Background: A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy.
Objective: To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature.
Materials and methods: The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed.
Results: Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver ( n=25), cardiac anomalies ( n=19), portosystemic encephalopathy ( n=10), polysplenia ( n=9), biliary atresia ( n=7), skeletal anomalies ( n=5), and renal tract anomalies ( n=4).
Conclusion: MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested.