Absence Of Portal Vein Research Articles

Type II Abernethy malformation with cystic fibrosis in a 12-year-old girl: A case report

BACKGROUND Abernethy malformation, also known as congenital extrahepatic portosystemic shunt, is an uncommon malformation resulting from aberrant development of the portal venous system. Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene. It mainly affects the exocrine glands of the respiratory, digestive and reproductive systems. It is considered extremely rare in the Asian population. We present a clinical case involving a pediatric patient of Asian descent who was diagnosed with Abernethy malformation and CF. CASE SUMMARY A 12-year-old girl presented with a medical history of recurring respiratory infections and hemoptysis, and chest computed tomography (CT) showed bronchiectasis. Whole exome sequencing was performed for the patient, yielding findings that revealed a compound heterozygous variant of the CFTR gene: c.233_c.234insT/p.Trp79fsTer3 (maternal origin); c.2909G>A/p.Gly970Asp (paternal origin). CF was diagnosed. The physician’s attention was drawn to the presence of splenomegaly during disease progression. Abdominal enhanced CT revealed splenomegaly, compression of the left kidney, and multiple tortuous dilated vascular shadows were seen at the splenic hilum, which flowed back into the left renal vein and portal vein, suggesting Abernethy malformation type II. Intraoperatively, the abnormal blood flow was seen to merge into the inferior vena cava through the left renal vein without hepatic processing, and the pathology of liver biopsy showed hypoplastic, dilated or absent portal vein branches, both of which supported the diagnosis of Abernethy malformation type II. This represents the initial documented instance of Abernethy malformation accompanied by a CFTR gene mutation in the existing body of literature. CONCLUSION Coexisting Abernethy malformation and CF are rare. Detailed medical history information, abdominal enhanced CT, venography and genetic testing contribute to diagnosis as well as differential diagnosis.

Abernethy Malformation: Possible Diagnosis for Patients with Congenital Heart Disease and Persistent Cyanosis.

Infant, nine months of age, female, diagnosed with congenital heart disease, with signs of heart failure associated with cyanosis and difficulty in gaining weight. Cardiomegaly with prevalence of pulmonary vascular network. Ectopic atrial rhythm with right ventricular overload and left anterosuperior divisional block. Single atrium with absent interatrial septum, atrioventricular connection with a single valve and two orifices, with increased pulmonary pressure and high Qp/Qs. Absence of portal vein and intrahepatic segment of the inferior vena cava. Infrahepatic portion continuing with the azygos system at the level of the thoracic cavity, presence of mesenteric-caval communication associated with signs suggestive of hepatic peribiliary fibrosis. Abernethy malformation is a rare condition and represents an extrahepatic portosystemic shunt that develops between the mesenteric-portal vasculature and the systemic veins. It may be associated with cardiac malformations and advance with pulmonary hypertension and even the need for liver transplantation. Persistent cyanosis after corrective surgery led to a deeper investigation and correct diagnosis of this malformation. Sternotomy with 68 minutes of cardiopulmonary bypass and nine minutes of total circulatory arrest. In the postoperative period, persistence of cyanosis was evident, even though there were no immediate complications. Patient was discharged on the 10th postoperative day. An abdominal computed tomography angiography confirmed the diagnosis of Abernethy type I malformation, and the patient was transferred for liver transplantation after congenital heart disease treatment.

Porto-sinusoidal vascular disorder.

It is well established that portal hypertension can occur in the absence of cirrhosis, as reported in patients with immune disorders, infections and thrombophilia. However, similar histological abnormalities primarily affecting the hepatic sinusoidal and (peri)portal vasculature have also been observed in patients without portal hypertension. Thus, the term porto-sinusoidal vascular disorder (PSVD) has recently been introduced to describe a group of vascular diseases of the liver featuring lesions encompassing the portal venules and sinusoids, irrespective of the presence/absence of portal hypertension. Liver biopsy is fundamental for PSVD diagnosis. Specific histology findings include nodular regenerative hyperplasia, obliterative portal venopathy/portal vein stenosis and incomplete septal fibrosis/cirrhosis. Since other conditions including alcohol-related and non-alcoholic fatty liver disease, or viral hepatitis, or the presence of portal vein thrombosis may occur in patients with PSVD, their relative contribution to liver damage should be carefully assessed. In addition to histology and clinical diagnostic criteria, imaging and non-invasive tests such as liver and spleen stiffness measurements could aid in the diagnostic workup. The introduction of PSVD as a novel clinical entity will facilitate collaborative studies and investigations into the underlying molecular pathomechanisms encompassed by this term.

