Percutaneous sequential closure of an Abernethy malformation: A case report.

Abernethy malformation (congenital extrahepatic portosystemic shunt [CEPS]) is rare and is characterized by an aberrant connection between the portal and systemic veins, bypassing the liver. It can have varying presentations and can lead to severe complications if left untreated. It is usually diagnosed incidentally on abdominal imaging. Occlusion venography and measurement of portal pressures (pre- and postocclusion) is an important step in management. Complete occlusion of the malformation in cases where the portal veins in the liver are very small and the gradient is more than 10 mm Hg, can potentially lead to acute portal hypertensive complications, such as porto-mesenteric thrombosis. We report a case of Abernethy malformation diagnosed on an abdominal computed tomography scan that presented with neurological symptoms and was successfully managed by interventional radiology via endovascular closure through placement and sequential occlusion of 2 metal stents.

Research advances in congenital extrahepatic portosystemic shunt / 临床肝胆病杂志

Congenital extrahepatic portosystemic shunt (CEPS) is also called Abernethy malformation, with the manifestation of congenital abnormal anastomosis between the portal vein and the inferior vena cava. CEPS is extremely rare in clinical practice and has diverse clinical symptoms, which often leads to missed diagnosis and misdiagnosis. This article reviews the pathogenesis, classification, clinical manifestation, diagnosis, and treatment of CEPS, so as to improve the awareness of this disease and provide a reference for further standardization of its diagnosis and treatment process in the future.

A rare Abernethy Ib malformation was initially misdiagnosed as chronic portal vein thrombosis in a 27-year-old female.

Abernethy malformation or congenital portosystemic shunt is a rare congenital vascular malformation and anomaly of the splanchnic venous system defined by diverting portal blood away from the liver. It is commonly associated with multiple congenital anomalies. Imaging modalities such as computed tomography or magnetic resonance have a crucial role in prompting diagnosis and determining the prognosis based on the type of malformation and associated anomalies. Misdiagnosis could be harmful and may lead to inappropriate treatment. We present a case of Abernethy malformation with a complete end-to-side shunt of portal venous flow into the systemic venous flow and complete bypass of the liver, which was initially misdiagnosed with portal venous thrombosis.

Intercostal thoracotomy for surgical attenuation of portoazygos extrahepatic portosystemic shunts in three dogs: surgical technique and short-term outcomes.

CASE HISTORIES: The medical records of three dogs, presenting to the surgery department at a tertiary private referral hospital (Cork, Republic of Ireland), were retrospectively reviewed. The patients presented for investigation of a 3-day history of progressive lethargy, decreased appetite and hindlimb weakness (Case 1); brachycephalic obstructive airway syndrome (BOAS) and the development of abnormal licking behaviours (Case 2); and a 2-month history of increased thirst with elevated alanine aminotransferase (ALT) activity in serum (Case 3). CLINICAL FINDINGS: Case 1 presented with tachycardia, hindlimb paraparesis and neck pain, while Case 2 presented with facial conformation abnormalities consistent with BOAS. General physical examination and neurological assessment were within normal limits for Case 3. Baseline serum biochemistry measurements, in all three patients, indicated elevated activities of ALT and alkaline phosphatase, as well as elevated concentrations of resting bile acids (BA), suggestive of an extrahepatic portosystemic shunt. Abdominal computed tomography (CT) angiography was performed for each dog, which revealed the presence of a portoazygos shunt (PAS) with final insertion into the caudal azygos vein within the thorax. TREATMENT AND OUTCOME: Abdominal CT angiography images were used for surgical planning and a right-sided intercostal thoracotomy was performed. The location of the thoracotomy was patient-specific and located cranial to the diaphragm, either at the point of PAS insertion into the azygos vein or one rib-space caudal to the insertion, as determined by pre-operative CT images. The intercostal thoracotomy provided good visualisation of the PAS and an appropriate surgical field for placement of a thin film band around the PAS. No surgical complications or post-attenuation seizures were observed. All patients appeared comfortable on oral analgesia and were discharged from the hospital by 48 hours after surgery. All patients demonstrated a clinical improvement when reassessed 6-8 weeks after surgery, and Cases 2 and 3 demonstrated a reduction of resting BA concentrations to within normal limits. The third patient (Case 1) had a considerable reduction in the concentration of resting BA from >140 µmol/L to 20 µmol/L (reference range 0-10 µmol/L) 6-8 weeks after surgery. CLINICAL RELEVANCE: A right-sided intercostal thoracotomy can be considered for surgical management of PAS in dogs. While both intraoperative and short-term results appear promising, further prospective studies are required before this approach can be recommended as the preferred approach for PAS attenuation.Abbreviations: ALP: Alkaline phosphatase; ALT: Alanine aminotransferase; BA: Bile acids; BOAS: Brachycephalic obstructive airway syndrome; CBC: Complete blood count; CT: Computed tomography; EHPSS: Extrahepatic portosystemic shunt; GLDH: Glutamate dehydrogenase; PAS: Portoazygos shunt.

