Rare portal hypertension caused by Abernethy malformation (Type IIC): A case report.

BACKGROUND: Abernethy malformation is a rare congenital vascular malformation with a portosystemic shunt that may clinically manifest as cholestasis, dyspnea, or hepatic encephalopathy, among other conditions. Early diagnosis and classification are very important to further guide treatment. Typically, patients with congenital portosystemic shunts have no characteristics of portal hypertension. Herein, we report an 18-year-old female with prominent portal hypertension that manifested mainly as rupture and bleeding of esophageal varices. Imaging showed a thin main portal vein, no portal vein branches in the liver, and bleeding of the esophageal and gastric varices caused by the collateral circulation upwards from the proximal main portal vein. Patients with Abernethy malformation type I are usually treated with liver transplantation, and patients with type II are treated with shunt occlusion, surgery, or transcatheter coiling. Our patient was treated with endoscopic surgery combined with drug therapy and had no portal hypertension and good hepatic function for 24 mo of follow-up. CASE SUMMARY: This case report describes our experience in the diagnosis and treatment of an 18-year-old female with Abernethy malformation type IIC and portal hypertension. This condition was initially diagnosed as cirrhosis combined with portal hypertension. The patient was ultimately diagnosed using liver histology and subsequent imaging, and the treatment was highly effective. To publish this case report, written informed consent was obtained from the patient, including the attached imaging data. CONCLUSION: Abernethy malformation type IIC may develop portal hypertension, and traditional nonselective beta-blockers combined with endoscopic treatment can achieve high efficacy.

Living donor liver transplantation for congenital absence of portal vein in portal venous reconstruction with a great saphenous vein graft.

BACKGROUND: Congenital absence of portal vein (CAPV) is a rare structural anomaly in which the portal vein (PV) blood that normally flow into the liver directly drains into the systemic venous system through other collateral circulation. Congenital portal vein shunts (CPSs) is classified into types I and II according to the absence or presence of the intrahepatic portal vein, respectively. The CPS type I is also known as CAPV. The liver transplantation may be the only treatment option for CAPV. The key point of liver transplantation for CAPV is the reconstruction of the PV. CASE PRESENTATION: A 29-year-old man was diagnosed with CAPV with splenomegaly and gastroesophageal varix when being treated for pancytopenia and liver dysfunction. A living donor liver transplantation was performed for him using the right lobe which had been donated by his mother. The PV was reconstructed using his own great saphenous vein (GSV) as a graft vein. The end of the GSV graft was anastomosed to the inferior mesenteric vein while the other end was anastomosed to the vein graft of the right hepatic vein from the explanted liver. CONCLUSION: Using the patient's own GSV for PV reconstruction during living donor transplantation in the patient with CAPV seems to be an effective method.

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 Type Ib) With Associated Hepatocellular Carcinoma: Case Report and Literature Review.

Abernethy malformation, also termed congenital portosystemic shunt and congenital absence of portal vein is the result of malformation of the splanchnic venous system. Congenital portosystemic shunts are divided into extra- and intrahepatic shunts. Two shunts have been defined: Type I is characterized by the complete diversion of portal blood into the vena cava with an associated congenital absence of the portal vein. Type II is defined by an intact but diverted portal vein through a side-to-side, extrahepatic connection to the vena cava. The clinical manifestations of Abernethy malformation are diverse with a typical presentation consisting of hypoxia and hepto-pulmonary syndrome. Histologically, focal nodular hyperplasia, nodular regenerative hyperplasia, liver adenoma, hepatoblastoma, and hepatocellular carcinoma have all been reported. Herein, we report a case of Abernethy malformation, type Ib, in a 12-month-old male who was found to have a small hepatocellular carcinoma at the time of explant. The immunohistochemical characteristics in relation to the genetic aspects are discussed. To our knowledge, this is the first reported case of hepatocellular carcinoma developing in a patient who is under the age of 5 years with Abernethy malformation.

