Diagnostic approach to hepatic vascular lesions: a paediatric perspective.

The pathological evaluation of hepatic vascular lesions in children requires special consideration. Inconsistent terminology, rarity of pathology specimens and overlapping pathological features between various lesions may pose a serious diagnostic challenge. In this review, we highlight the importance of using the International Society for the Study of Vascular Anomalies (ISSVA) classification scheme to characterise these lesions. Selected entities are discussed, including hepatic vascular tumours exclusively seen in the paediatric age group, hepatic infantile haemangioma and hepatic congenital haemangioma. Vascular malformations, with emphasis on their syndromic associations (venous malformation in blue rubber bleb naevus syndrome) and complications (hepatocellular nodules in Abernethy malformation) are also covered.

Trans-catheter closure of an unusual type of Abernethy malformation in a child presenting with severe pulmonary hypertension.

Abernethy malformation is a congenital extra-hepatic porto-systemic shunt. This malformation is characterized by an abnormal connection between the portal vein or its branches and one of the systemic veins. Though rare, this anomaly can lead to pulmonary hypertension. Drainage of Abernethy malformation into coronary sinus is extremely rare. We describe a child with Abernethy malformation with unusual drainage into coronary sinus. The abnormal channel was successfully closed by trans-catheter technique with normalisation of pulmonary arterial pressures.

Hepatocellular Adenoma: Report of 2 Cases That Highlight the Relevance of Phenotype-Genotype Correlation in the Pediatric Population.

BACKGROUND: Hepatocellular adenoma (HCA) in the pediatric population is very rare and there are only limited studies, especially with molecular characterization of the tumors. Main HCA subtypes recognized in the current WHO classification include HNF1A-inactivated HCA (H-HCA), inflammatory HCA (IHCA), ß-catenin-activated HCA (b-HCA), and ß-catenin-activated IHCA (b-IHCA) and sonic hedgehog HCA (shHCA) is reported as an emerging subtype. METHODS: Clinical history, pathological information, and molecular studies for a series of 2 cases of pediatric HCA were reviewed. RESULTS: Case 1 was a b-HCA characterized by somatic CTNNB1 S45 mutation in a 11-year-old male with Abernethy malformation. Case 2 was a H-HCA characterized by germline HNF1A variant (c.526+1G>A) in a 15-year-old male associated with maturity-onset diabetes of the young type 3 (MODY3). CONCLUSION: Our findings highlight the rarity of these 2 cases associated with adenomatosis, and the contribution of molecular/genetic analysis for proper sub-typing, prognosis and family surveillance.

Abernethy malformation with unusual cardiac malformation: Case report and literature review.

Abernethy malformation, also known as congenital extrahepatic shunt, is a rare anomaly, which is characterized by partial or complete diversion of the portal blood into the systemic venous circulation. The clinical manifestations of Abernethy malformation during childhood include neonatal cholestasis, failure to thrive, mental retardation, and other congenital defects. We report a case of Abernethy malformation Type II in a 9-year-old boy, whose left ventricle was slightly enlarged because of several major aortopulmonary collateral arteries (MAPCAs) but laboratory examinations were normal 5 years earlier. The characteristics of congenital heart disease in patients with Abernethy malformation are discussed. We propose that physicians should be aware of the possibility of Abernethy malformation in children with enlargement of the left ventricular due to systemic-pulmonary collateral circulation.

A new variant of Abernethy malformation treated by transhepatic interventional closure: a case report.

