Early postnatal characteristics and differential diagnosis of choledochal cyst and cystic biliary atresia.

Abstract

Background: Choledochal cysts (CC) and cystic biliary atresia (CBA) present similarly in early infancy but require different treatment approaches. While CC surgery can be delayed until 3-6 months of age in asymptomatic patients, CBA requires intervention within 60 days to prevent cirrhosis.

Aim: To develop a diagnostic model for early differentiation between these conditions.

Methods: A total of 319 patients with hepatic hilar cysts (< 60 days old at surgery) were retrospectively analyzed; these patients were treated at three hospitals between 2011 and 2022. Clinical features including biochemical markers and ultrasonographic measurements were compared between CC (n = 274) and CBA (n = 45) groups. Least absolute shrinkage and selection operator regression identified key diagnostic features, and 11 machine learning models were developed and compared.

Results: The CBA group showed higher levels of total bile acid, total bilirubin, γ-glutamyl transferase, aspartate aminotransferase, and alanine aminotransferase, and direct bilirubin, while longitudinal diameter of the cysts and transverse diameter of the cysts were larger in the CC group. The multilayer perceptron model demonstrated optimal performance with 95.8% accuracy, 92.9% sensitivity, 96.3% specificity, and an area under the curve of 0.990. Decision curve analysis confirmed its clinical utility. Based on the model, we developed user-friendly diagnostic software for clinical implementation.

Conclusion: Our machine learning approach differentiates CC from CBA in early infancy using routinely available clinical parameters. Early accurate diagnosis facilitates timely surgical intervention for CBA cases, potentially improving patient outcomes.