MRI Findings of Liver Parenchyma Peripheral to Colorectal Liver Metastasis: A Potential Predictor of Long-term Prognosis.

Background Gadoxetic acid (Gd-EOB-DTPA)-enhanced MRI is superior to CT in the detection of colorectal liver metastases (CRLMs) smaller than 10 mm. However, few studies have used MRI findings to predict patients' long-term prognosis. Purpose To investigate the relationship between Gd-EOB-DTPA-enhanced MRI findings in the liver parenchyma peripheral to CRLM and both pathologic vessel invasion and long-term prognosis. Materials and Methods This retrospective study included patients who underwent Gd-EOB-DTPA-enhanced MRI before curative surgery for CRLM, without neoadjuvant chemotherapy, between July 2008 and June 2015. Early enhancement, reduced Gd-EOB-DTPA uptake, and bile duct dilatation peripheral to the CRLM at MRI were evaluated by three abdominal radiologists. All tumor specimens were reevaluated for the presence or absence of portal vein, hepatic vein, and bile duct invasion. Predictors of recurrence-free survival (RFS) and overall survival (OS) after surgery were identified with Cox proportional hazard model with the Bayesian information criterion. Previously reported prognosticators were selected for multivariable analyses. The median follow-up period was 60 months (range, 9-127 months). Results Overall, 106 patients (mean age, 65 years ± 12 [standard deviation]; 68 men) with 148 CRLMs were evaluated. Bile duct dilatation peripheral to the tumor was associated with pathologic portal vein invasion (sensitivity, 12 of 50 [24%]; specificity, 89 of 98 [91%]; P = .02), bile duct invasion (sensitivity, eight of 19 [42%]; specificity, 116 of 129 [90%]; P = .001), poor RFS (P = .03; hazard ratio [HR] = 2.4 [95% confidence interval {CI}: 1.3, 4.2]), and poor OS (P = .01; HR = 2.4 [95% CI: 1.2, 4.9]). For RFS and OS, early enhancement and reduced Gd-EOB-DTPA uptake peripheral to the CRLM were eliminated by means of variable selection in the multivariable analysis, but the combination of these findings with bile duct dilatation provided a predictor of poor OS (P = .001; HR = 3.3 [95% CI: 1.6, 6.8]). Conclusion MRI signal intensity changes peripheral to the colorectal liver metastasis were predictors of long-term prognosis after curative surgery without neoadjuvant chemotherapy. © RSNA, 2020 Online supplemental material is available for this article. See also the editorial by Bashir in this issue.

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

BackgroundCongenital 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 presentationA 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.ConclusionUsing the patient’s own GSV for PV reconstruction during living donor transplantation in the patient with CAPV seems to be an effective method.

Right Hepatectomy In Patient with Absent Portal Vein Bifurcation

Introduction: Understanding of hepatic vascular anatomy and its variations are crucial for performing liver resection and transplantation. Here we present a case of successful right hepatectomy in the patient with absent portal vein bifurcation. Case presentation: 34 years old female presented for elective right hepatectomy. Preoperative CT scan demonstrated absence of portal vein bifurcation. Right hepatectomy was safely achieved by parenchymal division under ultrasound guidance with preservation of intrahepatic portal branches to left hemiliver and without postoperative complications. Discussion: Normal portal vein anatomy is observed in 65-86% of all cases [1, 2]. Of all portal vein anatomy variations, absence of the portal vein bifurcation is rarest among reported with incidence as low as 0.03% [1]. Conclusion: Preoperative recognition of aberrant portal vein anatomy is important for prevention of life-threatening complications after elective hepatectomy and transplantation.

