Hepatobiliary anomalies associated with polysplenia syndrome

Area of Science:

• Gastroenterology and Hepatology
• Medical Genetics
• Radiology

Background:

• Polysplenia syndrome is a rare congenital disorder characterized by multiple spleens and visceral malformations.
• Associated anomalies often involve the gastrointestinal, cardiovascular, and biliary systems.
• This case presents a unique combination of polysplenia, Crohn's disease, and complex biliary anomalies in an adult.

Observation:

• A 29-year-old woman with polysplenia syndrome presented with right-sided stomach and small bowel, left-sided colon, and Crohn's ileitis.
• Radiographic and echocardiographic findings indicated hypoplasia of the inferior vena cava with azygos continuation.
• The patient underwent surgery for gallstones and bile duct stones, revealing a bilobed liver and centrally located gallbladder.

Findings:

• Intraoperative cholangiography demonstrated a quadruplication of intrahepatic biliary ducts, indicative of biliary tree isomerism.
• This represents the first reported adult case of polysplenia syndrome with cholangiographically confirmed biliary tree isomerism.
• The patient also had Crohn's disease and bilateral cataracts, adding to the complexity of her presentation.

Implications:

• This case underscores the significant variability and complexity of polysplenia syndrome presentations in adults.
• It highlights the critical role of advanced imaging and intraoperative cholangiography in diagnosing intricate biliary anomalies.
• Further research into the genetic and developmental pathways of polysplenia syndrome is warranted to understand associated malformations and improve patient management.