A rare presentation of type II Abernethy malformation and nephrotic syndrome: Case report and review.

Type II Abernethy malformation is an extremely reported congenital extrahepatic portosystemic shunt in complication with nephrotic syndrome. We present the case of an 8-year-old boy who presented with symptoms of type II Abernethy malformation and nephrotic syndrome. This diagnosis of this type II Abernethy malformation was based on physical examination, blood tests, urinalysis, nephrotic and hepatic function tests, routine clinical lipid measurements, abdominal ultrasonography, and computed tomographic angiography. A kidney biopsy revealed the pathological features of nephrotic syndrome. This is the second reported patient diagnosed with type II Abernethy malformation and nephrotic syndrome. Captopril treatment was effective in improving the symptoms of this case. A patient with type II Abernethy malformation related to immune complex-mediated glomerular injury was effectively improved with medication. Type II Abernethy malformation is a causative factor of immune complex-mediated glomerular injury in nephrotic syndrome. Captopril treatment significantly improved the symptoms in this case.

Surgical shunt ligation for a congenital extrahepatic portosystemic shunt with pulmonary hypertension: A case report.

INTRODUCTION AND IMPORTANCE: Congenital extrahepatic portosystemic shunt (CEPS) presents with various symptoms due to abnormal communication between the portal venous system and inferior vena cava. And Klippel-Trenaunay-Weber syndrome is another rare congenital disorder characterized by vascular malformations. CASE PRESENTATION: A 16-year-old male with Klippel-Trenaunay-Weber syndrome was referred to our hospital for surgical treatment of pulmonary hypertension due to CEPS since childhood. Dyspnea had developed about two years before presentation at our hospital and gradually worsened. Right heart catheterization had revealed pulmonary hypertension and a high cardiac output state associated with a portosystemic shunt. Although pulmonary vasodilators improved the dyspnea, pulmonary hypertension remained. The patient was then referred to our hospital for surgical shunt occlusion. The results of the preoperative and intraoperative shunt occlusion tests were within acceptable limits. Therefore, primary shunt ligation was performed. There were no postoperative complications. Continuous intravenous vasodilator was tapered off four months after discharge. No additional or increased doses of medications were required for four years after surgery. CLINICAL DISCUSSION: Surgical shunt ligation for CEPS is effective but can cause acute portal hypertension. Primary shunt ligation could be performed without complications according to the criteria for safe shunt occlusion. CONCLUSION: Surgical portosystemic shunt ligation could be performed safely and ameliorated pulmonary hypertension. Patients with CEPS, especially young patients, should be referred to a tertiary center while asymptomatic, and early therapeutic intervention is necessary.

Multistage closure of a congenital extrahepatic portosystemic shunt.

BACKGROUND: Congenital extrahepatic portosystemic shunts (CEPS) are rare shunts connecting the extrahepatic portal system with the inferior vena cava. Shunt dimensions and the risk of portal hypertension determines the closure strategy. Endovascular treatment is indicated for single stage occlusion of longer length shunts, whereas the remaining shunt types are preferentially surgically occluded. Herein we describe the technical details of a novel endovascular treatment for short length CEPS. CASE PRESENTATION: A 15-years-old male with a short length CEPS complicated with multinodular liver disease was submitted to a multistage closure, as indicated by the high portal pressure values during shunt balloon occlusion venography. Initially a transjugular intrahepatic portosystemic shunt (TIPS) was created and the CEPS occluded with an atrial septal defect occluder. In a second procedure the TIPS was embolized with a flow reductor stent and an amplatzer vascular plug II. At a 1 year follow up the liver nodules size reduced, the patient remains asymptomatic, and the shunt adequately closed. CONCLUSION: This paper outlines the potential use of a TIPS and an atrial septal defect occluder combination in complex CEPS, supporting its usage as an alternative to the standard surgical treatment. LEVEL OF EVIDENCE: Level 4, Case report.