Long-Term Azathioprine Use and the Development of Non-Cirrhotic Portal Hypertension

Introduction: Non-cirrhotic portal hypertension (NCPH) is caused by intra- and extrahepatic etiologies. NCPH presents with signs of portal hypertension, especially variceal bleeding and splenomegaly. Extrahepatic portal vein thrombosis, nonalcoholic steatohepatitis, and primary sclerosing cholangitis are the most prevalent causes in the Western world. In rare cases, immunosuppressive drugs, particularly azathioprine (AZA), 6-mercaptopurine, and 6-thioguanine (TG), have been implicated in nodular regenerative hyperplasia, an idiopathic form of NCPH. Here we describe a case of NCPH with obstructive portal venopathy possibly induced by long-term AZA use. Case: A 44-year-old male with type I diabetes and Crohn's Disease was referred to our hepatology clinic for management of presumed cirrhosis. At the age of 40, after 20 years on AZA, EGD demonstrated grade II esophageal varices. Ultrasound revealed increased liver echogenicity and marked heterogeneity, as well as portal vein dilatation and splenomegaly. Beta-blocker therapy was initiated and AZA was discontinued. Adalimumab was started but was switched to vedolizumab one year later due to coccidioidomycosis infection. Labs were significant for thrombocytopenia, leukopenia, and microcytic anemia. MRI on presentation to our facility demonstrated splenomegaly and patent portal veins but no signs of cirrhosis. Ultrasound-guided liver biopsy demonstrated dense portal fibrosis and focal obliteration of portal vein branches. Portal vein branches were absent from portal tracts, and outlet venules were dilated (Figure 1). There was no evidence for clinical, radiologic, or histological cirrhosis or fatty liver disease.2250 Figure 1. Absence of portal veins from portal tracts with dilatations of the outlet venules (“herniated” portal veins, arrows), consistent with obstructive portal venopathy (A. H&E stain x200; B. Trichrome stain x100).Discussion: While the pathogenesis of AZA-induced NCPH remains uncertain, there is evidence that glutathione depletion, which is toxic to sinusoidal endothelial cells, leads to veno-occlusive disease. Whether occlusive venopathy is attributable to 6-TG toxicity alone remains unclear. Portal fibrosis and obstructive venopathy on histology in the absence of vascular occlusion on imaging suggest that portal hypertension in our patient was heralded by intrahepatic changes. Damage to endothelium by 6-TG represents one possible mechanism; however, it is just as feasible that an autoimmune process led to NCPH in this patient. We thus propose further research into possible associations between AZA and NCPH.

Congenital absence of portal vein associated with remodeling of the liver

Congenital absence of portal vein is a kind of abnormal congenital embryonic development which is rarely seen in clinical practice.It is easily misdiagnosed due to the lack of characteristic clinical manifestations.In this article,the computed tomography findings of 1 patient with congenital absence of portal vein associated with remodeling of the liver were analyzed.The patient was admitted to the First Hospital of Ningbo in February 2013.Relevant literatures were reviewed to investigate the diagnostic value of imaging examination,and to improve the awareness of surgeons on this diseases. Key words: Absence of portal vein, congenital; Remodeling of liver; Imaging examination

Comprehensive review of 18 cases with Abernethy malformation in China from 2001 to 2012

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 typeⅡAbernethy 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 angio-graphy (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 dege-neration 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 typeⅡAbernethy 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.Indivi-dualized treatment of Abernethy malformation is determined by the type of deformity and the conditions of the patient. Key words: Abernethy malformation; Absence of portal vein; Portocaval shunt

Factors Affecting Survival following Chemoembolization with Doxorubicin-eluting Microspheres for Inoperable Hepatocellular Carcinoma

