Crigler-Najjar syndrome in Saudi Arabia.

Abstract

Crigler-Najjar (CN) syndrome is a congenital familial nonhemolytic jaundice associated with high level of unconjugated bilirubin due to deficient uridine diphosphate glucuronosyltransferase (UDPG-T) activity in the liver. The aim of this report is to emphasize the need for increased awareness of this potentially fatal condition unless diagnosed early and managed appropriately. Between 1986-1994, 12 patients (8 males and 4 females) were diagnosed at our hospital with CN syndrome. Jaundice was detected in the first few days of life in all but one, in whom detection was delayed for two weeks and resulted in kernicterus. Exchange transfusions were necessary in six cases. Consanguinity was present in 11 patients, eight of whom were the offspring of first cousins. None of the patients responded to phenobarbital therapy alone, which reflects the severity of their disease. Six patients required only phototherapy while the remaining six patients required a combination of phenobarbital and phototherapy. Percutaneous liver biopsy, performed in 10 patients, showed minimal and focal cholestasis in eight, while the remaining two had a normal histological picture. Almost complete absence of the activity of UDPGT in the liver was reported in seven cases. Kernicterus developed in five cases. It is concluded that CN syndrome remains a potentially fatal condition unless diagnosed early and managed appropriately. The recent adoption of liver segment transplantation, whether orthotopic or living-related, has saved affected patients the daily long hours of phototherapy. One of our patients successfully underwent living-related segmental liver transplantation.