Because abernethy malformation is a very rare condition, experience with liver transplantation is limited. There are no current published guidelines for followup of ceps. The area containing the village of nethy bridge formerly known as abernethy, highland, within the cairngorms national park. A 17yearold girl with situs ambiguous, hypoplastic right ventricle with a large ventricular septal defect, and severe pulmonary stenosis had undergone kawashima operation 10 years back. Congenital extrahepatic portosystemic shunt abernethy. John abernethy first reported congenital absence of portal vein and congenital mesentericocaval shunt in 1793. Abernethy malformations are a rare collection of congenital hepatic.
Empirical analysis of the vascular anatomy of wibke uller, md, ahmad i. Althoughcongenital extrahepatic portosystemic shunts are increasingly suspected and. Diagnostic accuracy of multislice computed tomography in. Nevertheless, we believe that the large shunt shown on the image is completely intrahepatic. Pdf the abernethy malformationmyriad imaging manifestations. Abernethy definition and meaning collins english dictionary. Lukasz kwapisz, md, malcolm m wells, md frcpc, and bandar aljudaibi, md frcpc. The significance of continued monitoring and longterm followup is clear. It comprises a group of vascular anomalies of the splanchnic venous system and is characterized. Pdf abernethy malformation, also known as congenital extrahepatic portosystemic shunts ceps is a rare clinical. Abernethy malformation is a rare congenital anomaly in which there is direct communication between the portal and systemic venous circulation. Abernethy and kincardine, the former ecclesiastical and. Kylans journey with abernethy malformation global genes.
Abernethy malformation radiology reference article. Abernethy malformation is an abnormal portosystemic shunt that was first described in 1793 as a postmortem finding1. It is commonly associated with multiple congenital anomalies. We have also described various associated anomalies. Abernethy malformation is a very rare congenital vascular malformation defined by diversion. Type i abernethy malformations are associated with hepatocellular carcinoma and hepatoblastoma 3,5,8,11. Abernethy malformation, also called as congenital extrahepatic portosystemic. Abernethy malformation is defined as congenital diversion of portal blood away from the liver by either endtoside or sidetoside shunt. Abernethy malformation in an adult with intermittent. Only 80 cases have been described since the initial discovery, with most patients abernethy malformation is characterized by the congenital diversion of portal blood away from the liver, by either end.
The clinical presentation ranges from asymptomatic with incidental detection on imaging to secondary complications of disease or related to associate anomalies. Abernethy malformation type ii and concurrent nodular. The abernethy malformationmyriad imaging manifestations of a. Abernethy malformation type ib ceps discussion abernethy malformation is a congenital extra hepatic portosystemic shunt ceps that develops between the portomesenteric vasculature and the systemic veins. Our, now almost 17 month old, son was born with congenital heart defects or chd and at two weeks old we found out that he had a complex anatomy, but up until recently we didnt know just how complex it truly was.
Letters to the editor abernethy malformation crosssectional imaging or angiography performed before shunt closure. The patient remains free of hps stigmata after 2 years. Exploiting phenotypic plasticity for the treatment of. Congenital extrahepatic portosystemic shunt ceps or abernethy malformation is a rare condition in which splanchnic venous blood bypasses the liver draining directly into systemic circulation through a congenital shunt.
Only 80 cases have been described since the initial discovery, with most patients facebook page is dedicated to abernethy malformations. The abernethy malformation consists of a congenital extrahepatic portosystemic shunt and is believed to be extremely rare in humans. Alomari, md, msc, portocaval shunts at imaging is paramount for division of vascular and interventional radiol proper classification and treatment. Morgan and superina classified congenital extrahepatic portosystemic shunt cepsh into two types see table table1. Congenital absence of the portal vein associated with focal nodular hyperplasia of the liver and congenital heart disease abernethy malformation. First reported in 1793, abernethy malformations are congenital extrahepatic pss ceps. Patients may develop hepatic encephalopathy he, pulmonary hypertension paht, or liver tumors, among other complications. Prenatal diagnosis of abernethy malformation by three. Although overall a rare malformation, congenital extrahepatic ps shunts are being diagnosed more frequently with the advances in imaging techniques, especially in the perinatal periods following directed screening exercises. The patient totally remains free of hps stigmata 2 years later. Abernethy ps malformation in adulthood, is an even rarer occurrence and may represent a milder disease variant, especially because most of these are. Abernethy type ii malformation occurs more frequently in adulthood and is more common in male patients, is associated with liver dysfunction and encephalopathy.
Single stage endovascular treatment of a type 2 abernethy. Abernethy malformation is defined as congenital diversion of portal blood away from the liver by either endtoside or sidetoside shunt definition 3. Imaging examination is an important method for the diagnosis. Approximately 15% of ceps cases result in hepatic encephalopathy. This is a retrospective analysis of data from nine. It is also an extremely rare cause of chronic lower gastrointestinal bleeding. The potential implications of abnormal portovenous shunting and decreased hepatic portal flow are numerous and potentially serious. Rex shunt as a treatment of type ii abernethy malformation with severe dysplasia of portal vein annals of vascular surgery, vol.
She had significant desaturation because of a large abernethy malformation, with reverse shunting from the inferior caval vein to the portal vein. Abernethy malformation chen guo, yumin zhong, qian wang, liwei hu, xiaohong gu, hong shao, wei wu, jianfeng cao and haisheng qiu abstract background. There are two main types of abernethy malformations that have been described initially devised by g morgan and r superina 6 type i. First, the legend for the t2weighted magnetic resonance mr image shown in figure 5b describes an endtoside congenital anastomosis between the portal vein and ivc inferior vena cava, a finding compatible with type 2 abernethy malformation. Abernethy malformation, also termed congenital portosystemic shunt and congenital absence of portal vein, results from the malformation of the splanchnic venous system and was first described in 1793 by john abernethy. The purpose of this study was to demonstrate manifestations of. It provides information about am and the opportunity to. Children with abernathy malformation can develop hepatopulmonary. Only 11 cases have been reported in the literature so far, including this one and two of our own patients reported recently. The abernethy malformation, as the name suggests, was first described by abernethy and consists of a congenital extrahepatic portosystemic shunt ceps. Congenital extrahepatic portosystemic shunts abernethy. Discussion first reported in 1793 1, abernethy malformations are congenital extrahepatic pss ceps.
Abernethy malformation type ii and concurrent nodular hyperplasia in a rare female case. Type i malformations are thought to occur only in females, while type ii have a male predominance 1 pathology subtypes. Abernethy forest, a forest and national nature reserve within the area. Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. The abernethy malformation congenital extrahepatic portosystemic shunt ceps is a rare entity that most often presents in the pediatric population but may go unidentified until adulthood, as in this case. Congenital extrahepatic portosystemic shunt is a rare congenital anomaly that was first described by john abernethy in 1793 at autopsy of a 10monthold infant who died of unknown cause. Abernethy malformation is a rare congenital abnormality. Abernethy malformation or congenital extrahepatic portosystemic shunt ceps as the. Abernethy nbr railway station, a former railway station in this village. We present a 33year old female presenting with a 20year history of intermittent hematochezia with multiple blood transfusion. The malformation is further classified on the presence or absence mesenteric blood flow to the hepatic parenchyma.
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