World Journal of
Pharmaceutical and Life Sciences

BILIARY TRACT ATRESIA ASSOCIATED WITH ALAGILLE SYNDROME AT THE PAEDIATRICS DEPARTEMENT OF RABAT: CASE REPORT AND REVIEW OF THE LITERATURE

Al Maimouni Sara*, Belhaouz Ismail and El Hasbaoui Brahim

ABSTRACT

Biliary atresia is a frequent cause of neonatal cholestasis, characterized by intra- and extra-hepatic bile duct obs-truction. Alagille syndrome, an autosomal dominant multisystemic disorder, may be clinically indistinguishable from biliary atresia in the neonatal period. We report the case of a child with Alagille syndrome, with a history of biliary atresia. and confirmation of Alagille syndrome on the basis of clinical, paraclinical and genetic criteria, including a missense mutation of the JAG1 gene. Confirmation of the clinical diagnosis of Alagille syndrome in patients without biliary atresia by the discovery of new pathogenic mutations in the JAG1 gene is not surprising. However, the role of JAG1 mutations in the etiology of biliary atresia remains unclear. Our results do not confirm the association of biliary atresia with JAG1 mutations. In conclusion, mutational analysis of JAG1, in addition to liver histology, could be useful in diagnosing the "grey zone" of patients with Alagille syndrome initially pre-senting as biliary atresia in early childhood. Early molecular diagnostics should be considered in selected cases of overlapping Alagille syndrome and biliary atresia.

[Full Text Article]   [Download Certificate]