PurposeTo assess factors associated with better overall survival (OS) and progression-free survival (PFS) following chemoembolization with doxorubicin-eluting microspheres for inoperable hepatocellular carcinoma (HCC) Materials and MethodsData of 130 patients (104 men; median age, 62 y) with inoperable HCC who underwent successful DEB chemoembolization with 100–300 -μm LC Bead particles loaded with 50 mg doxorubicin per vial were reviewed following human research committee approval. Effects of various clinical, imaging, and response factors on OS and PFS were assessed by univariate Kaplan–Meier survival analysis. Multiple Cox regression with backward elimination was performed for terms found significant (P≤.05) on univariate analysis. ResultsThe number of DEB chemoembolization procedures per patient ranged from one to four (mean, 2±1). The median PFS and OS were 5.7 months (95% confidence interval, 4.6–7.6 mo) and 14.7 months (95% confidence interval, 12.3–19.7 mo), respectively. On multivariate Cox regression, Cancer of the Liver Italian Program (CLIP) score of 1 or lower, necrosis of more than 50%, and response or stable disease per Response Evaluation Criteria In Solid Tumors after DEB chemoembolization were associated with better PFS. CLIP score of 1 or lower, Eastern Cooperative Oncology Group (ECOG) performance status (PS) of 1 or lower, absence of portal vein (PV) thrombosis, and necrosis greater than 50% following DEB chemoembolization were associated with better OS. ConclusionsCLIP score of 1 or lower and necrosis of more than 50% are independent variables affecting PFS and OS after DEB chemoembolization, whereas absence of PV thrombosis and ECOG PS of 1 or lower affected OS but not PFS.

Congenital absence of the portal vein in a patient with multiple vascular anomalies

A 15-year-old male patient accepted to emergency department with nausea, vomiting, sleepiness, and severe epigastric pain. The patient has a history of mild mental retardation since his childhood. Physical examination showed epigastric tenderness. Laboratory findings were consistent with mildly increased liver enzymes and hyperammonemia. Result of abdominal ultrasound was suboptimal due to lack of patient cooperation. Patient underwent abdominal and thoracic computed tomography (CT) examination to investigate the possible causes of hyperammonemia and liver disease. The CT scan showed the absence of portal vein with direct connection of portomesenteric system with systemic venous circulation. There were also various arterial and venous anomalies along with multiple hepatic masses. Whole anatomy of the thorax and abdomen was delineated with multiplanar reformatted images and maximum intensity projection technique. Imaging findings are consistent with Type Ib Abernethy malformation. The patient also underwent brain magnetic resonance imaging to investigate the presence of central nervous system changes due to hyperammonemia.

76 Factors Associated with Development of Food Allergy in Liver-Transplanted Children

BackgroundThe development of food allergy (FA) after transplantation has been described mainly about liver transplantation in children (Pediatr Allergy Immunol. 2009; 20: 741–747). It has been becoming important issue in this population. Although tacrolimus immunosuppressive therapy has been considered a significant risk factor (J Allergy Clin Immunol. 2011; 127: 1296–1298), other risk factors are not identified yet. This study was undertaken to evaluate the risk factors other than tacrolimus immunosuppressive therapy.MethodsThis study was a retrospective analysis of pediatric liver transplant recipients in our hospital. We reviewed the medical records of all patients who underwent liver transplantation during study period. Data collected including preceding-hepatic diseases, the number of previous surgeries, age at liver transplantation and etc.ResultsBetween November 2005 and May 2010, 106 children received liver transplantation. The most common indication for liver transplantation was biliary atresia (BA; 47 patiens, 44.3%). The other conditions were: congenital metabolic diseases in 27 patients, fulminant hepatic failure in 19, liver cirrhosis in 6, congenital absence of portal vein in 3, congenital hepatic fibrosis in 2 and hepatic tumor in 2 patients. After transplantation, all the patients received immunosuppressive therapy based on tacrolimus regimen. Fifteen patients (10 female and 5 male) developed new-onset FA (14.2%). The average age at transplantation was 10 months and FA has been developed within 2 years (median 11 months, IQR, 4.5–19.0). Eleven patients with BA (23.4%) and 4 patients with the other conditions (6.8%) developed new-onset FA (P = 0.023). Among the patients who developed FA, the number of previous surgeries was significantly higher in patients with BA (P = 0.008).ConclusionsNew-onset food allergy after liver transplantation is now becoming a significant problem. We observed a trend toward an excess of FA in patients with BA compared to patients with other indications for liver transplantation. Patients with BA received surgical operations in several times before liver transplantation. Frequent operations might add some stimulation to generate new-onset FA and should be considered as a susceptible subgroup that requires specific attention.

