A Patient with neonatal cholestasis

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

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

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A Patient with neonatal cholestasis

Journal of Mother and Child

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

Javaid MK, Boyce A, Appelman-Dijkstra N, Ong J, Defabianis P, Offiah A, et al. Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium. Orphanet J Rare Dis. 2019;14:139. doi: 10.118.6/s13023-019-1255-6
Open DOI Search in Google Scholar Back to article
El-Rifai N, Lumbroso S, Cartigny M, Weill J, Sultan C, Gottrand F. Infant cholestasis in McCune-Albright syndrome. Acta Paediatr. 2004;93:141. doi: 10.1080/08035250310007880
Open DOI Search in Google Scholar Back to article
Claeys KG, Zuchner S, Kennerson M, Berciano J, García A, Verhoeven K, et al. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Brain. 2009;132:1741–52. doi: 10.1093/brain/awp115
Open DOI Search in Google Scholar Back to article
Yahyaoui R, Blasco-Alonso J, Benito C, Rodríguez-García E, Andrade F, Aldámiz-Echevarría L, et al. A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening. J Inherit Metab Dis. 2019;42:407–13. doi: 10.1002/jimd.12063
Open DOI Search in Google Scholar Back to article

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

In partnership with: Paradigm Publishing Services

Publication frequency: 1 issue per year

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
This work is licensed under the Creative Commons Attribution 4.0 License.

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