Alagillův syndrom-arteriohepatální dysplázie: kazuistika
| Title in English | Alagillś syndrome- arteriohepatic dysplasia: a case report |
|---|---|
| Authors | |
| Year of publication | 2019 |
| Type | Article in Periodical |
| Magazine / Source | Pediatria |
| MU Faculty or unit | |
| 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. |