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Partial Bile Duct Ligation in the Mouse: A Controlled Model of Localized Obstructive Cholestasis
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Severe Neonatal Cholestasis as an Early Presentation of McCune-Albright Syndrome

Nicole Coles1, Ian Comeau2, Tatiana Munoz3

  • 1University of Toronto, Hospital for Sick Children, Clinic of Endocrinology, Toronto, Canada

Journal of Clinical Research in Pediatric Endocrinology
|July 12, 2018
PubMed

Insights

McCune-Albright syndrome (MAS) can cause severe neonatal cholestasis, a rare complication often considered benign. This case highlights the need for early MAS diagnosis in infants with persistent jaundice, potentially requiring liver transplantation.

Area of Science:

  • Pediatric Gastroenterology
  • Genetic Disorders
  • Hepatology

Background:

  • McCune-Albright syndrome (MAS) is a rare genetic disorder.
  • Key features include café-au-lait macules, polyostotic fibrous dysplasia, and endocrinopathies.
  • Liver involvement is an uncommon complication of MAS.

Observation:

  • A case of MAS presented with severe neonatal cholestasis.
  • The cholestasis was persistent and required liver transplantation.
  • This represents a severe phenotype, contrasting with previous descriptions.

Findings:

  • Neonatal cholestasis can be a severe manifestation of MAS.
  • Persistent cholestasis in MAS may necessitate liver transplantation.
  • This case underscores the variability in MAS liver involvement.

Implications:

  • MAS should be considered in the differential diagnosis of neonatal cholestasis.
  • Early diagnosis of MAS is crucial for managing associated endocrinopathies.
  • Recognizing severe liver phenotypes in MAS can guide treatment and prognosis.

Keywords:
McCune-Albright syndromeneonatal cholestasisprecocious puberty

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