Pearls & Oy-sters: Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency.
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doença da Deficiência do Complexo de Piruvato Desidrogenase
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Coreia
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Distonia
Tipo de estudo:
Etiology_studies
Limite:
Child, preschool
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Humans
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Male
Idioma:
En
Revista:
Neurology
Ano de publicação:
2023
Tipo de documento:
Article