Ausencia congénita de la vena porta hepática asociada a malrotación intestinal y a vena cava inferior izquierda: reporte de caso / Congenital absence of the hepatic portal vein associated to intestinal malrotation and left-sided inferior vena cava: a case report

La ausencia congénita de la vena porta hepática es una malformación en extremo rara, fue descrita por primera vez en 1793 por John Abernethy y a la fecha se han reportado sólo 101 casos. Afecta con mayor frecuencia a mujeres y determina que el drenaje venoso intestinal sea derivado hacia el territorio de las venas sistémicas. Es también conocida como derivación porto-sistémica extra hepática congénita (CEPS), por su sigla en inglés, y se asocia a otras alteraciones congénitas,incluyendo anomalías cardíacas, de las vías biliares, enfermedades metabólicas y retardo mental. En este trabajo presentamos el hallazgo de esta malformación en el cadáver de un niño de dos años de edad, donde la vena porta seguía un trayecto anómalo y se unía a la vena renal derecha. El confluente venoso "mesentérico-esplénico-renal" así formado presentaba un trayecto descendente, recibía a la vena gonadal derecha, y desembocando en la confluencia de las venas ilíacas comunes. Esto se asociaba a mal rotación intestinal, arteria hepática aberrante y a vena cava inferior izquierda, situación descrita sólo una vez en la literatura. El hallazgo de estas anomalías anatómicas en los cadáveres disecados con fines docentes en nuestro Departamento de Anatomía, tiene un valor formativo indiscutible para nuestros alumnos de pre y postgrado, quienes pueden valorar las implicancias de este conocimiento anatómico en la clínica diaria.

Congenital absence of the hepatic portal vein is an extremely rare malformation that was first described by John Abernethy in 1793. Only 101 cases had been described in the literature until 2015 and most affected females. In this anomaly, also known as congenital extrahepatic porto-systemic shunt (CEPS), intestinal venous drainage is derived towards the territory of the systemic veins and could be associated with other birth defects, including heart and biliary tract anomalies, metabolic diseases, mental retardation. We present the case of a 2-year-old boy who died because of multifocal pneumonia and necropsy showed anatomical findings consistent with this malformation as an incidental finding. The portal vein followed an anomalous course and joined the right renal vein, forming the "mesenteric-splenic-renal" venous collector, which then received the right gonadal vein and ended at the confluence of the common iliac veins. In our case this anomaly was associated to intestinal malrotation, aberrant hepatic artery and persistent left inferior vena cava, situation described once in the literature. The finding of these anatomical abnormalities in cadavers has a great teaching value for our undergraduate and graduate students who are learning anatomy and they can also assess the associated clinical.

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.

Congenital absence of the portal vein--Case report and a review of literature.

Congenital absence of the portal vein (CAPV) is a rare anomaly in which the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through various venous shunts. To our knowledge, we have reviewed all 83 cases of CAPV, since first described in 1793. This equates to a rate of almost 2.5 cases per year over the last 30 years. Morgan and Superina (1994, J. Pediatr. Surg. 29:1239-1241) proposed the following classification of portosystemic anomalies; either the liver is not perfused with portal blood because of a complete shunt (Type I) or the liver is perfused with portal blood due to the presence of a partial shunt (Type II). In our case, abdominal venous blood drained into the suprarenal inferior vena cava via the left renal vein and dilated left gastric veins. After analyzing all reported cases, we recognize that more than 65% of patients are females and more than 30% of all published cases had been diagnosed by the age of 5 years. Additional anomalies are common in CAPV. In the reported cases, more then 22% of patients had congenital heart disease. Other commonly found anomalies include abnormalities of the spleen, urinary and male genital tract, brain as well as skeletal anomalies. Hepatic changes such as focal nodular hyperplasia, hepatocellular carcinoma, and hepatoblastoma are diagnosed in more then 40% of patients. This article also illustrates the radiological findings of CAPV. Radiological evaluation by ultrasound, CT, and MRI is helpful to detect coexisting abnormalities.