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Published on: September 20, 2018

[A case report of Byler's syndrome]

B S Kaganov, T V Strokova, I V Machulan

    Eksperimental'Naia I Klinicheskaia Gastroenterologiia = Experimental & Clinical Gastroenterology
    |July 20, 2012
    PubMed

    Insights

    This case report details a child with Byler's syndrome, a rare inherited liver condition. Complex treatment improved the child's health, enhancing their quality of life and liver transplant prognosis.

    Area of Science:

    • Hepatology
    • Pediatric Gastroenterology
    • Medical Genetics

    Background:

    • Progressive familial intrahepatic cholestasis type II (PFIC-II), also known as Byler's syndrome, is a rare inherited disorder.
    • Characterized by structural abnormalities of the bile canalicular membrane, leading to cholestasis.
    • Patients often require liver transplantation due to disease severity.

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