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Crigler-Najjar Syndrome

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Topic updated on 11/07/17 5:20pm

Snapshot
  • An infant is brought to the pediatrician by his parents because they are concerned about the yellow color of his skin and general behavior changes. They report that he has seemed more tired and weak with his arms just flopping down by his side instead of him reaching for his toys. The parents are known to be first cousins. 

Crigler Najjar

Introduction
  • Hereditary unconjugated hyperbilirubinemia 
    • absent or low levels of hepatic bilirubin-UGT (UGT1A1 activity)
    • Type I: severe jaundice, kernicterus
    • Type II: less severe (Arias syndrome)
  • Presents early in life
  • Results in brain damage in infancy
Presentation
  • Symptoms
    • neonatal jaundice
    • sepsis
    • hypotonia
    • kernicterus
      • deafness
      • poor mental progression/development
  • Physical exam
    • jaundice
    • oculomotor palsy
Evaluation
  • Labs
    • normal liver function tests 
      • AST, ALT, alkaline phosphatase
    • unconjugated hyperbilirubinemia
  • Imaging
    • may reveal pyloric stenosis
Treatment
  • Plasmapheresis
  • Phototherapy
  • Phenobarbital 
    • only for type II
      • results in ↑ UDP-glucuronyl transferase synthesis
  • Liver transplant
Prognosis, Prevention, and Complications
  • Kernicterus
    • bilirubin deposition in brain
    • poor development/mental function
  • If severe, patients die within a few years


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