Progressive Familial Intrahepatic Cholestasis Type 8 Due to a Novel KIF12 Gene Mutation

This case report describes a 7-year-old boy with progressive familial intrahepatic cholestasis (PFIC) type 8 caused by a homozygous KIF12 mutation, presenting with jaundice, severe pruritus, digital clubbing, and advanced liver disease. The diagnosis was confirmed through a comprehensive evaluation integrating clinical findings, biochemical profiling, imaging, and whole-exome sequencing. Clinical images of clubbing and icterus enhance the diagnostic narrative, emphasizing key physical signs. This case contributes to the sparse literature on PFIC8, highlighting the critical role of molecular diagnostics in rare liver diseases and advocating for increased awareness and research into this understudied subtype of familial intrahepatic cholestasis.