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.
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International Centre for Genetic Engineering and Biotechnology (ICGEB), Padriciano 99, 34149 Trieste, Italy.
Crigler-Najjar syndrome is an ultra-rare monogenic recessive liver disease caused by gene mutations. Complete UGT1A1 deficiency results in severe unconjugated hyperbilirubinemia in newborns that, if not treated, may lead to brain damage and death. Treatment is based on intensive phototherapy, but its efficacy decreases with age, rendering liver transplantation the only curative option.
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