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.
Publication details
- DOI
- 10.18295/squmj.8.2022.052
- Journal
- Sultan Qaboos University Medical Journal, 23(4), 543-546
- Publisher
- Sultan Qaboos University
- Open access
- Gold open access
- License
- CC BY-ND 4.0
Cite this article
APA 7
Al Housni, S., Al-Thihli, K., Rahmatalla, D., Wali, Y., & Al Rawahi, Y. (2025). Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant. Sultan Qaboos University Medical Journal, 23(4), 543-546. https://doi.org/10.18295/squmj.8.2022.052
MLA 9
Al Housni, Samira, et al. "Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant." Sultan Qaboos University Medical Journal, vol. 23, no. 4, 2025, pp. 543-546. https://doi.org/10.18295/squmj.8.2022.052.
Chicago (author–date)
Al Housni, Samira, Khalid Al-Thihli, Dafalla Rahmatalla, Yasser Wali, and Yusriya Al Rawahi. 2025. "Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant." Sultan Qaboos University Medical Journal 23 (4): 543-546. https://doi.org/10.18295/squmj.8.2022.052.
Harvard
Al Housni, S., Al-Thihli, K., Rahmatalla, D., Wali, Y. and Al Rawahi, Y. (2025) 'Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant', Sultan Qaboos University Medical Journal, 23(4), pp. 543-546. doi:10.18295/squmj.8.2022.052.
Vancouver
Al Housni S, Al-Thihli K, Rahmatalla D, Wali Y, Al Rawahi Y. Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant. Sultan Qaboos University Medical Journal. 2025;23(4):543-546. doi:10.18295/squmj.8.2022.052
IEEE
S. Al Housni, K. Al-Thihli, D. Rahmatalla, Y. Wali, and Y. Al Rawahi, "Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant," Sultan Qaboos University Medical Journal, vol. 23, no. 4, pp. 543-546, 2025, doi: 10.18295/squmj.8.2022.052.