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Isolation of Neonatal Extrahepatic Cholangiocytes
Published on: June 5, 2014
A Diagnostic Quagmire: PFIC5 Presenting as a Rare Cause of Neonatal Cholestasis
Sophia Giang1, Ruth Lillian Gordon2, Kelly B Haas3
1Davis Department of Pediatrics, University of California-Davis, Sacramento, CA.
Insights
Progressive familial intrahepatic cholestasis type 5 is a rare genetic disorder causing neonatal cholestasis. This case highlights its presentation in a Micronesian infant, emphasizing diagnostic challenges.
Area of Science:
- Hepatology
- Genetics
- Pediatric Gastroenterology
Background:
- Progressive familial intrahepatic cholestasis (PFIC) comprises inherited disorders of bile excretion.
- These conditions are characterized by defects in bile salt transport and excretion.
Observation:
- A 6-week-old Micronesian infant presented with failure to thrive and jaundice.
- Initial workup revealed direct hyperbilirubinemia, hepatitis, and possible portosystemic shunting.
- Congenital toxoplasmosis was initially suspected due to positive toxoplasma IgG.
Findings:
- Liver histology showed an absence of bile salt export pump (BSEP) staining.
- Genetic studies confirmed the diagnosis of progressive familial intrahepatic cholestasis type 5 (PFIC5).
- PFIC5 is an exceptionally rare cause of neonatal cholestasis.
Implications:
- This case underscores the importance of considering rare genetic disorders in neonatal cholestasis.
- Accurate diagnosis of PFIC5 is crucial for appropriate management and genetic counseling.
- Early identification of PFIC5 can prevent severe liver damage and improve patient outcomes.
Abstract:
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. The presence of toxoplasma IgG initially raised concern for congenital toxoplasmosis. Ultimately, the absence of bile salt export pump staining on liver histology and subsequent genetic studies confirmed a diagnosis of progressive familial intrahepatic cholestasis type 5, an exceedingly rare cause of neonatal cholestasis.
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