Article
A Patient with neonatal cholestasis.
Journal of mother and child - 16 Jul 2021
Claeys Kristl G, Breysem Luc, Legius Eric, Brems Hilde, Cassiman David, Moisse Matthieu, Vermeersch Pieter, Levtchenko Elena, Jaeken Jaak
Abstract excerpt
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.
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