Congenital absence of the portal vein with splenomegaly and hypersplenism in a young woman.

Congenital absence of portal vein (CAPV) with a systemic shunt of enteric blood is a rare malformation. Twenty-seven cases have been reported to date; with the exception of 4 patients all cases had either liver anomalies or cardiac anomalies. CAPV is usually diagnosed before the age of 18 (25/27 cases). Here we present the case of a 33-year-old woman with CAPV without further anomalies. Beside suffering from circumscript scleroderma, splenomegaly and hypersplenism, the patient was otherwise healthy. Diagnosis was based on histological findings, angiography and CT scan. The liver biopsy showed portal tracts with inconspicuous arteries and bile ducts, but with severe loss of portal vein branches and minimal proliferation of bile ductules. In addition, the perivenular sinusoids were slightly dilated with focal parenchymal atrophy. Angiography showed a missing portal vein system and a missing splenic vein with drainage of the enteric blood through dilated perisplenic and perigastric collaterals to the azygos vein system. A CT scan revealed an empty liver hilus without portal vein. Here we discuss clinical aspects of this patient, show radiologic and histopathologic findings, and compare them to other cases in the literature.