Abstract
This case represents the first documented diagnosis of PFIC Type 7 in a Japanese infant, expanding the understanding of the ethnic demographics and geographical distributions of USP53 associated cholestasis.
This case highlights an unusual clinical presentation of PFIC Type 7, which may present with initial complications including coagulopathy and intracranial haemorrhage as seen in this case rather than typical features such as jaundice or pruritus. This highlights the importance of considering hepatobiliary disorders as a differential diagnosis in the investigation of unexplained bleeding in infants.
The diagnosis of PFIC Type 7 in this patient was made via trio exome sequencing, as the USP53 gene is not routinely included in standard genetic panels for cholestasis. Incorporating USP53 into these panels could facilitate earlier recognition of and subsequent intervention for this condition.
Long term management involves correction of fat-soluble vitamin deficiency and supportive management of cholestasis. Improvement with rifampicin, as observed in this case, supports its potential therapeutic role, though the mechanism remains uncertain.