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.

Transcatheter closure of rare type Ⅱ Abernethy malformation with pulmonary hypertension in children： A case report / 临床肝胆病杂志

Abernethy malformation， also known as congenital portosystemic shunts， is rare in clinical practice， with less than 300 cases reported in the global literature up to 2019. The disease can have serious complications such as pulmonary hypertension， liver tumor， and liver failure and tends to have an extremely poor prognosis， and early diagnosis and active and effective treatment can reduce and delay the onset of complications. In this case， portography combined with balloon occlusion helped to display the underdeveloped slender portal vein with dysplasia， so that the child who was formerly misdiagnosed with type Ⅰ Abernethy malformation was diagnosed with type Ⅱ Abernethy malformation， and then the child was successfully treated by transcatheter closure. This article gives a detailed report of this case.

Value of color Doppler ultrasonography in evaluating Abernethy malformation and postoperative complications in children / 中华超声影像学杂志

Objective:To analyze the preoperative and postoperative color Doppler ultrasonographic features of Abernethy malformation in children, and to investigate the value of ultrasound diagnosis of Abernethy malformation and postoperative complications.Methods:A retrospective analysis was performed on the clinical and ultrasound data of twelve cases of Abernethy malformation confirmed by surgical treatment in the General Surgery Department of the Children′s Hospital Affiliated to Capital Institute of Pediatrics from February 2017 to November 2021. A comparison was made between preoperative ultrasound and intraoperative portal vein angiography after shunt ligation to explore the accuracy of preoperative ultrasound in diagnosing Abernethy malformation; The common location of thrombosis after shunt ligation was summarized by comparing postoperative ultrasound with CT angiography.Results:Preoperative ultrasonography showed no main portal vein or cable shape in 9 cases, and they were diagnosed as probable Abernethy type Ⅰ; The main portal vein was narrow in 3 cases, and they were diagnosed as Abernethy type Ⅱ. The main portal veins of 11 case were developing and they were confirmed as Abernethy malformation type Ⅱ by portal vein angiography after blocking of portosystemic shunt; the main portal vein of 1 case was not developing which was confirmed as Abernethy type Ⅰ. The classification accuracy of preoperative ultrasound diagnosis of Abernethy malformation was 33.3%. Preoperative ultrasound diagnosis of shunt vessel location: the coarse inferior mesenteric veins of 7 cases flowed into the iliac vein, the coarse inferior mesenteric vein of 1 case flowed into the inferior vena cava, splenic vein and superior mesenteric vein converged and flowed into inferior vena cava in 2 cases, splenic vein and left renal vein communicated in 2 cases. The location of shunt vessels diagnosed by portal vein X-ray angiography was basically consistent with preoperative ultrasonography. At the same time, inferior mesenteric vein shunt combined with tortuous and dilated vein network on colorectal surface was observed. After ligation of shunt vessels, all of shunt vessels were occluded or thrombolized in varying degrees.Splenic vein retropancreatic segment of three cases occured secondary thrombosis, and one case of blocked portal vein occured secondary cavernous change. All the thrombi were confirmed by CT angiography.Conclusions:①The main portal vein of Abernethy malformation type Ⅱ is tenuous, and is easily misdiagnosed Abernethy malformation type Ⅰ by preoperative ultrasound examination; ②Preoperative ultrasound can determine the location of Abernethy malformed shunt vessels; ③The shunt between the inferior mesenteric vein-iliac vein/inferior vena cava should be emphatically explored in children with recurrent hematochezia; ④Postoperative ultrasound can detect portal vein thrombosis early and provide help for clinical anticoagulant therapy.

Malformación de Abernethy tipo 2. Presentación de caso clínico y revisión de literatura / Malformation of abernethy type 2. Presentation of a clinical case and review of literature

