[Type I Crigler Najjar syndrome in Tunisia; a study of 30 cases]

ABSTRACT

Crigler-Najjar syndrome is a rare metabolic disorder characterized by severe unconjugated hyperbilirubinemia resulting in deficiency of bilirubin uridine diphosphate [UDP] glucuronosyltransferase activity in the liver. To study the clinical, genetic therapeutic aspects and the outcome of Crigler Najjar type 1 in Tunisia. This is a retrospective report of Crigler Najjar cases who were hospitalized in pediatric department of Hedi Chaker hospital during 21 years [from 1st January to 31 December 2006]. Our study included 30 cases of Crigler-Najjar syndrome; there were 10 females and 20 males [sex ratio = 2]. The mean age of our patients was 41 days [4 days - 9 months]. All patients were presented with intense jaundice. Sixteen patients had neurologic disorders since admission. Genetic analysis was performed in 9 patients; we identified the same mutation in all cases -C1070>G in exon 3 of the UDP glucuronyl transferase. Concerning therapeutic measurements, conventional phototherapy was used in all patients. A fatal out come was observed in 28 case; they died of kernicterus. Crigler-Najjar syndrome is a serious disorder which, when not treated, ultimately leads to brain damage [bilirubin encephalopathy] and death. That's why we must promote prenatal diagnosis and genetic council especially because of the big frequency of consanguinity in our country