Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium‐chain acyl‐coenzyme A dehydrogenase deficiency

Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium‐chain acyl‐coenzyme A dehydrogenase deficiency

Abstract We describe a case of epileptic encephalopathy in a young woman with undiagnosed medium‐chain acyl‐coenzyme A dehydrogenase deficiency (MCADD), who presented with an early‐onset focal motor status epilepticus (SE) then followed by permanent left hemiplegia and drug‐resistant epilepsy with n...

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Bibliographic Details
Main Authors: Ilaria Cani, Federica Pondrelli, Laura Licchetta, Raffaella Minardi, Tania Giangregorio, Barbara Mostacci, Lorenzo Muccioli, Lidia Di Vito, Anna Fetta, Carmen Barba, Carlo Alberto Castioni, Andrea Bordugo, Paolo Tinuper, Francesca Bisulli
Format: Article
Language:English
Published: Wiley 2022-12-01
Series:Epilepsia Open
Subjects:
epileptic syndrome
fatty acid oxidation disorder
inherited metabolic disorder
intellectual disability
newborn screening
Online Access:https://doi.org/10.1002/epi4.12630

Internet

https://doi.org/10.1002/epi4.12630

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