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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 characterized 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 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.


Keywords: Jaundice; Intracranial haemorrhage; Progressive Familial Intrahepatic Cholestasis type 4.

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How to Cite
Al Housni, S., Al-Thihli, K., Rahmatalla, D., Wali, Y., & Al Rawahi, Y. (2022). Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant. Sultan Qaboos University Medical Journal, 1(1). https://doi.org/10.18295/squmj.8.2022.052