Measuring the quality of colonoscopy at a district general hospital in south east England: adenoma detection rates and withdrawal times

s / International Journal of Surgery 10 (2012) S1–S52 S21 ABSTRACTS Background: Congenital extrahepatic portosystemic shunt the Abernethy malformation is a rare anomaly. We present a 26 year old male with right upper quadrant pain also found to have an absent portal vein, double gallbladder, double spleen, right-sided pancreas and malrotation of the gut. Method: A search was made on Pubmed for literature on Abernethy malformation and these were examined for associated abnormalities similar to those found in our patient. Results: Abernethy malformation is extremely rare. Type I describes a complete absence of the portal vein as in our patient but is more common in females. It is also associated with other abnormalities including polysplenia, cardiac anomalies as well as malrotation . Type II is commoner in males, describing a partial shunt and rarely associated with other malformations. Hepatic neoplasms are a common finding in patients with CEPS. No case with associated double gall bladder was described. After routine imaging, no definite cause for the patient's abdominal pain was found. However, several liver lesions were noted and are currently being investigated. Conclusion: A very rare case of Abernethy malformation with associated polysplenia, malrotation and we report, to our knowledge, the first instance of an associated double gallbadder. 1089 WINNER OF IJS CASE REPORTS PRIZE (JOINT 1 PLACE): A TRANSRECTAL, RETROPERITONEAL PARA-AORTIC LYMPH NODE DISSECTION USING NATURAL ORIFICE TRANSLUMINAL ENDOSCOPIC SURGERY (NOTES) IN A PORCINE MODEL A.M. Howell, M.H. Sodergren, J. Clark, D. Noonan, J. Teare, G.Z. Yang, A. Darzi. Imperial College, London, UK Background: Retroperitoneal lymph node dissection is employed in highrisk clinical stage 1 nonseminomatous germ-cell tumours to detect metastases. Current methods include open and laparoscopic approaches. Transvaginal NOTES para-aortic lymphadenectomy for gynaecological malignancy has been described. We present a novel trans-rectal approach. Methods: Under ethical approval and home office license, a para-aortic lymphadenectomy was performed in an anaesthetised 55kg pig in the supine position. A rectal port was placed and the retroperitoneum was accessed through a 2inch incision in the posterior rectal wall using a flexible endoscope. The retroperitoneal space was opened using blunt dissection and CO2 insufflation. The right kidney, right renal vein and inferior vena cava were easily identified. A para-aortic lymph node was removed using conventional flexible endoscopic instruments. Results: A para-aortic lymph node was successfully excised and the histology was confirmed microscopically. Operating time was 27mins without injury to other structures encountered. Subjectively, access was straightforward and the retroperitoneal structures clearly visualised. The animal was euthanized at the end as per the experimental protocol. Conclusion: It is feasible to obtain para-aortic lymph nodes using a transrectal, retroperitoneal NOTES approach in the porcine model. This approach could provide an alternative diagnostic option for patients with suspected retroperitoneal pathology.

Case 177: Congenital Absence of the Portal Vein with Hepatic Adenomatosis

This patient had congenital absent portal vein and hepatic adenomatosis combined with malignant transformation to well-differentiated hepatocellular carcinoma.