El shunt porto-sistémico congénito extrahepático, es una patología muy poco frecuente del sistema vascular venoso del abdomen, descrita por John Abernethy en 1793. En esta malformación existe pasaje de sustancias no metabolizadas del hígado a la circulación sistémica y dilatación del lecho capilar pulmonar. Se divide en 2 grupos según la presencia (tipo II) o ausencia total (tipo I) de flujo portal. Se presenta un caso de un niño de 6 años de edad, producto de embarazo gemelar de la primera gesta de madre de 22 años de edad, atendido en el Hospital Vicente Corral Moscoso en la ciudad de Cuenca, con sintomatología respiratoria, sin un diagnóstico inicial definido; encontrándose en un estudio ecográfico abdominal casual, la presencia de una anomalía vascular portal, diagnosticándose de malformación de Abernethy tipo II mediante angiotomografía abdominal y resonancia magnética nuclear.Se realizó una revisión bibliográfica exhaustiva y posterior discusión del caso; encontrando como datos de importancia, la existencia de 80 casos reportados hasta el año 2014 a nivel mundial. En Latinoamérica hay el reporte de un caso en Venezuela en el año 2011 y en Argentina en el año 2016.Concluimos remarcando la importancia de una correcta anamnesis, examen físico y uso de las diferentes técnicas diagnósticas en cuanto a los síntomas respiratorios, debido a que existen patologías poco frecuentes que al ser diagnosticadas de forma temprana pueden ser tratadas con éxito, dando así al paciente una vida normal. El presente caso es el único reportado en Ecuador, con abordaje y tratamiento exitoso.

The extrahepatic congenital porto-systemic derivation is a very rare pathology of the venous vascular system of the abdomen described by John Abernethy in 1793. In this malformation there is a passage of substances not metabolized from the liver to the systemic circulation and dilation of the pulmonary capillary bed. It is divided into 2 groups according to the presence (type II) or total absence (type I) of portal flow.We present a case of a 6-year-old child, the product of twin pregnancy of the first pregnancy of a 22-year-old mother, who was treated at the Vicente Corral Moscoso Hospital in Cuenca, with respiratory symptoms, without an initial efinite diagnosis. The presence of a portal vascular abnormality was found in a casual abdominal ultrasound study, which was diagnosed as Abernethy type II malformation by abdominal angiography and nuclear magnetic resonanceA bibliographical review and subsequent discussion of the case was carried out; finding as important data, the existence of 80 cases reported until 2014 worldwide. In Latin America there is a case report in Venezuela in 2011 and in Argentina in 2016.We conclude by emphasizing the importance of a correct anamnesis, physical examination and use of different diagnostic techniques in terms of respiratory symptoms due to there are rare pathologies that being diagnosed early, can be treated successfully, thus giving the patient a normal life.The present case is the only one reported in Ecuador with a successful approach and treatment.

Neonatal congenital portosystemic shunt complicated with iliac artery-umbilical vein fistula: a case report and literature review / 中国新生儿科杂志

Objective To study the clinical characteristics and current treatment options of neonatal congenital portosystemic shunt (CPSS).Method A newborn infant diagnosed with CPSS complicated with iliac artery-umbilical vein fistula was studied.CNKI,VIP,WanFang and Pubmed databases were searched using CPSS and Abernethy malformation as keywords.A total of 8 papers on neonatal CPSS were retrieved from 2006 to 2016.Result The case treated in our hospital was a boy with symptom of dyspnea and cyanosis.His ultrasound cardiograph showed pulmonary hypertension,and the heart and abdominal CT scan showed portosystemic shunt,dilated portal vein and umbilical vein,patent ductus venosus (PDV) and iliac artery-umbilical vein fistula.A total of 25 patients were analyzed including our patient and 24 cases reported in 8 papers.Cases of intrahepatic shunt (n =22) were nore common than extrahepatic shunt (n =3),and most cases could be diagnosed with ultrasound.Congenital heart diseases,intrauterine growth retardation,cutaneous hemangioma were common complications of CPSS.Abnormal liver function (52.0％),hyperammonemia (28.0％),pulmonary arterial hypertension (12.0％),dyspnea (12.0％) were common clinical manifestations of neonatal CPSS.Most CPSS cases were treated non-operatively during neonatal periods,and in 40.0％ of cases the shunts were closed spontaneously,but mortality was 20.0％ among previous cases.Conclusion Abnormal hepatic function is the most common clinical symptom of neonatal CPSS.Cases of extrahepatic shunts and complicated with PDV are dangerous and operation should be done as soon as possible,meanwhile complications should be treated appropriately.

Chronic Hypoxemia in a Child: Thinking Outside the Box.

Background: Chronic hypoxemia is generally attributed to primary cardiac or pulmonary entities. Case characteristics: A 9-year-old boy presenting with cyanosis, clubbing and hypoxemia, without icterus or hepatosplenomegaly. Cardiovascular and respiratory system examinations were normal. Outcome: He was diagnosed as type IB Abernethy malformation, a rare cause of hepatopulmonary syndrome. Message: Pediatricians should consider hepatopulmonary syndrome in the differential diagnosis of chronic hypoxemia, even in the absence of jaundice or hepatosplenomegaly.

