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 language | English (US) |
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Pages (from-to) | 154-158 |
Number of pages | 5 |
Journal | Pediatric and Developmental Pathology |
Volume | 24 |
Issue number | 2 |
DOIs | |
State | Published - 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