A Patient with neonatal cholestasis

J Mother Child. 2021 Jul 16;24(4):31-33. doi: 10.34763/jmotherandchild.20202404.d-20-00012.

Abstract

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.

Keywords: CAT-2; Gilbert syndrome; dynamin-2 deficiency; polyostotic fibrous dysplasia.

MeSH terms

  • Adult
  • Charcot-Marie-Tooth Disease*
  • Cholestasis*
  • Fibrous Dysplasia, Polyostotic*
  • Humans
  • Infant, Newborn
  • Infant, Newborn, Diseases*
  • Male
  • Mutation