Cystic biliary atresia with congenital absence of portal vein

Area of Science:

• Pediatric Surgery
• Hepatobiliary Medicine
• Congenital Anomalies

Background:

• Biliary atresia is a rare neonatal condition affecting bile ducts.
• Congenital absence of the portal vein is an extremely rare vascular anomaly.
• Combined presentation of these conditions is exceptionally uncommon.

Observation:

• A 126-day-old female infant presented with persistent jaundice since the first week of life.
• Clinical examination revealed jaundice and hepatosplenomegaly.
• Radiological imaging demonstrated multiple intrahepatic and three extrahepatic biliary cysts, absence of the gallbladder, and absence of the portal vein.

Findings:

• Surgical exploration confirmed the presence of biliary cysts and the absence of the gallbladder and portal vein.
• This case represents cystic biliary atresia associated with congenital absence of the portal vein.
• This is the first reported instance of this specific combination of anomalies.

Implications:

• This case expands the spectrum of known biliary atresia presentations.
• Understanding this rare association may inform diagnostic and management strategies for complex pediatric hepatobiliary disorders.
• Highlights the importance of comprehensive vascular assessment in infants with biliary anomalies.