Comprehensive review of 18 cases with Abernethy malformation in China from 2001 to 2012 / 中华实用儿科临床杂志

Objective To acquire more knowledge about Abernethy malformation.Methods Eighteen cases with Abernethy malformation published previously in China from 2001 to 2012 were reviewed.The clinical,radiological and pathological manifestations and treatment were summarized.Results Of 13 cases with type Ⅰ Abernethy malformation (including 6 type Ⅰ a and 7 type Ⅰ b,5 male and 8 female),11 cases occurred by the age of 18 years.Their clinical manifestations included hematochezia in 4,hematemesis in 4,liver dysfunction in 5,liver cirrhosis in 2,hepatic encephalopathy in 2,hepatic nodule in 4,splenomegaly in 5,hypersplenism in 4,portal hypertension in 3 and other associated malformations in 3.Of 5 cases with type Ⅱ Abernethy malformation,2 cases occurred by the age of 18 years.Their clinical manifestations included liver dysfunction in 4,hematochezia in 1,liver cirrhosis in 1,hepatic encephalopathy in 1,hepatic nodule with focal nodular hyperplasia in 1.All 18 patients underwent imaging evaluation,multi-slice computed tomography(CT) angiography (MSCTA) in 16,including vascular ultrasound in 15,digital subtraction angiography (DSA) in 7,magnetic resonance angiography (MRA) in 1 and magnetic resonance imaging (MRI) in 1.The sites of drainage for portal vein system in 15 cases were documented,including the inferior vena cava (2/15 cases),internal iliac vein (5/15 cases),left renal vein (3/15 cases),azygos vein (2/15 cases),right atrium (2/15 cases) and pelvic venous plexus (1/15 case).And there was no record of specific draining site in other 3 cases.Ballooning degeneration of liver cells,liver cells nodular hyperplasia and fatty degeneration were detected in 2 cases of type Ⅰ Abernethy malformation.And liver focal nodular hyperplasia was demonstrated in 1 case of type Ⅱ Abernethy malformation.Four cases with hematochezia were misdiagnosed as ulcerative colitis,hemorrhoids or purpura.Two cases with clitoral hypertrophy were misdiagnosed as genital malformations.Due to crying,one 5-month-old baby was misdiagnosed as sepsis.Of these 18 cases of Abernethy malformation,most of the cases received conservative treatment.Surgical techniques such as splenectomy,surgical ligation of the veins of sigmoid and interventional embolization to occlude the shunt were used to treat splenomegaly,hematochezia,hematemesis or hepatic encephalopathy.Conclusions Abernethy malformation mainly occurs in children.Clinical presentation is nonspecific.Liver dysfunction,hepatic nodule,hematochezia,hematemesis,plenomegaly and hypersplenism are common manifestations.Compared with overseas reports,hepatic nodule,hepatic encephalopathy and concomitant abnormalities are rare,while hematochezia and hematemesis are more common.The diagnosis is made primarily according to imaging changes,and MSCTA is a useful tool to make a diagnosis.Individualized treatment of Abernethy malformation is determined by the type of deformity and the conditions of the patient.

Malformación de abernethy tipo 1: presentación de un caso clínico y revisión de la literatura / Abernethy Malformation type 1: report of a case and review of the literature

Se presenta caso de preescolar masculino de 5 años con antecedente de hepatoesplenomegalia desde el año de vida, quien consultó con clínica de hematuria, se realizó ecografía abdominal con hallazgos: de imágenes hipoecoicas difusas en el parénquima hepático, dificultad para valorar el sistema porta, esplenomegalia. Eco Doppler del sistema venoso portal presencia de anomalía vascular portal, no se observo porta principal, se realizó Angiotac multicorte del sistema arterial venoso portal y mesenterico que confirmo Agenesia de la vena Porta. Se diagnóstico malformación de Abernethy tipo I. Las malformaciones del sistema venoso abdominal son alteraciones vasculares raras. El primer acontecimiento de la ausencia congénita de la vena porta viene dado por un shunt cava mesenterico, los shunts portocava (SPC), son malformaciones infrecuentes descritas por Abernethy en 1973, se clasifican en dos grupos según la presencia tipo (II) o ausencia de la vena porta tipo (I). La malformación de Abernethy tipo I usualmente se relaciona a otras anomalías congénitas tales como: defectos cardiacos, atresia de vías biliares y poliesplenia, más frecuentes en el sexo femenino; en varones puede no encontrarse anomalías congénitas asociadas.

