A Patient with neonatal cholestasis

Kristl G. Claeys; Luc Breysem; Eric Legius; Hilde Brems; David Cassiman; Matthieu Moisse; Pieter Vermeersch; Elena Levtchenko; Jaak Jaeken

doi:10.34763/jmotherandchild.20202404.d-20-00012

A Patient with neonatal cholestasis

Volume 24 (2020): Issue 4 (December 2020)

By: Kristl G. Claeys , Luc Breysem, Eric Legius , Hilde Brems , David Cassiman , Matthieu Moisse , Pieter Vermeersch, Elena Levtchenko and Jaak Jaeken

Open Access

|Jul 2021

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.

References

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Articles in this issue

DOI: https://doi.org/10.34763/jmotherandchild.20202404.d-20-00012 | Journal eISSN: 2719-535X | Journal ISSN: 2719-6488

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Language: English

Page range: 31 - 33

Published on: Jul 16, 2021

Published by: Institute of Mother and Child, Warsaw, Poland

In partnership with: Paradigm Publishing Services

Publication frequency: Volume open

Keywords:

CAT-2,

dynamin-2 deficiency,

Gilbert syndrome,

polyostotic fibrous dysplasia

Related subjects:

Medicine,

Clinical medicine,

Pediatrics and juvenile medicine,

Paediatric haematology and oncology,

Public health

© 2021 Kristl G. Claeys, Luc Breysem, Eric Legius, Hilde Brems, David Cassiman, Matthieu Moisse, Pieter Vermeersch, Elena Levtchenko, Jaak Jaeken, published by Institute of Mother and Child, Warsaw, Poland
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 24 (2020): Issue 4 (December 2020)