Infant with Loeys-Dietz syndrome treated for febrile status epilepticus with COVID-19 infection: first reported case of febrile status epilepticus and focal seizures in a patient with Loeys-Dietz syndrome and review of literature

Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant multisystem disorder that is caused by mutations of transforming growth factor-β receptors. Mutations in SMAD3 and TGFB3 have been recently reported. LDS is characterised by the triad of arterial tortuosity, hypertelorism and a bifid uvula or...

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Detalles Bibliográficos
Autores principales: Akbar, Asra, Ahmad, Sharjeel, Creeden, Sean, Huynh, Huan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Case Reports: Rare disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9639018/
https://www.ncbi.nlm.nih.gov/pubmed/36328362
http://dx.doi.org/10.1136/bcr-2022-250587

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