Case Report: A diagnostic algorithm for pediatric cholelithiasis: recognizing underlying hemolytic anemia through a case of hereditary spherocytosis

Résumé fourni par la source

Pediatric cholelithiasis is increasingly encountered in clinical practice, largely driven by the rising prevalence of obesity. However, chronic hemolytic disorders remain a significant and potentially underrecognized cause, particularly when presenting with mild or compensated forms. In such cases, gallstones may represent the first manifestation of an underlying hematologic condition, posing a diagnostic challenge. We report the case of a 7-year-old girl presenting with abdominal pain, vomiting, and jaundice. Abdominal ultrasound revealed gallbladder distension, biliary sludge, and a gallstone associated with splenomegaly. Within 48 hours, the clinical course rapidly progressed to biliary pancreatitis, requiring endoscopic retrograde cholangiopancreatography with sphincterotomy and stone extraction, followed by elective cholecystectomy three days later. The coexistence of cholelithiasis and splenomegaly raised suspicion of hemolysis, and subsequent investigations led to the diagnosis of hereditary spherocytosis. This case highlights the risk of underdiagnosing congenital hemolytic anemias—particularly in mild or compensated forms—in children presenting with biliary disease, as standard laboratory tests may be misleading. It underscores that pediatric cholelithiasis may represent the initial manifestation of otherwise unrecognized hemolytic disorders. We further propose a practical diagnostic flowchart to facilitate early identification and prompt hematologic referral. The algorithm was produced entirely by us. Early recognition is crucial to prevent complications and optimize long-term outcomes.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.