Alagille's syndrome and hepatic transplantation

Abstract

Alagille's syndrome in an uncommon disease. It is a dominant autosomal disorder with great penetrance and variable expressivity. It is characterized by intrahepatic biliary hypoplasia that may be seen in the first three months of life. It is associated to diverse clinical manifestations (cardiac, ophthalmological, vertebral, characteristic facies, etc.). We present the case of a male patient who presented with jaundice during the first days of life, subsequently being diagnosed of the syndrome. At one year of life, a transplant was performed, with good clinical response after being retransplanted due to acute rejection. Three years later, he had chronic rejection, being subjected to immunosuppressant treatment, after which he required several admissions due to neutropenia.