Pearls & Oysters: Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency

Autor:	Claudio M. de Gusmao, Isabella Peixoto de Barcelos, Anna L. R. Pinto, Laura Silveira-Moriyama
Rok vydání:	2023
Předmět:	Neurology (clinical)
Zdroj:	Neurology.
ISSN:	1526-632X 0028-3878
DOI:	10.1212/wnl.0000000000207142
Popis:	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 neurological presentations.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::1d15adfaad565ab4e7e327ccdcd97e61 https://doi.org/10.1212/wnl.0000000000207142 Zobrazit plný text záznamu