BACKGROUND: Congenital portosystemic shunts (CPSS) are rare vascular malformations and can be classified into extrahepatic and intrahepatic shunts. Extrahepatic CPSS, also termed Abernethy malformations are associated with severe long-term complications including portopulmonary hypertension, liver atrophy, hyperammoniemia and hepatic encephalopathy. We report a hitherto undescribed variant of Abernethy malformation requiring an innovative approach for interventional treatment. CASE PRESENTATION: We describe a 31-year-old patient following surgical repair of atrioventricular septal defect at the age of 6 years. In the long-term follow-up he showed persistent pulmonary hypertension which deteriorated despite dual pulmonary vasodilative treatment. When he developed arterial desaturation and symptomatic hyperammoniemia detailed reassessment revealed as underlying cause a hitherto undescribed variant of Abernethy malformation connecting the portal vein with the right lower pulmonary vein. Following interdisciplinary discussions we opted for an interventional approach. Since the malformation was un-accessible to interventional closure via antegrade venous or retrograde arterial access, a transhepatic percutaneous puncture of the portal vein was performed. Temporary balloon occlusion of the malformation revealed only a slight increase in portal venous pressure. Interventional occlusion of the large vascular connection was achieved via this transhepatic approach by successive implantation of two large vascular occluding devices. The postinterventional course was unremarkable and both ammonia levels and arterial saturation normalized at follow-up of 12 months. CONCLUSIONS: Portal vein anomalies should be included in the differential diagnoses of pulmonary hypertension or pulmonary arterio-venous malformations. Based on careful assessment of the anatomy and testing of portal vein hemodynamics interventional therapy of complex Abernethy malformations can be performed successfully in specialized centers.

Multimodality imaging of Abernethy malformation.

Abernethy malformation, or congenital extrahepatic portosystemic venous shunt, is a rare anomaly involving the portal venous system. Despite its rarity, it is increasingly being reported, and therefore, it is important to diagnose given the potential adverse clinical consequences if left untreated. It has a spectrum of presentations, ranging from complete lack of symptoms, to causing hepatic carcinoma, hepatic encephalopathy, severe pulmonary hypertension, and diffuse pulmonary arteriovenous malformation. We herein describe the case and echocardiographic, computed tomography, and magnetic resonance imaging findings of a transgender individual, with this anomaly detected incidentally during adulthood.

Transcatheter closure of Abernethy malformation associated with interrupted inferior caval vein and other systemic venous anomalies.

Abernethy malformation is a rare entity. We report a 5-year-old boy presenting with severe pulmonary hypertension in whom Abernethy malformation and inferior caval vein interruption were diagnosed by CT angiography. In addition, the iliac veins were thrombosed with multiple venous collateral drainage. This abnormal venous anatomy caused difficulty in device closure of the Abernethy malformation, which was successfully closed using a vascular plug.

Diagnosing pulmonary arteriovenous malformations in the presence of atrial septal defect and anomalous pulmonary venous drainage-An imaging challenge.

Saline contrast echocardiography is a simple and effective method to diagnose the presence and type of right-to-left shunt in patients with unexplained cyanosis. It is considered a very sensitive test to diagnose pulmonary arteriovenous malformations. Our patient presented with unexplained cyanosis and transthoracic echocardiography showed an atrial septal defect and anomalous pulmonary venous drainage of the right and left upper pulmonary veins to the superior venacava. We describe how we used saline contrast echocardiography to demonstrate the presence of pulmonary arteriovenous malformations even in the presence of atrial septal defect and anomalous pulmonary venous drainage.

Pulmonary arterial hypertension caused by congenital extrahepatic portocaval shunt: a case report.

BACKGROUND: Congenital extrahepatic portocaval shunt (CEPS), also known as Abernethy malformation, is an extremely rare anomaly of the splanchnic venous system, especially when accompanied by pulmonary arterial hypertension. CASE PRESENTATION: We report a case of a 15-year-old female who was diagnosed with CEPS (Abernethy type Ib) accompanied by pulmonary arterial hypertension. This case was incidentally identified during abdominal ultrasound examination and confirmed by mesenteric and splenic arteriography. During more than 4 years of follow-up, after receiving sildenafil (80 mg/day), the patient's condition improved in the first year after discharge. However, one year later, the patient's conditions start to deteriorate. CONCLUSION: This article presents a rare case of Abernethy malformation accompanied by pulmonary arterial hypertension, which can be diagnosed by using abdominal ultrasonography, portal vein computed tomography angiography or mesenteric and splenic arteriography. This malformation had limited treatment and poor prognosis.

