A Rare Misdiagnosed Pediatric Case of Progressive Familial Intrahepatic Cholestasis II in a 9-Month-Old Infant –Pitfalls of a Developing Country

The rare genetic liver condition known as Progressive Familial Intrahepatic Cholestasis (PFIC) presents early-onset cholestasis while medical teams frequently mistake the condition so that it receives an incorrect diagnosis because PFIC shares clinical signs with multiple other medical issues. A 9-month-old infant from a limited-resource community was first misdiagnosed with galactosemia because of their jaundice and growth deficits and enlarged liver and urinary reducing sugar presence initially. The introduction of lactose-free feeding did not lead to improvements in patient health condition. Pathogenic variants of ABCB11 and UGT1A1 were identified through the later genetic testing processes that were delayed by financial restrictions confirming PFIC II. The patient passed away from hepatic failure complications prior to liver transplant assessment. The rarity of hepatic disorders creates diagnostic obstacles in limited resource laboratories because they lack sophisticated testing methods that delay proper diagnosis and necessary healthcare interventions. The case illustrates how genetic analysis represents a vital tool for diagnosing PFIC while motivating improved access to diagnostic testing programs in developing nations. Our purpose in presenting this case study informs the medical community about the necessity to enhance both clinical treating skills and healthcare system quality for identifying rare pediatric liver conditions earlier to optimize patient results.