Imaging findings of Alagille syndrome in young infants: differentiation from biliary atresia.

Objective: To compare the imaging findings using ultrasonography, MR cholangiopancreatography (MRCP), and intraoperative cholangiography (IOC) between Alagille syndrome (AGS) and biliary atresia (BA) in young infants with cholestatic jaundice.

Methods: The institutional review board approved this retrospective study. Ultrasonography (n = 55), MRCP (n = 33), and IOC (n = 22) studies were performed in 55 infants (all younger than 3 months) with AGS (n = 7) and BA (n = 48). The ultrasound images were reviewed focusing on gallbladder (GB) abnormalities, triangular cord sign, hepatic artery enlargement and signs of portal hypertension. Visualization of the extrahepatic biliary tree was assessed by MRCP and IOC.

Results: Six (86%) AGS patients showed a small GB on ultrasound; this was comparable to that in BA patients (81%, 35/43). The images were negative for triangular cord sign and hepatic artery enlargement in all AGS patients, whereas they were positive in 48% (23/48) (p = 0.034) and 77% (33/43) (p < 0.001) of the BA patients, respectively. Signs of portal hypertension were less common in AGS patients than in BA patients (p = 0.010). Although non-visualization of the extrahepatic biliary tree by MRCP did not differ significantly between patients with AGS and BA, AGS patients showed a higher proportion of visible common bile ducts with IOC, compared to BA patients. The diagnosis of AGS was made in four infants (57%) before ultrasonography, based on extrahepatic manifestations.

Conclusion: The small GB visualized on ultrasonography and non-visualization of extrahepatic biliary tree by MRCP commonly occurred in patients with either AGS or BA. However, triangular cord sign, hepatic artery enlargement and signs of portal hypertension onultrasonography and non-visualized common bile duct with IOC were less frequent in AGS patients than in BA patients. Advances in knowledge: Atypical imaging findings for BA should prompt a meticulous evaluation for the extrahepatic manifestations of AGS to avoid possibly harmful surgery.