Diagnostic accuracy of multi-slice computed tomography in children with Abernethy malformation.

BACKGROUND: Abernethy malformation is a rare congenital abnormality. Imaging examination is an important method for the diagnosis. The purpose of this study was to demonstrate manifestations of multi-slice computed tomography (MSCT) in Abernethy malformation and its diagnostic accuracy. METHODS: Fourteen children with Abernethy malformation were admitted to our center in China between July 2011 and January 2018. All 14 patients (eight males and six females) received MSCT and digital subtraction angiography (DSA) while eight patients also received ultrasound. The patients' age ranged from 1 to 14 (median age 8 years old). The clinical records of the patients were retrospectively reviewed. MSCT raw data were transferred to an Advantage Windows 4.2 or 4.6 workstation (General Electric Medical Systems, Waukesha, WI). We compared the findings of MSCT with DSA and surgical results in order to ascertain diagnostic accuracy. RESULTS: Three cases had type Ib Abernethy malformation and eleven cases had type II. Two cases of type II Abernethy malformation were misdiagnosed as type Ib using MSCT. Comparing the findings of MSCT with DSA and surgical results, the accuracy of MSCT was 85.7% (12/14), in which 100.0% (3/3) were type Ib and 81.8% (9/11) were type II. Clinical information included congenital heart disease, pulmonary hypertension, diffuse pulmonary arteriovenous fistula, abnormal liver function, hepatic nodules, elevated blood ammonia, and hepatic encephalopathy. Eleven cases were treated after diagnosis. One patient with Abernethy malformation type Ib (1/3) underwent liver transplantation. Seven patients with Abernethy malformation type II (7/11) were treated by shunt occlusion, received laparoscopy, or were treated with open surgical ligation. Another three patients (3/11) with Abernethy malformation type II were treated by interventional portocaval shunt occlusion under DSA. CONCLUSION: MSCT attains excellent capability in diagnosing type II Abernethy malformation and further shows the location of the portocaval shunt. DSA can help when it is hard to determine diagnosis between Abernethy type Ib and II using MSCT.

Prepared for the Unexpected: Accessory Ovaries with Abernethy Malformation.

Supernumerary and accessory ovaries are collectively coined ectopic ovaries. These are rarely encountered by the benign gynecologist and are often discovered incidentally during evaluation for other gynecologic, gastrointestinal, or urologic pathologies. We report the presentation of a patient with multiple accessory ovaries in addition to a rare congenital anomaly of the splanchnic vasculature called an Abernethy malformation. Incidental identification of ectopic ovaries necessitates a search for additional malformations outside of the genitourinary tract that can have larger implications for long-term health.

A 10-year-old boy with dyspnea and hypoxia: abernathy malformation masquerading as pulmonary arteriovenous fistula.

BACKGROUND: Abernethy malformation is an extremely rare congenital malformation characterised by an extrahepatic portosystemic shunt. Children with Abernathy malformation can develop hepatopulmonary syndrome (HPS) with pulmonary arteriovenous fistulas (PAVF) or pulmonary hypertension. PAVF manifests as central cyanosis with effort intolerance. We report a case of PAVF in a Ten-year-old Boy. Persistent symptoms identified Abernathy malformation as the cause of progressive symptoms and current understanding of this rare malformation is reviewed. CASE PRESENTATION: A case of 10-year-old boy with Abernethy malformation complicated with HPS initially managed as PAVF was presented. Selective lung angiography showed a typical diffuse reticular pattern on right lower lung, which suggested PAVF. However, cyanosis was not improved post transcatheter coil embolization. Then, liver disease was considered although the patient had normal aspartate aminotransferase and alanine aminotransferase. The significantly elevated serum ammonia was attracted our attention. Abdominal computed tomography also exhibited enlarged main portal vein (MPV), cirsoid spleen vein, and superior mesenteric vein (SMV). Angiography with direct opacification of the SMV with a catheter coming from the inferior vena cava (IVC) and going to the SMV via the shunt vessel (SHUNT) between the MPV and IVC. Occlusion the IVC with an inflated balloon, injection of contrast medium via a catheter placed in the SMV, MPV was showed and absence of intrahepatic branches. Abernethy malformation IB type is finally confirmed. CONCLUSIONS: Abernethy malformation is an unusual cause for development of PAVF and cyanosis in children. Clinicians must be suspicious of Abernethy malformation complicated with HPS. If patients have abnormal serum ammonia and enlarged MPV in abdominal CT, cathether angiography should be done to rule out Abernethy malformation.

