Byler Syndrome – A Case Report
Authors:
V. Bartoš 1; Ľ. Lauko 1; R. Szépeová 2; N. Mišovicová 3; M. Dekanová 4
Authors‘ workplace:
Ústav patologickej anatómie JLF UK a MFN, Martin
1; Klinika detí a dorastu JLF UK a MFN, Martin
2; Oddelenie genetiky MFN, Martin
3; Praktický lekár pre deti a dorast
4
Published in:
Čes-slov Pediat 2006; 61 (1): 32-35.
Category:
Case Report
Overview
Bylers syndrome is a part of spectrum of syndromes called progressive familial intrahepatic cholestasis. The cause of Bylers syndrome is a gene mutation with following changes in gene product, that is needed for bile production and canalicular export. This fatal disorder is characterised by autosomal recessive inheritance, begins in infancy, progress rapidly and usually cause cirrhosis within the first decade of life. The authors of the article present a case report of two siblings with Bylers syndrome documentated by bioptical and necroptical findings in the liver.
Key words:
progressive familial intrahepatic cholestasis, Bylers disease, Bylers syndrome
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2006 Issue 1
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