of Philadelphia, PA; a
Neurology ; 101(1): 46-49, 2023 07 04.
Article in En | MEDLINE | ID: mdl-36805432
ABSTRACT
Paroxysmal exercise-induced movement disorders may be caused by energy metabolism disorders, such as Glut 1 deficiency, pyruvate dehydrogenase deficiency, or mitochondrial respiratory chain disorders. A 4-year-old boy with a history of febrile seizures presented with paroxysmal dystonia, triggered by exercise, or occurring at rest. Additional investigations demonstrated pallidal hyperintensities on brain MRI and low CSF glucose. Pyruvate and lactate were elevated. The clinical presentation combined with neuroimaging abnormalities and biochemical profile (the lactate/pyruvate ratio) were clues to pyruvate dehydrogenase deficiency, a treatable metabolic disorder with neurologic presentations.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pyruvate Dehydrogenase Complex Deficiency Disease / Chorea / Dystonia Type of study: Etiology_studies Limits: Child, preschool / Humans / Male Language: En Journal: Neurology Year: 2023 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pyruvate Dehydrogenase Complex Deficiency Disease / Chorea / Dystonia Type of study: Etiology_studies Limits: Child, preschool / Humans / Male Language: En Journal: Neurology Year: 2023 Document type: Article