The Abernethy malformation with inferior caval vein hypoplasia: a tailored technique for transcatheter closure and an insight into embryological perspective.

Abernethy malformations manifest as hepatopulmonary syndrome, pulmonary vasculopathy, or encephalopathy. A novel intervention in a child with portosystemic shunt and inferior caval vein hypoplasia led to complete normalisation of hypoxia and relief of obstruction in the inferior caval vein. Embryological explanations of venous anomalies may indicate that inferior caval vein anomalies are frequent but under-recognised in patients with Abernethy malformation.

Catheter interventional treatment of congenital portosystemic venous shunts in childhood.

OBJECTIVES: The study aimed on the catheter interventional treatment of congenital portosystemic venous shunt (CPSVS) in childhood and the impact on vascular growth of hypoplastic portal veins. Clinical course and follow up of partial or complete closure of CPSVS are described. BACKGROUND: CPSVS is a very rare vascular malformation of the portal venous drainage resulting in potentially life threatening abdominal, pulmonary, cerebral, and cardiac complications. The anatomic type, clinical course, and diagnosis must be determined for optimal management. METHODS: Single centre case series. RESULTS: Eight (6 female) children with extrahepatic (n = 5) and intrahepatic (n = 3) CPSVS were diagnosed invasively by catheterization, including test balloon occlusion of the shunt and simultaneous retrograde angiography, and treated by catheter interventions (n = 5) with partial (n = 2) and complete (n = 3) occlusion of CPSVS at a median age of 3.9 years (range 0.7-21). Congenital heart disease (CHD) was the most frequent associated organ manifestation (n = 5) followed by mild to severe pulmonary arterial hypertension (n = 4), hepatopulmonary syndrome (n = 2), and portosystemic encephalopathy (n = 1). CHD was simple (n = 3) or complex type (n = 2). Three patients were untreated so far, because they were in excellent clinical condition at an age <1 year, refused treatment, or planned for later treatment. CONCLUSIONS: Accurate invasive diagnosis of CPSVS with test balloon occlusion of the shunt is mandatory to depict the anatomic situation. Catheter interventional treatment of CPSVS offers a feasible and safe approach with complete or partial closure of the vascular malformation inducing potentially significant vascular growth of a former hypoplastic portal venous system. © 2015 Wiley Periodicals, Inc.

Congenital extrahepatic portosystemic shunt: an underdiagnosed but treatable cause of hepatopulmonary syndrome.

Congenital extrahepatic portosystemic shunt (CEPS) is a rare malformation of the mesenteric vasculature, which may lead to severe complications. In this report, we describe a case series of three children with type II CEPS (presenting as hypoxemia) and hepatopulmonary syndrome (HPS). The first patient was a 4-year-old male who did not receive any specific treatment and subsequently died of brain abscess 5 years after the diagnosis. The second patient was a 10-year-old female with a 5-year history of cyanosis and dyspnea on exertion. She had partial regression of hypoxemia and improved exercise tolerance at 8 months after a surgical shunt closure. The third patient was a 4-year-old male with a 3-year history of cyanosis and decreased exercise tolerance. He had full regression of hypoxemia at 3 months after a transcatheter shunt closure. CONCLUSION: These results indicate that CEPS may present in children with unexplained hypoxemia, which may lead to devastating clinical consequences. Closure of portosystemic shunts may result in resolution of HPS in type II CEPS and the length of period for resolution varies depending on the severity of HPS. WHAT IS KNOWN: Congenital extrahepatic portosystemic shunt (CEPS) is a rare cause of hepatopulmonary syndrome (HPS). There have been few reports in the literature about the management and outcome of HPS in children with CEPS. WHAT IS NEW: CEPS may present in children with unexplained hypoxemia, which may lead to devastating clinical consequences. Closure of portosystemic shunts may result in resolution of HPS in type II CEPS.

