A Patient with Neonatal Cholestasis

The patient, a boy born in 1991, showed pronounced polyostotic fibrous dysplasia due to McCune–Albright syndrome, as well as Gilbert syndrome and Charcot–Marie–Tooth neuropathy caused by a DNM2 mutation. In addition, the patient, his sister, mother and maternal grandfather had intermittently increas...

Descripción completa

Detalles Bibliográficos
Autores principales: Claeys, Kristl G., Breysem, Luc, Legius, Eric, Brems, Hilde, Cassiman, David, Moisse, Matthieu, Vermeersch, Pieter, Levtchenko, Elena, Jaeken, Jaak
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2021
Materias:
Case Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8330358/
https://www.ncbi.nlm.nih.gov/pubmed/33684277
http://dx.doi.org/10.34763/jmotherandchild.20202404.d-20-00012
Descripción
Sumario:The patient, a boy born in 1991, showed pronounced polyostotic fibrous dysplasia due to McCune–Albright syndrome, as well as Gilbert syndrome and Charcot–Marie–Tooth neuropathy caused by a DNM2 mutation. In addition, the patient, his sister, mother and maternal grandfather had intermittently increased plasma arginine and lysine levels, most probably due to heterozygosity for a novel pathogenic SLC7A2 variant.

Ejemplares similares