Primary sclerosing cholangitis in a child

Area of Science:

• Pediatric Gastroenterology and Hepatology
• Rare Disease Research
• Cholestatic Liver Diseases

Background:

• Primary sclerosing cholangitis (PSC) is a rare, chronic cholestatic liver disease with unknown etiology.
• PSC has not been previously described in the pediatric population of Taiwan.
• Early diagnosis and effective treatment strategies for pediatric PSC are crucial.

Observation:

• A 4-year-old girl presented with prolonged fever, eosinophilia, hepatomegaly, and significantly elevated liver enzymes (alkaline phosphatase and gamma-glutamyl transpeptidase).
• Diagnostic investigations, including ERCP and liver biopsy, confirmed the diagnosis of PSC.
• The patient exhibited a unique presentation for PSC in Taiwanese children.

Findings:

• Treatment with low-dose prednisolone and ursodeoxycholic acid for 32 months led to clinical remission.
• Disease progression was halted with the combined therapeutic approach.
• This case highlights the potential efficacy of combined therapy in pediatric PSC.

Implications:

• A high index of suspicion is essential for diagnosing PSC in children presenting with chronic liver disease.
• The findings suggest that prednisolone and ursodeoxycholic acid combination therapy may be a viable treatment option for pediatric PSC.
• Further clinical trials are warranted to validate the efficacy and safety of this combined therapy in a larger pediatric cohort.