Dagmar Procházková, Romana Borská, Lenka Fajkusová, Petra Konečná, Eliška Hloušková, Kateřina Slabá
Claryfying the causes of liver cholestasis in childhood can be a complex problem. Alagill’s syndrome (ALGS) is a variable, autosomal dominant multisystemic disease. The basic symptom of the affection is the reduction of intrahepatic biliary tract in combination of 5 diagnostic signs: cholestasis, congenital heart disease (most commonly peripheral pulmonary stenosis), skeletal abnormalities (butterfly vertebra), eye involvement (embryotoxon posterior) and characteristic facial appearance in a triangular shape, broad forehead, deep-set eyes, hypertelorism, lower-set ears and longer onion nose. In our report we describe a case of proband with ALGS1, which was confirmed by molecular genetic examination of the JAG1 gene.