Pearls & Oy-sters: Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency.

Autor:	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; and Education Unit (L.S-M.), UCL Institute of Neurology, University College London, UK. claudio.degusmao@childrens.harvard.edu., 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; and Education Unit (L.S-M.), UCL Institute of Neurology, University College London, UK., 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; and Education Unit (L.S-M.), UCL Institute of Neurology, University College London, UK., 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; and Education Unit (L.S-M.), UCL Institute of Neurology, University College London, UK.
Jazyk:	angličtina
Zdroj:	Neurology [Neurology] 2023 Jul 04; Vol. 101 (1), pp. 46-49. Date of Electronic Publication: 2023 Feb 20.
DOI:	10.1212/WNL.0000000000207142
Abstrakt:	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. (© 2023 American Academy of Neurology.)
Databáze:	MEDLINE
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