What is Crigler-Najjar syndrome?

Updated: May 21, 2019
  • Author: Hisham Nazer, MBBCh, FRCP, DTM&H; Chief Editor: BS Anand, MD  more...
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First described by Crigler and Najjar in 1952, Crigler-Najjar syndrome is a congenital, familial, nonhemolytic jaundice associated with high levels of unconjugated bilirubin. The original report described 6 infants from 3 related families with severe unconjugated hyperbilirubinemia, which was recognized shortly after birth. (See Prognosis.)

Five of the children died by the age of 15 months of kernicterus, a potentially fatal disorder affecting the basal ganglia and other parts of the central nervous system. The remaining patient died at age 15 years, several months after suffering a devastating brain injury. [7] (Activation of astrocytes by unconjugated hyperbilirubinemia is believed to play a major part in kernicterus via the production of inflammatory cytokines. [8] )

Crigler-Najjar syndrome is a rare disorder caused by an impairment of bilirubin metabolism resulting in a deficiency or complete absence of hepatic microsomal bilirubin-uridine diphosphate glucuronosyltransferase (bilirubin-UGT) activity. (See Pathophysiology and Etiology.)

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