P3C066: When “adult” Illnesses Present in Childhood: A Case of Pediatric Primary Sclerosing Cholangitis

Introduction: Primary sclerosing cholangitis (PSC) is a rare and chronic inflammatory disease of the intra- and extrahepatic bile ducts. With median age of 41 at diagnosis, its incidence in adults is estimated to be roughly five times that of children and is thus frequently omitted from pediatric differential diagnoses. Children with PSC also often lack characteristic findings seen in adults, further complicating evaluation.

Case Description: A 14-year-old male with a history of neonatal jaundice, seizures, and non-verbal autism spectrum disorder (ASD) presents with one day of jaundice and loose stools. He is unable to answer questions, but parents deny any vomiting, fevers, lethargy, changes in behavior, sick contacts, or previous jaundice with illness/stress. His family history is significant for biliary disease requiring cholecystectomy in both parents and negative for autoimmune disease.

On exam, he is ill-appearing and jaundiced from his face to lower extremities. All vital signs are within normal limits for age. His abdominal exam is benign without tenderness, guarding, or hepatomegaly.

A point-of-care ultrasound shows cholelithiasis with dilation of the common bile duct (CBD) to 1.44 cm. He has mild anemia and hypoalbuminemia without leukocytosis. There are elevations in erythrocyte sedimentation rate, fecal calprotectin, IgM, and transaminases with direct bilirubin >14mg/dL (0.1-0.3). Endoscopic retrograde cholangiopancreatography (ERCP) shows an obstructing stone in the CBD and dilation of extra- and intrahepatic ducts (Figure 1). After stone removal, total bilirubin remains high at 25 mg/dL (0.0-1.2), though transaminases normalize. Panels for infectious and autoimmune etiologies are negative, including anti-neutrophil cytoplasmic antibodies (ANCA). A genetic panel shows he is a carrier of multiple variants associated with cholestatic disease.

Repeat ERCP shows beading of the biliary tree (Figure 2). A liver biopsy shows chronic inflammation and cholestasis.

Discussion: Persistently elevated bilirubin and classic beaded appearance of the biliary tree is diagnostic for PSC. Inflammatory bowel disease (IBD) is considered due its link to PSC and the patient’s loose stools, anemia, hypoalbuminemia, and elevated ESR/fecal calprotectin; the patient is unable to report subjective gastrointestinal symptoms but is currently scheduled for follow-up and endoscopic evaluation with pediatric gastroenterology. He is discharged with ursodiol, hydroxyzine, and follow-up instructions.

Conclusion: Presentation of classically “adult” pathologies in childhood creates a diagnostic challenge for many reasons, including lower prevalence, nonspecific symptoms, and a lack of characteristic findings, delaying diagnosis and increasing risk of morbidity and mortality. Evaluation of children, in general, is complicated by differences in age, insight, and cognitive status, presenting significant barriers to care. All were true of our patient, who lacked common adult PSC findings including pruritis, “onion-skin” fibrosis, and ANCA, compounded by communication difficulties due to non-verbal ASD. Extra care must be taken with these patients as delays in diagnosis are more likely to occur, leading to more severe complications.