[
    {
        "id": "osp-10235",
        "type": "article-journal",
        "title": "Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant",
        "author": [
            {
                "family": "Al Housni",
                "given": "Samira"
            },
            {
                "family": "Al-Thihli",
                "given": "Khalid"
            },
            {
                "family": "Rahmatalla",
                "given": "Dafalla"
            },
            {
                "family": "Wali",
                "given": "Yasser"
            },
            {
                "family": "Al Rawahi",
                "given": "Yusriya"
            }
        ],
        "URL": "https://omanscience.com/en/articles/severe-neonatal-presentation-of-progressive-familial-intrahepatic-cholestasis-type-4-in-an-omani-infant",
        "language": "en",
        "issued": {
            "date-parts": [
                [
                    2025
                ]
            ]
        },
        "container-title": "Sultan Qaboos University Medical Journal",
        "volume": "23",
        "issue": "4",
        "page": "543-546",
        "DOI": "10.18295/squmj.8.2022.052",
        "publisher": "Sultan Qaboos University",
        "ISSN": "2075-051X",
        "abstract": "Progressive familial intrahepatic cholestasis type 4 (PFIC4) is a relatively newly described autosomal recessive disorder caused by biallelic mutations in the gene encoding tight junction protein 2 (TJP2) which is located in chromosome 9q21. PFIC4 is characterised by cholestasis with or without other extrahepatic manifestations. Bleeding tendency due to vitamin k deficiency is a well-known complication of cholestasis. We present a neonate who presented to the Emergency Department at a tertiary care hospital in 2021 with cholestasis and multiple intracranial bleeds. He was found to have severe coagulopathy and his genetic work up revealed a homozygous variant mutation in TJP2 gene causing PFIC4. He had persistent cholestasis that necessitated an internal biliary diversion with some clinical improvement."
    }
]