Maximizing Use of Marginal Liver Grafts for Transplantation: A Case Report of Absent Donor Extrahepatic Portal Vein

Maximizing Use of Marginal Liver Grafts for Transplantation: A Case Report of Absent Donor Extrahepatic Portal Vein

A Congenital Portosystemic Shunt Associated with Celiac Sprue wnd Gilbertʼs Syndrome

Purpose: A 28-year-old Caucasian male with history of celiac sprue presented to an outside facility with acute onset of diffuse abdominal pain, fever, nausea, vomiting, and diarrhea for the preceding four hours. The patient also reported intermittently having dark urine and light stools for several months. Lab work obtained was significant for an elevated bilirubin level, and a CT scan of the abdomen was suspicious for a portal vein aneurysm. The patient was then referred for further evaluation by Vascular Surgery and Gastroenterology. His total bilirubin was 6.6 mg/dL with no conjugated component, consistent with Gilbert's syndrome. An abdominal ultrasound was abnormal, with the main extrahepatic portal vein communicating with the inferior vena cava; the right branch of the portal vein and the distal left portal veins were not visible, raising concern for chronic thrombosis or congenital agenesis. An abdominal MRI was obtained for further evaluation of the vasculature and was significant for the portal vein flowing directly into the intrahepatic inferior vena cava, consistent with a congenital portacaval shunt. There were no portal vein branches within the liver, which was confirmed by liver biopsy showing no well-defined portal venules. The patient was diagnosed with dehydration secondary to an acute gastroenteritis, along with new diagnoses of Gilbert's syndrome and an Abernathy malformation in addition to his previously diagnosed celiac sprue. Abernathy malformation was first described as an absent portal vein and a congenital mesenterico-caval shunt. There are two types of shunts, type 1 being a congenital absence of the portal vein with resultant complete diversion of portal blood into the vena cava. Type 2, which is seen in this patient, occurs when the blood from the intact portal vein is diverted into the vena cava through an extrahepatic communication. Congenital shunts are associated with other anomalies, including heart disease, biliary atresia, duodenal atresia, and both benign and malignant hepatic neoplasms requiring a thorough screening process. Am J Gastroenterol 2009; 104:S304-S325; doi:10.1038/ajg.2009.492

Ball and socket ankle joint in connection with bilateral tarsal synostosis in a boy with congenital absence of the portal vain: a novel malformation complex

BackgroundContracted valgus flat foot in the adolescent is frequently caused by tarsal synostosis or synchondrosis. These synostoses are prevalently symptomatic during adolescence, when by ossifying they block the subtalar joint in valgus. Careful and detailed examinations might reveal additional abnormalities.Case presentationA 16-year-old boy of Austrian origin presented with contracted valgus foot associated with tarsal hypomobility and pain. Talonavicular synostosis with ball and socket ankle joint was detected via lateral radiographs and 3 DCT scan. Preoperative laboratory investigations revealed leucocytopenia, and thrombopenia. Computerised abdominal tomography showed portal vein atresia and portopulmonary hypertension.ConclusionClinical research is the corner stone to elucidate the aetiological understandings in patients with malformation complex. The latter is a critical task for the development of scientific bases for preventive strategies. Careful examination for these abnormalities should lead the clinician to earlier referral of patients for additional examination by a specialised medical team. This often enables more focused care for the individual and better characterisation/documentation of the malformation complex. The association of tarsal synostosis and the previously unreported associated occurrences of congenital absence of the portal vein, portopulmonary hypertension, cardiomegaly and splenomegaly have been encountered. We stress that our present patient illustrates and supports the pathophysiological hypotheses that have previously proposed for the concurrent existence of absent portal vein, hepatic nodular hyperplasia and portopulmonary hypertension. Nevertheless, no previous single report signifies the existence of tarsal synostosis in connection with the above-mentioned abnormalities.

Over-expression of glutamine synthase in focal nodular hyperplasia (part 1): Early stages in the formation support the hypothesis of a focal hyper-arterialisation with venous (portal and hepatic) and biliary damage

BackgroundMost focal nodular hyperplasia (FNH) cases are diagnosed by chance. We studied a case of pre-FNH. We used glutamine synthase as an immunohistochemical marker for perivenous zones.ResultsNeither fibrotic scars nor hepatocytic nodules surrounded by fibrosis with a ductular reaction were observed in the sections studied. Most sections generally displayed preserved architecture. The glutamine synthase-positive hepatocyte areas were wider than those observed in non-tumoural surrounding liver, and they tended to extend outwards. Portal tracts bordering the nodule were more fibrotic, with an absence of portal veins and ducts and with arterial proliferation often in proximity with large draining veins; isolated arteries were present and hepatic veins were rare in the nodule. These features appeared prior to the identification of other major criteria characteristics of FNH, thus supporting the "hypothesis of Wanless".ConclusionThe findings confirm that in FNH there is a portal tract injury leading to local portal vein injury. This leads to a cascade of events, including arterial venous shunts, ductular reaction, and scar formation.

