ABSTRACT
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.
Subject(s)
Humans , Male , Child, Preschool , Intestines/abnormalities , Portal Vein/abnormalities , Vena Cava, Inferior/abnormalities , CadaverABSTRACT
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.
ABSTRACT
Congenital Absence of the Portal Vein (CAPV) is a rare anomaly in which the intestinal and splenic venous drainage bypasses the liver and drains into the systemic veins through various venous shunts. We present a case of a 32-year-old woman with this malformation, the patient experienced hematemesis and melena repetitively and had splenomegaly and hypersplenism. The angiography demonstrated absence of portal vein. Splenectomy was performed to reduce the pressure of the veins around stomach and to correct the hypersplenism. In endoscopy examination six months after surgery, the esophageal varices had disappear and the size of gastric varices had decrease.