Multiple regenerative nodular hyperplasia in the left infrarenal vena cava accompanied by Abernethy malformation.

The current study presents the case of a 19-year-old male patient who was detected with an increased alanine aminotransferase and aspartate transaminase levels during a preoperative evaluation of the right inguinal hernia operation and was later found to have Abernethy malformation accompanied by multiple regenerative nodular hyperplasia and left intra renal inferior vena cava. Regenerative nodular hyperplasia accompanying these two abnormalities is extremely rare and to the best of our knowledge, such a case has not been reported to date. Abdominal ultrasound (US) and color Doppler US, dynamic abdominal magnetic resonance imaging (MRI), and portography examinations were performed and a type 2 Abernethy malformation, partial malrotation of the inferior vena cava, and regenerative nodular hyperplasia were detected. We aimed to discuss the radiological signs of these two accompanying abnormalities with a literature review.

Congenital portosystemic shunts with and without gastrointestinal bleeding - case series.

BACKGROUND: The clinical presentation of congenital portosystemic shunt is variable and gastrointestinal bleeding is an uncommon presentation. OBJECTIVE: To describe the imaging features of congenital portosystemic shunt as it presented in 11 children with (n = 6) and without gastrointestinal bleeding (n = 5). MATERIALS AND METHODS: We performed a retrospective study on a clinical and imaging dataset of 11 children diagnosed with congenital portosystemic shunt. RESULTS: A total of 11 children with congenital portosystemic shunt were included in this study, 7 with extrahepatic portosystemic shunts and 4 with intrahepatic portosystemic shunts. Six patients with gastrointestinal bleeding had an extrahepatic portosystemic shunt, and the imaging results showed that the shunts originated from the splenomesenteric junction (n = 5) or splenic vein (n = 1) and connected to the internal iliac vein. Among the five cases of congenital portosystemic shunt without gastrointestinal bleeding, one case was an extrahepatic portosystemic shunt and the other four were intrahepatic portosystemic shunts. CONCLUSION: Most congenital portosystemic shunt patients with gastrointestinal bleeding had a shunt that drained portal blood into the iliac vein via an inferior mesenteric vein. This type of shunt was uncommon, but the concomitant rate of gastrointestinal bleeding with this type of shunt was high.

[Congenital portosistemic shunt. Importance of early treatment]. / Shunt portosistémico congénito. Importancia del tratamiento precoz.

AIM: Congenital portosistemic shunt (CPSS) is an uncommon condition that can cause serious complications such as encephalopathy and liver tumors at risk of malignant degeneration. Occlusion of the shunt by surgery or interventional radiology can prevent and even improve such complications. In some cases, liver transplantation is the only curative option. We describe our experience with this condition. PATIENTS AND METHODS: Between 1992 and 2013, eight children (four male and four female) were diagnosed with CPSS (four extrahepatic and four intrahepatic) in our center, of which seven were diagnosed after 2007. The mean age at diagnosis was 5.5 years (1 month-15 years). Five patients had associated comorbidities. RESULTS: Five patients had developed hyperammonemia and intellectual impairment, one of those manifested with an onset of coma. Four patients have developed at diagnosis liver tumors, including focal nodular hyperplasia/regenerative nodules (n=3) and adenomas (n=3). One patient with multiple tumors required a hepatectomy owing to compressive symptoms. Two patients, developed malignant degeneration, a child under five years treated with liver transplantation and another in adulthood treated with hepatectomy. In one patient, diagnosed in the neonatal period, the shunt occlusion occurred spontaneously. Direct portography with the occlusion test was performed in five patients, the shunt was occluded with interventional radiology in three cases, surgery in one and liver transplantation in the remaining. CONCLUSIONS: The treatment of the SPSC must be early to prevent and even to reverse its complications, avoiding liver transplantation. Currently, interventional radiology is essential in the strategy to follow and treatment of these patients.

