Pearls & Oy-sters: Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
Claudio M de Gusmao1, Isabella Peixoto de Barcelos2, Anna L R Pinto2
1From 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.
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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