P102: Abnormal umbilical, portal and hepatic venos system-its correlation to associated malformation, congestive heart failure, liver dysfunction and fetal outcome

To present our experience in the prenatal diagnosis and surveillance of abnormalities of the fetal central veins. An observational study of 12 fetuses with an abnormal umbilical, potal and umbilical venous system being diagnosed at two centers in Bonn and Trondheim. the abnormality was related to associated malformations, development of congestive heart failure or fetal hydrops, abnormal echogenity of the liver parenchyma and outcome of pregnancy. In group 1, five fetuses had an umbilical vein which went directly into the right atrium, by-passing the liver. No ductus venosus, no portal veins and abnormal hepatic veins were detected. Echogenic foci in the liver were present in absence of portal veins. One fetus with Turner Syndrome dies in utero. The other fetuses had no associated malformations, but congestive heart failure secondary to volume overload and fetal hydrops in two cases. The outcome was uneventful after a short period of disturbed adaption. In group 2 of five fetuses, the umbilical vein went below the liver into the inferior Vena cava or via the iliac vein into the distal IVC. A ductus venosus was present in all but one fetus. Portal veins were absent in all and hepatic veins were abnormal developed in four fetuses. Associated malformations were seen in two cases. The other had a transient cardiomegaly and a favourable outcome. In group 3 two siblings had a normal umbilical vein, but an abnormal located ductus venosus. There was hepatomegaly and polyhydramnios in one and hepatomegaly and increasing ascites in the other. Autopsy showed a congenital cholangiopathy after neonatal death and abruption of pregnancy. Malformation of the umbilical, portal and hepatic venous system are rare, but can be associated with malformations or disturbed cardiac or hepatic function requiring intra-uterine or post partal therapy.

FNH-like nodules: Possible precursor lesions in patients with focal nodular hyperplasia (FNH)

BackgroundThe typical lesion of focal nodular hyperplasia (FNH) is a benign tumor-like mass characterized by hepatocytic nodules separated by fibrous bands. The solitary central artery with high flow and the absent portal vein give the lesions their characteristic radiological appearance. The great majority of cases seen in daily practice conform to the above description. Additional small nodules (from 1-2 up to 15-20 mm in diameter) detected by imaging techniques or on macroscopic examination may be difficult to identify as representing FNH if they lack the key features of FNH as defined in larger lesions. The aim of this study was to characterize these small nodules, and to compare their characteristics with those of typical lesions of FNH present in the same specimens.ResultsEight patients underwent hepatic resections for the removal of a mass lesion ("nodule") diagnosed as: FNH (1 patient); nodules of unknown nature (5 patients); or nodules thought to be adenoma or hepatocellular carcinoma (2 patients). Six nodules out of 9 discovered by imaging techniques met histopathological criteria for the diagnosis of typical FNH, at least in parts of the nodule; 2 nodules corresponded to a minor form of FNH ("subtle FNH") and one nodule to a steatotic area. Although FNH was thought to be found in a normal or nearly normal liver, this study revealed that, in addition, there were various types of small FNH-like nodules and vascular abnormalities in the liver with typical FNH nodule. The various types of small FNH-like nodules (n = 8, diameter 2 to 20 mm) consisted of the association to various degrees of numerous and/or enlarged arteries in portal tracts or in septa, with hyperplastic foci, slight ductular reaction, and regions of sinusoidal dilatation, accompanied by thin fibrous bands. Vascular abnormalities consisted of unpaired arteries, portal tracts with arteries larger than the associated bile duct, and regions of sinusoidal dilatation.ConclusionsAlthough these small nodules can be considered as insufficient type or abortive forms of FNH, or adenoma, they can be precursors of the large mass lesions in which FNH was recognized and defined.