Crigler-Najjar Syndrome, 1952–2000: Learning From Parents and Patients About a Very Rare Disease and Using the Internet to Recruit Patients for Studies

The Crigler-Najjar syndrome was first described in this journal in 1952.¹  The majority of patients died with kernicterus during the neonatal period. In 1958, the use of phototherapy to treat neonatal jaundice was first reported in England.²  This therapy was not adopted in the United States until 1968 when the first randomized controlled trial to prevent neonatal jaundice was reported, also in this journal.³ Little attention was paid to the first reports that phototherapy could be used to modify neonatal hyperbilirubinemia in Crigler-Najjar patients.^4 ,5  Over the next 20 years, it became apparent that this is an effective, if inconvenient, therapy. An increasing number of Crigler-Najjar patients now survive into adolescence. The syndrome can be “cured” by hepatic transplants first conducted in 1986.⁶  The enzymatic defect in the liver was identified in 1957⁷ and the locus of the missing gene in 1992.⁸  Advancements...