CASE REPORT

A 29-year-old female presented with rectal bleeding. Colonoscopy revealed rectal varicose veins and additional studies were performed. Doppler ultrasound and abdominal computed tomography angiography showed a hypoplastic portal system, with a colateral portosystemic vein in confluence between the superior mesenteric vein and splenic vein, connecting to the left hipogastric vein via its distal end (Fig. 1). Two hepatic hemangiomas were diagnosed via abdominal magnetic resonance imaging (MRI) (Fig. 2). Type II Abernethy syndrome was confirmed based on these findings.

Fig. 1 Computed tomography angiography showing a portosystemic collateral vein. 

Fig. 2 Liver MRI revealed two hepatic hemangiomas in segments 6 and 7. 

DISCUSSION

Abernethy syndrome is a congenital malformation characterized by agenesis or hypoplasia of the portal vein, causing an extrahepatic portosystemic shunt. It is classified in two types according to vascular relations (Table 1).

Table 1 Extrahepatic portosystemic shunt and vascular relations 

Type I is more frequent in females and is usually associated with vascular malformations and hepatic tumors. Type II has no sex predominance and no other malformations have been described. Hepatic encephalophaty and an altered liver profile are the most frequent clinical manifestations. Computed tomography angiography is the main radiological diagnostic test. Type II treatment in oligosymptomatic patients is conservative. Liver transplant is the only treatment described for type I Abernethy syndrome.