OBJETIVOS: El shunt porto-sistémico congénito (SPSC) es una patología infrecuente que puede producir complicaciones graves, como encefalopatía y tumores hepáticos con riesgo de degeneración maligna. La oclusión del shunt por cirugía o radiología intervencionista puede evitar, e incluso mejorar, las complicaciones. En algunos casos el trasplante hepático es la única opción. Describimos nuestra experiencia con esta patología. PACIENTES Y METODO: Entre 1992 y 2013, ocho pacientes en edad pediátrica (cuatro varones y cuatro mujeres) fueron diagnosticados de un SPSC (cuatro extrahepáticos y cuatro intrahepáticos), de los cuales siete fueron diagnosticados después del año 2007. La mediana de edad al diagnóstico fue 5,5 años (1 mes-15 años). Cinco pacientes tenían patología asociada. RESULTADOS: Cinco pacientes presentaban hiperamoniemia y afectación intelectual. Una niña debutó con coma. Cuatro pacientes presentaron tumoraciones hepáticas, incluyendo hiperplasia nodular focal/nódulos de regeneración (n=3), y adenomas (n=3). Una paciente con tumoraciones múltiples requirió una hepatectomía por síntomas compresivos. En dos pacientes se produjo degeneración a hepatocarcinoma, un niño de 5 años tratado con trasplante y otro en edad adulta tratado con hepatectomía. En un paciente de diagnóstico neonatal, el shunt cerró espontáneamente en seis meses. En cinco pacientes se ha realizado portografía directa con test de oclusión, realizándose cierre del shunt en tres casos por radiología intervencionista, uno con cirugía y en otro, con trasplante. CONCLUSIONES: El tratamiento del SPSC ha de ser precoz para prevenir, e incluso revertir, las complicaciones, evitando el trasplante hepático. En la actualidad la radiología intervencionista juega un papel fundamental en la estrategia y el tratamiento de estos pacientes.

Peri-operative Anticoagulation Strategies, Bleeding and Thrombotic Complications in Pediatric Patients Undergoing Intervention for Congenital Portosystemic Shunts.

BACKGROUND: Congenital portosystemic shunts (CPSS) are rare congenital abnormalities causing abnormal blood flow between the portal vein and systemic circulation. This study reports on the peri-operative anticoagulation management of CPSS patients post closure, focusing on the incidence of thrombotic and bleeding complications. METHODS: This is a single-center retrospective analysis of CPSS patients who underwent surgery or endovascular intervention between 2005 and 2021. The protocol included unfractionated heparin (UFH) during and immediately after surgery, followed by either warfarin or low molecular weight heparin (LMWH) postoperatively. Outcomes assessed included postoperative thrombotic and bleeding complications. RESULTS: A total of 44 patients were included. Postoperatively, 89% received treatment-dose UFH, transitioning to warfarin or LMWH at discharge. Thrombotic complications occurred in 16% of patients, predominantly in the superior mesenteric vein. Surgical interventions and continuous infusion of tissue plasminogen activator (tPA) were used for clot resolution. Bleeding complications were observed in 64% of patients, primarily managed with transfusions and temporary UFH interruption. No deaths related to thrombotic, or bleeding events were reported. CONCLUSIONS: Our findings underscore the delicate balance required in anticoagulation management for CPSS patients, revealing an occurrence of both thrombotic and bleeding complications postoperatively. LEVELS OF EVIDENCE: Level II, retrospective study.