Case Report: Membranoproliferative Glomerulonephritis, a Rare Clinical Manifestation of Abernethy Malformation Type II.

This report describes an 8-year-old male who presented with clinical manifestations including systemic edema, heavy proteinuria, hypoproteinemia, and persistent hypocomplementemia. Arachnoid cysts and focal nodular hyperplasia were also detected. Imaging examination and renal biopsy were performed, and Abernethy malformation type II with immune complex-mediated membranoproliferative glomerulonephritis was considered the diagnosis. Due to the persistence of embryonic vessels, Abernethy malformation is a rare congenital vascular malformation of the splanchnic venous system, which can be classified as type I (end-to-side shunt) and type II (side-to-side shunt). Abernethy malformation with glomerulonephritis remains extremely rare. In the patient described, glomerulonephritis mediated by immune complex with "full-house" positive immunohistochemistry was confirmed on renal biopsy. In addition, he was treated with glucocorticoids and tacrolimus. Whether surgical treatment is necessary should be determined according to the state of the disease in the later stages. The present case reflects the association between the congenital portosystemic shunt and the renal region and, to the authors' knowledge, may be the first report to describe arachnoid cysts as a symptom of Abernethy malformation.

An Adult Case of Congenital Extrahepatic Portosystemic Shunt Successfully Treated with Balloon-occluded Retrograde Transvenous Obliteration.

A 42-year-old woman visited our hospital due to syncope. Contrast-enhanced CT revealed portosystemic shunt, portal vein hypoplasia, and multiple liver nodules. The histological examination of a liver biopsy specimen exhibited portal vein hypoplasia and revealed that the liver tumor was positive for glutamine synthetase. The patient was therefore diagnosed with congenital extrahepatic portosystemic shunt type II, and with focal nodular hyperplasia (FNH)-like nodules. She had the complication of severe portopulmonary hypertension and underwent complete shunt closure by balloon-occluded retrograde transvenous obliteration (B-RTO). The intrahepatic portal vein was well developed at 1 year after B-RTO, and multiple liver nodules completely regressed. Her pulmonary hypertension also improved.

Case Report: A Rare Syncope Case Caused by Abernethy II and a Review of the Literature.

Background: Abernethy malformation is an extremely rare anomaly of the splanchnic venous system, and only 2 cases that manifested as syncope had been reported previously. Case Presentation: A 24-year-old male had a 15-year history of jaundice and was in long-term use of hepatoprotective drugs. He was admitted for complaint of syncope. He underwent a series of examinations and cardiac ultrasound showed that his pulmonary artery pressure was elevated. Further imaging revealed the absence of intrahepatic portal veins. His blood ammonia was significantly increased. All signs and symptoms pointed to an Abernethy diagnosis. He was finally diagnosed as having Abernethy type II. He was discharged after 17 days of in-hospital treatment with sildenafil (50 mg/day) and ornithine aspartate (20 g/day). Conclusion: We now report this rare case of syncope that is caused by Abernethy malformation. As a typically pediatric disease, it was not identified in this patient until adulthood due to long-term treatment for jaundice and liver cirrhosis. Furthermore, we present a review of portosystemic shunts previously reported in the literature.

Case Report: Hepatic Adenoma in a Child With a Congenital Extrahepatic Portosystemic Shunt.

Congenital extrahepatic portosystemic shunts (CEPS), previously also described as Abernethy malformations, are rare malformations in which the extrahepatic portal system directly communicates with the vena cava inferior, thereby bypassing the liver. A hypoplastic portal vein (PV) exists in most cases. CEPS have been associated with the development of liver nodules, ranging from mostly focal nodular hyperplasia (FNH) to hepatic adenoma (HA) and even hepatocellular carcinoma (HCC). Tumor development in CEPS may be due to changes in perfusion pressures, oxygen supply or endocrine imbalances. It is important to rule out CEPS in children with liver tumors, because resection could impede future shunt occlusion procedures, and benign masses may regress after shunt occlusion. Here, we review the case of a 9-years-old male with CEPS and hepatic nuclear Factor 1-alpha (HNF-1-alpha) inactivated HA to raise awareness of this condition and review histopathological changes in the liver of CEPS.

