ArticleWorld journal of clinical pediatrics2021
Neonatal cholestasis can be the first symptom of McCune-Albright syndrome: A case report.
Article in World journal of clinical pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- The longest reported survival of a child with McCune-Albright syndrome and a severe early presenting phenotype consisting of neonatal cushing syndrome, cardiac and liver diseases.Journal of surgical case reports · 2023Article
- Neonatal cholestasis as the onset symptom of McCune-Albright syndrome: case reports and a literature review.Frontiers in pediatrics · 2023Article
- A case report of McCune-Albright syndrome with hepatic manifestations.Clinical case reports · 2022Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMcCune-Albright syndrome (MAS) is caused by postzygotic somatic mutations of the CASE SUMMARY: 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
conclusionMAS should be considered as a differential diagnosis for transient cholestasis in infancy.
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Registered trials
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