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Updated: Jan 25, 2026

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Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations

Maria Fotoulaki1, Styliani Giza2, Milan Jirsa3

  • 1Fourth Department of Pediatrics and mfotoul@otenet.gr.

Pediatrics
|April 25, 2019
PubMed

Insights

This case highlights a rare genetic liver disorder in a child initially misdiagnosed. Molecular analysis revealed compound heterozygous mutations in ABCB11, leading to progressive familial intrahepatic cholestasis type 2.

Area of Science:

  • Hepatology
  • Medical Genetics
  • Pediatric Gastroenterology

Background:

  • Jaundice in children can be challenging to diagnose, with drug-induced liver injury being a common initial consideration.
  • Inherited cholestatic disorders may present with severe conjugated hyperbilirubinemia, mimicking other liver conditions.

Observation:

  • A 27-month-old girl presented with severe conjugated hyperbilirubinemia after cefprozil and homeopathic cantharidin treatment.
  • Liver biopsy showed cholestasis and fibrosis, with absent canalicular gamma-glutamyl transpeptidase but preserved bile salt export pump expression.
  • Genetic analysis identified compound heterozygous mutations in ABCB11, indicating a complex inherited cholestatic disorder.

Findings:

  • The patient harbored a missense mutation (p.Arg1050Cys) linked to benign recurrent intrahepatic cholestasis type 2 and a nonsense mutation (p.Glu1302Ter) linked to progressive familial intrahepatic cholestasis type 2.
  • Despite ursodeoxycholic acid treatment, the patient progressed to cirrhosis within 5 years, necessitating a liver transplant.
  • This case underscores the importance of genetic testing for unexplained cholestasis.

Implications:

  • Accurate diagnosis of inherited cholestatic disorders is crucial for appropriate management and prognosis.
  • Molecular genetic analysis of ABCB11 is essential for identifying patients with progressive familial intrahepatic cholestasis type 2 and benign recurrent intrahepatic cholestasis type 2.
  • Early identification of genetic causes can guide clinical decisions and potentially improve outcomes for children with cholestatic liver disease.

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