Choledochal cysts: heterogeneity of clinical presentation

Over a 12-year period, 23 children were diagnosed as having choledochal cysts, of which 22 were type I and one was type II. The triad of right upper-quadrant abdominal pain, right upper-quadrant abdominal mass, and cholestatic jaundice was present in only four of 23 (17%). Mean time from the onset of symptoms to establishing the correct diagnosis was 20 months, and in one child the diagnosis was established only at autopsy. Six children had histologic evidence of biliary cirrhosis, and three developed portal hypertension despite surgical intervention. Both ultrasonography of the abdomen and endoscopic retrograde cholangiopancreatography (ERCP) were useful methods in establishing the diagnosis, but both tests did result in false negatives. Choledochal cysts are treatable causes of cholestatic jaundice in infants and children, but the intermittent and variable nature of their presentation renders clinical diagnosis difficult.