A basic understanding of congenital extrahepatic portosystemic shunt: incidence, mechanism, complications, diagnosis, and treatment.

Extrahepatic portosystemic shunt belongs to a family of rare vascular abnormalities. The clinical importance and manifestations of this vascular abnormality range from asymptomatic cases to liver or metabolic dysfunctions of various degrees. Congenital extrahepatic portosystemic shunt, also termed as Abernethy malformation, is a very rare congenital vascular malformation in which splenomesenteric blood drains into a systemic vein, bypassing the liver through a complete or partial extrahepatic shunt. So far, limited cases of congenital extrahepatic portosystemic shunt have been reported. In this review, incidence, mechanisms, complications, diagnoses and treatments of congenital extrahepatic portosystemic shunt are described.

Living-donor liver transplantation for Abernethy malformation - case report and review of literature.

Abernethy malformation was named for the rare congenital absence of the portal vein (CAPV), also known as congenital extrahepatic portal-systemic shunts (CEPS). This could be classified as complete (type 1) or incomplete shunt (type 2) according to Morgan-Superina classification. Its presentation may show under variable signs and symptoms such as hepatopulmonary syndrome, hyper-ammonia, hepatic masses and liver failure…. This usually combined with other congenital anomalies (cardiac anomaly, trisomy…). This report presented a 10 year-old boy with growth retardation and mild mental recognition, intermittent hyperammonia, elevated liver enzymes, huge inoperable mass in the right liver. MS CT and MRI findings: hyperplasia of liver parenchyma with superior mesenteric vein confluenced with splenic vein before draining directly into the inferior vena cava (Abernethy anomaly type 1b). Living donor liver transplantation underwent using right lobe from his mother. Anatomopathology findings of the native liver showed chronic hepatitis with cirrhosis 4/6 Knodel-Ishak. Postoperatively, the patient still attained optimal liver function and has returned to normal life at 12-month follow-up. Liver transplantation was a reasonable indication for CAPV type 1. Living donor liver transplantation was effective and practical in the scarcity of donor organ.

Congenital extrahepatic portosystemic shunt (Abernethy malformation) treated with surgical shunt ligation: A case report and literature review.

INTRODUCTION: Congenital extrahepatic portosystemic shunt is also known as Abernethy malformation. It is a rare anomaly of the portal venous system where partial or complete portal blood flow drains directly into the systemic vein via this abnormal shunt, bypassing the liver. Occasionally, this condition is incidentally detected on imaging studies performed for other indications. An early diagnosis is challenging due to the lack of specific symptoms-often leading to delayed diagnosis and development of subsequent complications. PRESENTATION OF CASE: A 4-year-old boy presented with multiple cutaneous hemangiomas with concomitant splenomegaly. While the diagnostic work-up for the definite cause of splenomegaly was in progress, an Abernethy malformation was incidentally noted by abdominal ultrasonography. After computerized tomography (CT) imaging confirmed the diagnosis, the patient underwent a successful surgical shunt ligation without any complications through a one-year follow-up period. DISCUSSION: Various imaging studies, including Doppler ultrasonography, CT imaging, and Magnetic Resonance Imaging (MRI), are useful tools to diagnose an Abernethy malformation. Preoperative angiography with a balloon occlusion of the shunt is highly recommended in order to opt for the most appropriate intervention-including one-or-two-step surgical closure, endovascular occlusion, and liver transplantation. CONCLUSION: An Abernethy malformation should be considered in the differential diagnosis of unexplained portal hypertension or any of its associated complications in pediatric patients. Early diagnosis and proper management of this condition can lead to a favorable prognosis, as in this case. Accordingly, a pre-operative evaluation is important to determine the proper therapeutic method.

Abernethy malformation: Our experience from a tertiary cardiac care center and review of literature.

Abernethy malformation, also called as congenital extrahepatic portosystemic venous shunt, is a rare anomaly involving the portal venous system. Although rare, it is increasingly being reported and is important to diagnose given the adverse clinical consequences in untreated patients. It has myriad of clinical presentations, from being completely asymptomatic to causing hepatic carcinoma, hepatic encephalopathy, severe pulmonary hypertension, and diffuse pulmonary arteriovenous malformation. We describe our experience with five cases in a tertiary pediatric cardiac care center with Abernethy malformation, with review of literature and also discuss possible therapeutic implications.

