Abstract
In this article we report a case of Abernethy malformation, also known as congenital extrahepatic portosystemic shunt (CEPS). It is a rare vascular malformation in which the portal vein drains into a systemic vein, diverting it from its normal path to the liver. The clinical presentation is variable and most commonly the shunt is diagnosed during the propaedeutic for investigation of the symptoms. Discussion and diagnosis: R.B.S.R, 21 years old, male, with history of liver disease and previous diagnosis of multiple liver adenomatosis from 9 years of age, was hospitalized for pre-transplant liver evaluation. In the medical history, he presented delayed neuropsychomotor development, congenital scoliosis, neurogenic bladder and single kidney, and had also undergone two surgeries. His initial laboratory tests showed increased transaminases and canalicular enzymes. Ultrasonography, radiography, computed tomography (CT) and magnetic resonance imaging (MRI) were performed, which enabled us to identify and confirm important points for diagnosis. Conclusions: It is important that the radiologist recognize the findings early. CT and MRI are fundamental in the management of the syndrome, since they provide the information for diagnosis, planning, intervention and follow-up, as well as the identification of complications.
Highlights
Described first by the surgeon John Abernethy in 1793, after performing an autopsy (Figure 1) on a 10-month-old girl that revealed termination of the portal vein (PV) in the inferior vena cava (IVC) at the level of the renal veins (1), the congenital absence of portal vein, is an extremely rare entity.Despite the increase in the number of cases diagnosed, until the moment of publication of this report, just over 300 cases were described throughout the medical literature since its discovery
The Abernethy malformation, known as congenital extra-hepatic portosystemic shunt (CEPS), is a rare vascular malformation in which the portal vein drains into a systemic vein, diverting it from its normal path to the liver
We present a case of Abernethy malformation associated with hepatic adenomatosis and a constellation of findings that has been often described as associated with this syndrome
Summary
Described first by the surgeon John Abernethy in 1793, after performing an autopsy (Figure 1) on a 10-month-old girl that revealed termination of the portal vein (PV) in the inferior vena cava (IVC) at the level of the renal veins (1), the congenital absence of portal vein, (with presence of intra-hepatic or extrahepatic portosystemic shunt) is an extremely rare entity. The Abernethy malformation, known as congenital extra-hepatic portosystemic shunt (CEPS), is a rare vascular malformation in which the portal vein drains into a systemic vein, diverting it from its normal path to the liver. The Abernethy malformation clinical presentation is variable and most commonly the shunt is diagnosed in the propaedeutic for investigation of the symptoms. It is frequently associated with nodular liver lesions and congenital heart defects; it may cause liver dysfunction and hepatic encephalopathy. We present a case of Abernethy malformation associated with hepatic adenomatosis and a constellation of findings that has been often described as associated with this syndrome
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