Neonatal cholestasis can be the first symptom of McCune-Albright syndrome: A case report.
Alagille syndrome
Bile duct paucity
Case report
GNAS
McCune–Albright syndrome
Neonatal cholestasis
Journal
World journal of clinical pediatrics
ISSN: 2219-2808
Titre abrégé: World J Clin Pediatr
Pays: United States
ID NLM: 101627548
Informations de publication
Date de publication:
09 Mar 2021
09 Mar 2021
Historique:
received:
22
12
2020
revised:
22
01
2021
accepted:
12
02
2021
entrez:
24
3
2021
pubmed:
25
3
2021
medline:
25
3
2021
Statut:
epublish
Résumé
McCune-Albright syndrome (MAS) is caused by postzygotic somatic mutations of the This is a case of a 4-year-old boy who presented with MAS with neonatal cholestasis. He was suspected to have Alagille syndrome due to neonatal cholestasis with intrahepatic bile duct paucity in liver biopsy, peripheral pulmonary artery stenosis, and renal tubular dysfunction. By the age of 2 years, his cholestatic liver injury gradually improved, but he had repeated left femoral fractures. He did not exhibit endocrinological abnormality or café-au-lait skin spots. However, MAS was suspected due to fibrous dysplasia at the age of 4 years. No mutation was identified in the MAS should be considered as a differential diagnosis for transient cholestasis in infancy.
Sections du résumé
BACKGROUND
BACKGROUND
McCune-Albright syndrome (MAS) is caused by postzygotic somatic mutations of the
CASE SUMMARY
METHODS
This is a case of a 4-year-old boy who presented with MAS with neonatal cholestasis. He was suspected to have Alagille syndrome due to neonatal cholestasis with intrahepatic bile duct paucity in liver biopsy, peripheral pulmonary artery stenosis, and renal tubular dysfunction. By the age of 2 years, his cholestatic liver injury gradually improved, but he had repeated left femoral fractures. He did not exhibit endocrinological abnormality or café-au-lait skin spots. However, MAS was suspected due to fibrous dysplasia at the age of 4 years. No mutation was identified in the
CONCLUSION
CONCLUSIONS
MAS should be considered as a differential diagnosis for transient cholestasis in infancy.
Identifiants
pubmed: 33758748
doi: 10.5409/wjcp.v10.i2.7
pmc: PMC7958557
doi:
Types de publication
Case Reports
Langues
eng
Pagination
7-14Informations de copyright
©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflict-of-interest statement: The authors have no conflicts of interest to declare.
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