Liver Fibrosis Associated With Crigler-Najjar Syndrome in a Compound Heterozygote: A Case Report

Pediatr Dev Pathol. 2017 Nov-Dec;20(6):522-525. doi: 10.1177/1093526617697059. Epub 2017 Mar 14.

Abstract

Crigler-Najjar syndrome is a hereditary unconjugated hyperbilirubinemia. Two forms of the disease are recognized. Type I is more severe and results in kernicterus if left untreated, and Type II is less severe and responds to phenobarbital. While Crigler-Najjar syndrome is thought by many to have normal liver histology, few reports of the liver pathology exist. Herein, we present a 19-year-old patient with Crigler-Najjar who underwent liver transplantation. The liver showed marked canalicular cholestasis with portal and variable, delicate, bridging fibrosis. Correlation of the patient's genetic test results and clinical phenotype is presented.

Keywords: Crigler–Najjar; fibrosis; genetics; liver; pathology; transplant.

Publication types

  • Case Reports

MeSH terms

  • Crigler-Najjar Syndrome / diagnosis
  • Crigler-Najjar Syndrome / genetics
  • Crigler-Najjar Syndrome / pathology*
  • Crigler-Najjar Syndrome / surgery
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Genetic Markers
  • Glucuronosyltransferase / genetics
  • Heterozygote*
  • Humans
  • Liver / pathology*
  • Liver Cirrhosis / diagnosis
  • Liver Cirrhosis / etiology*
  • Liver Cirrhosis / pathology
  • Liver Transplantation
  • Male
  • Point Mutation
  • Receptors, Cell Surface / genetics
  • Sphingomyelin Phosphodiesterase / genetics
  • Young Adult

Substances

  • CFTR protein, human
  • Genetic Markers
  • PKHD1 protein, human
  • Receptors, Cell Surface
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • UGT1A1 enzyme
  • Glucuronosyltransferase
  • SMPD1 protein, human
  • Sphingomyelin Phosphodiesterase

Supplementary concepts

  • Crigler Najjar syndrome, type 2