Role of interventional radiology in the diagnosis and management of congenital extrahepatic portosystemic shunts: Two case reports.

Congenital extrahepatic portosystemic shunt (CEPS) is a rare splanchnic venous malformation, wherein the portal venous outflow drains into the systemic venous circulation via a pathologic shunt. CEPS exhibits heterogeneous clinical behavior and angiography is the gold standard for evaluation of the portomesenteric communication to systemic vasculature. The potential severity of complications necessitates shunt closure. Here, we present two cases of CEPS. The first patient presented with an asymptomatic hyperammonemia and was found to have a Type 1 CEPS with absence of intrahepatic portal system. The second patient was asymptomatic and was incidentally found to have a Type 2 CEPS on imaging with normal intrahepatic portal system. Both patients were successfully treated with endovascular occlusion of the CEPS.

Type I congenital extrahepatic portosystemic shunt treated by orthotopic liver transplantation: A case report.

BACKGROUND: Congenital extrahepatic portosystemic shunt, also known as Abernethy deformation, is a rare malformation caused by dysplasia in the portal vein system. There are few reports of liver transplantation as a treatment for Abernethy deformation, and our report is the first case in China. This is the second reported case with congenital extrahepatic portosystemic shunt combined with focal nodular hyperplasia and hepatopulmonary treated with liver transplantation. CASE SUMMARY: The patient was a 14-year-old girl, diagnosed preoperatively as type Ib Abernethy deformation, intrahepatic multiple space-occupying lesion, and hepatopulmonary syndrome. The patient recovered well after undergoing classic orthotopic liver transplantation. Liver function, pulmonary function, and portal vein computed tomography angiography imaging were reexamined 20 mo postoperatively, and no abnormality was observed. CONCLUSION: Liver transplantation is an effective treatment for type I Abernethy deformation combined with focal nodular hyperplasia and hepatopulmonary syndrome.

The Characteristics and Outcomes of Abernethy Syndrome in Korean Children: A Single Center Study.

PURPOSE: Abernethy malformation is a rare condition, which was first described in 1793 as a congenital extrahepatic porto-systemic shunt (CEPS) directing splanchnic blood flow into the inferior vena cava. Eighty cases have been published so far that reported CEPS, while in Korea, very few cases have been reported. Through this study, we present 6 cases of patients diagnosed with CEPS at Samsung Medical Center and compare these with other such cases published in France and China. METHODS: We reviewed clinical, laboratory, and imaging data of 6 children with CEPS in our pediatric clinic between 2004 and 2017. RESULTS: A total of 6 children with CEPS was included in this study, namely, one with type 1a, two with type 1b, and three with type 2 CEPS. The most common presenting symptom was gastrointestinal bleeding (50.0%). Therapeutic interventions included shunting vessel ligation (16.7%) in type 2 CEPS and liver transplantation (16.7%) in type 2 CEPS patient with suddenly developed hepatic encephalopathy. CONCLUSION: There is no consensus guideline for the optimal management of patients with CEPS. Large-sample studies regarding CEPS are needed to evaluate the characteristics of patients with CEPS and determine the treatment guideline for CEPS.

Congenital extrahepatic portosystemic shunt: description of four cases and review of the literature.

Congenital extrahepatic portosystemic shunt (CEPS), also known as Abernethy malformation, is a rare condition in which the splenomesenteric blood drains directly into a systemic vein, bypassing the liver through a complete or partial shunt. The diagnosis is frequently made during childhood in the setting of neonatal cholestasis, hypergalactosemia, failure to thrive, mental retardation or other congenital defects. In adulthood, CEPS is usually found incidentally during diagnostic work-up for abdominal pain, liver test abnormalities, liver nodules, portopulmonary hypertension, portopulmonary syndrome or portosystemic encephalopathy. The diagnosis depends on imaging and portal venography, but sometimes only liver biopsy can be resolutive, demonstrating the absence of venules within the portal areas. Here we report four recent cases of Abernethy malformation diagnosed in young adults, in which ultrasound (US) was the initial imaging technique and allowed to suspect the diagnosis. Furthermore, we reviewed clinical presentations, associated anomalies and treatment of the 310 cases of CEPS previously reported in the literature.