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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.
Afiliação
  • 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 em 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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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença da Deficiência do Complexo de Piruvato Desidrogenase / Coreia / Distonia Tipo de estudo: Etiology_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: Neurology Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença da Deficiência do Complexo de Piruvato Desidrogenase / Coreia / Distonia Tipo de estudo: Etiology_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: Neurology Ano de publicação: 2023 Tipo de documento: Article