Abstract

BETANCOURT GUERRA, Yuri; ESPINO DELGADO, Rosa María; REYES MEJIAS, Yanet  and  VILLAFANA CARMENATE, Marien. Alagille syndrome. Rev Cubana Pediatr [online]. 2013, vol.85, n.1, pp.130-136. ISSN 0034-7531.

Alagille syndrome is a genetic disorder and its main manifestation is chronic cholestasis caused by intrahepatic bile duct hypoplasia. It is associated with cardiac, renal and skeletal congenital malformations with peculiar phenotypes. It can occur in one per 100 000 livebirths. The histological lesions are caused by a reduction of the ratio of the number of bile ducts and the number of porta spaces. The global mortality rate of the disease is 20 % and the patients may need some hepatic transplantation for survival. Here is the case of a 6 years-old girl who was admitted to "Dr Eduardo Agramonte Piña" hospital when she was 23-days-old because she had bronchopneumonia, but during her stay at hospital, she was detected a cholestatic syndrome with jaundice and acholia in addition to pulmonary stenosis and characteristic facies. A hepatic biopsy was performed. On the basis of some diagnostic criteria, the case was evaluated and diagnosed with this disease. Her progression was stable and she was followed-up until she was 6 years of age when she finally was admitted to "William Soler" hospital for liver transplantation.

Keywords : Alagille syndrome; cholestasis; biliary hypoplasia.

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