Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment

We present a two-week old girl who was diagnosed with cerebrotendinous xanthomatosis (CTX), an inborn error of bile acid synthesis, after a diagnostic workup for convulsions which were shown to be caused by a parechovirus encephalitis. The diagnosis of CTX was confirmed with CYP27A1 mutation analysi...

Descripción completa

Detalles Bibliográficos
Autores principales: Huidekoper, Hidde H., Vaz, Frédéric M., Verrips, Aad, Bosch, Annet M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4709371/
https://www.ncbi.nlm.nih.gov/pubmed/26156051
http://dx.doi.org/10.1007/s00431-015-2584-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4709371/
https://www.ncbi.nlm.nih.gov/pubmed/26156051
http://dx.doi.org/10.1007/s00431-015-2584-7

Ejemplares similares