A case report of male preschool 5 years old with a history of hepatosplenomegaly since life, who consulted with clinical hematuria, abdominal ultrasonography was performed with fi ndings: hypoechoic image in the liver parenchyma diffuse, diffi cult to assess the portal system, splenomegaly. Echo Doppler of the portal venous system, presence of portal vascular anomaly, there was no main portal was ANGIOTAC multislice system portal and mesenteric venous blood confirmed that agenesis of the portal vein. Abernethy malformation is diagnosed type I Malformations of the abdominal venous system are rare vascular abnormalities. The first event of the congenital absence of the portal vein is given by a mesenteric caval shunt, shunts the Portocava (SPC) are rare malformations described by Abernethy in 1973, are classified into two groups according to the present type (II) or absence of portal vein type(I). The Abernethy malformation type I is usually associated with other abnormalities such as heart defects, atresia of bile ducts and poliesplenia more frequent in females, males May be associated congenital anomalies.

Malformación de abernethy tipo 1: presentación de un caso clínico y revisión de la literatura / Type-1 abernethy malformation: a clinic case presentation and review of literature

Se presenta caso de preescolar masculino de 5 años con antecedente de hepatoesplenomegalia desde el año de vida, quien consultó con clínica de hematuria, se realizó ecografía abdominal con hallazgos: de imágenes hipoecoicas difusas en el parénquima hepático, dificultad para valorar el sistema porta, esplenomegalia. Eco Doppler del sistema venoso portal presencia de anomalía vascular portal, no se observo porta principal, se realizó Angiotac multicorte del sistema arterial venoso portal y mesenterico que confirmo Agenesia de la vena Porta. Se diagnóstico malformación de Abernethy tipo I. Las malformaciones del sistema venoso abdominal son alteraciones vasculares raras. El primer acontecimiento de la ausencia congénita de la vena porta viene dado por un shunt cava mesenterico, los shunts portocava (SPC), son malformaciones infrecuentes descritas por Abernethy en 1973, se clasifican en dos grupos según la presencia tipo (II) o ausencia de la vena porta tipo (I). La malformación de Abernethy tipo I usualmente se relaciona a otras anomalías congénitas tales como: defectos cardiacos, atresia de vías biliares y poliesplenia, más frecuentes en el sexo femenino; en varones puede no encontrarse anomalías congénitas asociadas...

A 5-year old preschool male case is presented, with antecedent hepatosplenomegaly since one year old, who attended clinic consult with haematuria; abdominal echography was performed with the following findings: diffuse hypoecoic images on liver parenchyma, difficulties to assess the portal system, splenomegaly. Echo-Doppler of portal vein system evidenced the presence of portal vascular abnormality, no main portal vein was observed. A Multislice CT Angiography of the mesenteric and portal arterial-venous system was performed, which confirmed portal vein agenesis. Type-I Abernethy Malformation was diagnosed. The abdominal venous system’s malformations are rare vascular disturbances. The first event expressed by the portal vein congenital absence is evidenced by a caval-mesenteric shunt. Porta-Caval Shunt (PC-Shunts) are uncommon malformations described by Abernethy in 1973 that are classified into two groups as per the presence -Type II- or the absence -Type I- of portal vein. Type-I Abernethy Malformation is usually connected with other congenital abnormalities such as: heart defects, biliary tract atresia, and polysplenia, which are more frequent in females. Associated congenital abnormalities could not be found in males...

A Case of Congenital Extra Hepatic Portocaval Shunt(Abernethy Malformation Type 2) with a very LargeLiver Mass and an Atrial Septal Defect / 대한소아소화기영양학회지

Extrahepatic portosystemic shunts, known as Abernethy malformations, were first reported by John Abernethy in 1793. They are classified into two types: Type I refers to a congenital absence of the portal vein and Type II refers to a shunt involving a side-to-side anastomosis with reduced portal blood flow into the liver parenchyma. This malformation is so rare that less than 100 cases have been reported in the medical literature. We report the case of a 13-month-old boy who had a congenital extrahepatic portocaval shunt with a hypoplastic portal vein. This case was complicated with an atrial septal defect and a large hyperplastic nodule in the liver. The patient was diagnosed with a Type II Abernethy malformation. We planned on surgical occlusion of the extrahepatic portocaval shunt. However, six months later, the patient had a sudden onset of a fever of unknown origin and developed hepatic encephalopathy. Although he underwent a liver transplantation, he died of acute hepatic failure.