Progressive Familial Intrahepatic Cholestasis Type 2 in an Infant: Diagnostic Challenges and Multidisciplinary Management.

Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare genetic disorder characterized by severe intrahepatic cholestasis, which often manifests in infancy with progressive liver dysfunction. We present the case of a 3-month-old infant with a one-month history of jaundice, vomiting, and bloody stools, presenting a unique set of diagnostic challenges. Initial clinical and laboratory findings indicated significant liver dysfunction, prompting further imaging and genetic analysis. An abdominal ultrasound revealed hepatomegaly with a coarse liver texture, while a hepatobiliary iminodiacetic acid (HIDA) scan ruled out biliary atresia. Ultimately, genetic testing confirmed a mutation in the ABCB11 gene, diagnostic of PFIC2. Management included total parenteral nutrition to support growth, ursodeoxycholic acid to improve bile flow, and rifampicin to alleviate pruritus. Due to the severity of the disease, a liver transplant is planned as the definitive treatment following stabilization through supportive care. This case underscores the importance of a high index of suspicion, timely genetic testing, and a multidisciplinary approach in managing PFIC2 to optimize patient outcomes.