Symptomatic Cholelithiasis as the Presentation of Pediatric Primary Sclerosing Cholangitis - Case Series and Literature Review

Abstract

BACKGROUND: Primary sclerosing cholangitis (PSC) is a rare hepatobiliary disorder, whose etiology remains not fully elucidated. Given how rare PSC is in childhood, until the recent publication of a multicenter international collaboration, even data on its characteristics and natural history were scarce. Symptomatic cholelithiasis has not been previously reported as the presentation of PSC. OBJECTIVE: The aim of this study was the diagnosis of PSC following the initial unusual presentation with symptomatic cholelithiasis, that followed an atypical clinical course that could not be explained by cholelithiasis alone. A literature review was also conducted. METHODS: We conducted a retrospective chart review of three patients, who were diagnosed and/or followed at the Clinics Hospital, University of Campinas - Sao Paulo/ Brazil, between 2014 and 2020. Data analyzed included gender, age of presentation, past medical history, imaging findings, laboratory results, endoscopic evaluation, response to medical therapy and follow-up. RESULTS: Age at time of presentation with cholelithiasis varied from 10 to 12 years. In two of the cases reported, a more subacute onset of symptoms preceded the episode of cholelithiasis. Two patients were managed with cholecystectomy, not followed by any surgical complications, one patient was managed conservatively. Percutaneous liver biopsy was performed in all three cases, showing histological findings compatible with PSC. Associated inflammatory bowel disease (IBD) was not seen in any of the patients. The patients have been followed for a mean time of 3.4 years. CONCLUSION: PSC and cholelithiasis are both rare in the pediatric population. This study reports on symptomatic cholelithiasis as a presentation of PSC and raises the importance of suspecting an underlying hepatobiliary disorder in children with cholelithiasis without any known predisposing factors and/or that follow an atypical clinical course for cholelithiasis alone.

The Etiology of Cholelithiasis in Children and Adolescents—A Literature Review

“…The incidence of gallstone disease in children is influenced by both genetic and environmental factors, such as exposure to certain drugs, e.g., ceftriaxone or octreotide. In addition, the presence of predisposing diseases can contribute to the formation of gallstones (such as primary sclerosing cholangitis [ 66 ], Wilson disease [ 67 ], renal stones [ 68 ], congenital nephrotic syndrome [ 69 ], hypothyroidism [ 70 ], Down syndrome [ 71 , 72 ], cystic fibrosis [ 73 ], Gaucher disease [ 74 , 75 ]). In recent years, there have been many studies on gallstone disease in children.…”