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Primary sclerosing cholangitis associated with immunodeficiency
Insights
Primary sclerosing cholangitis (PSC) can occur in immunodeficient children. This case highlights the link between immunodeficiency and PSC, suggesting it as a potential cause.
Area of Science:
- Pediatric Gastroenterology
- Immunology
Background:
- Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease.
- Immunodeficiency is not typically associated with PSC, but warrants further investigation.
Observation:
- An infant presented with poor weight gain, steatorrhea, and hepatomegaly.
- Diagnostic workup revealed cholestatic jaundice, dilated bile ducts, and hepatocellular disease.
Findings:
- Pathologic and roentgenographic findings confirmed primary sclerosing cholangitis (PSC).
- The patient was diagnosed with an underlying immunodeficiency disorder.
Implications:
- Immunodeficiency may play a role in the pathogenesis of PSC in select patients.
- Consider screening immunodeficient children and patients with ulcerative colitis for PSC.
- PSC should be included in the differential diagnosis for pediatric cholestatic jaundice.
Abstract:
An infant, first admitted at the age of 5 months with diarrhea (which was adequately treated with formula), was readmitted at the age of 1 year with poor weight gain, steatorrhea, and hepatomegaly. Liver function test results were compatible with cholestatic jaundice, and hepatobiliary scintigraphy visualized dilated bile ducts and evidence of hepatocellular disease. Exploratory laparotomy, liver biopsy, and cholangiography disclosed pathologic and roentgenographic findings of primary sclerosing cholangitis (PSC). The patient proved to be immunodeficient, pointing to the possible pathogenetic role of immunodeficiency in causing PSC in some patients. It is important to look for the disease in immunodeficient children and in patients with ulcerative colitis, and to consider PSC in the differential diagnosis of cholestatic jaundice.