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.
Original language | English |
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Pages (from-to) | 543-546 |
Number of pages | 4 |
Journal | Sultan Qaboos University Medical Journal |
Volume | 23 |
Issue number | 4 |
DOIs | |
Publication status | Published - Nov 30 2023 |
Keywords
- Case Report
- Intracranial haemorrhage
- Jaundice
- Oman
- Progressive Familial Intrahepatic Cholestasis type 4
- Cholestasis/complications
- Cholestasis, Intrahepatic/diagnosis
- Humans
- Male
- Infant
- Mutation
- Infant, Newborn
ASJC Scopus subject areas
- General Medicine