A Diagnostic Quagmire: PFIC5 Presenting as a Rare Cause of Neonatal Cholestasis.

Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive disorders defined by defects in bile excretion and transport. We describe a 6-week-old boy from Micronesia presenting with failure to thrive and jaundice. His diagnostic workup was remarkable for direct hyperbilirubinemia, hepatitis, and hepatic ultrasound with possible portosystemic shunting.