Alagillův syndrom-arteriohepatální dysplázie: kazuistika

Title in English Alagillś syndrome- arteriohepatic dysplasia: a case report
Authors

PROCHÁZKOVÁ Dagmar BORSKÁ Romana FAJKUSOVÁ Lenka KONEČNÁ Petra HLOUŠKOVÁ Eliška SLABÁ Kateřina

Year of publication 2019
Type Article in Periodical
Magazine / Source Pediatria
MU Faculty or unit

Faculty of Medicine

Citation
Web http://www.amedi.sk
Keywords Alagillś syndrome cholestasis
Description 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.

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