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Isolation of Neonatal Extrahepatic Cholangiocytes
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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.

ACG Case Reports Journal
|April 19, 2021
PubMed

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.

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