Background: Cholelithiasis is rarely diagnosed in infants and neonates. However, the increasing use of ultrasonography has led to more frequent identification of asymptomatic and symptomatic gallstones in the pediatric population. We report the case of a 7-month-old male infant with hemoglobin E trait who presented with recurrent vomiting and was diagnosed with gallstones. After initial conservative management, he underwent elective cholecystectomy at 11 months of age, with a favorable outcome. This case emphasizes the importance of considering gallstone disease even in very young children, particularly those with hemolytic disorders.
Pediatric cholelithiasis, once considered extremely rare, is now being increasingly recognized. Epidemiological studies suggest that the incidence of gallstones in children is between 0.13% and 0.3%.[1] Gallstones in infants are commonly pigment stones, often associated with hemolytic diseases, infections, total parenteral nutrition, and congenital biliary anomalies. Hemoglobin E trait, although usually benign, may result in intermittent hemolysis that predisposes to pigment stone formation. Early recognition and timely management are critical to avoid complications.[2]
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Cholelithiasis in infants poses a diagnostic challenge due to nonspecific symptoms and low clinical suspicion. The increasing use of ultrasonography in pediatric evaluation has improved early detection. In this case, the presence of Hb E trait, a mild hemoglobinopathy, likely contributed to pigment gallstone formation due to low-grade hemolysis.[3]
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This case underscores the need to maintain a high index of suspicion for cholelithiasis in infants presenting with persistent vomiting and irritability, especially with hemolytic disorders like Hb E trait. Timely diagnosis, appropriate conservative management, and elective cholecystectomy led to a complete recovery in this case. Pediatric surgeons and pediatricians must remain vigilant for atypical presentations of gallstones in infants.