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

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 neurodevel...

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Detalles Bibliográficos
Autores principales: Cani, Ilaria, Pondrelli, Federica, Licchetta, Laura, Minardi, Raffaella, Giangregorio, Tania, Mostacci, Barbara, Muccioli, Lorenzo, Di Vito, Lidia, Fetta, Anna, Barba, Carmen, Castioni, Carlo Alberto, Bordugo, Andrea, Tinuper, Paolo, Bisulli, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Short Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9712474/
https://www.ncbi.nlm.nih.gov/pubmed/35869793
http://dx.doi.org/10.1002/epi4.12630

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9712474/
https://www.ncbi.nlm.nih.gov/pubmed/35869793
http://dx.doi.org/10.1002/epi4.12630

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