A Case of Dubin-Johnson Syndrome Presenting as Neonatal Cholestasis With Paucity of Interlobular Bile Ducts

Kara L. Chan, Natasha Varughese, Patricia M. Jones, David L. Zwick, Veena Rajaram, Michael Lee, Charina M. Ramirez

Research output: Contribution to journalArticlepeer-review

Abstract

Dubin-Johnson syndrome (DJS) is a rare autosomal recessive disorder that typically manifests in young adulthood as jaundice with conjugated hyperbilirubinemia. We report a case presenting as neonatal cholestasis with the unexpected histologic finding of paucity of interlobular bile ducts, a feature that is not typically seen in DJS. The diagnosis was confirmed by absent canalicular multidrug-resistance-associated protein 2 (MRP2) immunohistochemical staining on liver biopsy tissue and molecular genetic testing that demonstrated heterozygous mutations in the ATP-Binding Cassette Subfamily C Member 2 (ABCC2) gene, including a novel missense mutation. This report describes a case of DJS with atypical clinicopathologic findings and suggests that DJS should be considered in patients with neonatal cholestasis and bile duct paucity.

Original languageEnglish (US)
Pages (from-to)154-158
Number of pages5
JournalPediatric and Developmental Pathology
Volume24
Issue number2
DOIs
StatePublished - Apr 2021

Keywords

  • ABCC2
  • Dubin-Johnson syndrome
  • MRP2
  • jaundice
  • neonatal cholestasis
  • paucity of interlobular bile ducts

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

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