{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T10:26:19Z","timestamp":1793701579156,"version":"4.5.1"},"reference-count":0,"publisher":"Sultan Qaboos University","issue":"4","license":[{"start":{"date-parts":[[2023,11,30]],"date-time":"2023-11-30T00:00:00Z","timestamp":1701302400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sultan Qaboos University Medical Journal"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.18295\/squmj.8.2022.052","type":"journal-article","created":{"date-parts":[[2022,8,23]],"date-time":"2022-08-23T05:17:10Z","timestamp":1661231830000},"page":"543-546","source":"Crossref","is-referenced-by-count":1,"title":["Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant"],"prefix":"10.18295","volume":"23","author":[{"given":"Samira","family":"Al Housni","sequence":"first","affiliation":[{"name":"Pediatric Department, Oman Medical Specialty Board, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid","family":"Al-Thihli","sequence":"additional","affiliation":[{"name":"Department of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dafalla","family":"Rahmatalla","sequence":"additional","affiliation":[{"name":"Department of Child Health, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasser","family":"Wali","sequence":"additional","affiliation":[{"name":"Department of Child Health, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yusriya","family":"Al Rawahi","sequence":"additional","affiliation":[{"name":"Department of Child Health, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"7681","published-online":{"date-parts":[[2023,11,30]]},"container-title":["Sultan Qaboos University Medical Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.squ.edu.om\/index.php\/squmj\/article\/download\/5241\/3519","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.squ.edu.om\/index.php\/squmj\/article\/download\/5241\/3519","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T09:32:28Z","timestamp":1793698348000},"score":1,"resource":{"primary":{"URL":"https:\/\/mjournal.squ.edu.om\/home\/vol23\/iss4\/17"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,30]]},"references-count":0,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2023,11,30]]}},"URL":"https:\/\/doi.org\/10.18295\/squmj.8.2022.052","relation":{},"ISSN":["2075-0528"],"issn-type":[{"value":"2075-0528","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,30]]}}}