Skip to main content

Advertisement

SpringerLink
Log in

Congenital extrahepatic portosystemic shunt: description of four cases and review of the literature

  • Case Report
  • Published:
Journal of Ultrasound Aims and scope Submit manuscript

Abstract

Congenital extrahepatic portosystemic shunt (CEPS), also known as Abernethy malformation, is a rare condition in which the splenomesenteric blood drains directly into a systemic vein, bypassing the liver through a complete or partial shunt. The diagnosis is frequently made during childhood in the setting of neonatal cholestasis, hypergalactosemia, failure to thrive, mental retardation or other congenital defects. In adulthood, CEPS is usually found incidentally during diagnostic work-up for abdominal pain, liver test abnormalities, liver nodules, portopulmonary hypertension, portopulmonary syndrome or portosystemic encephalopathy. The diagnosis depends on imaging and portal venography, but sometimes only liver biopsy can be resolutive, demonstrating the absence of venules within the portal areas. Here we report four recent cases of Abernethy malformation diagnosed in young adults, in which ultrasound (US) was the initial imaging technique and allowed to suspect the diagnosis. Furthermore, we reviewed clinical presentations, associated anomalies and treatment of the 310 cases of CEPS previously reported in the literature.

Sommario

Lo shunt portosistemico extraepatico congenito (CEPS), anche noto come malformazione di Abernethy, è una rara condizione patologica in cui il sangue venoso refluo dal distretto spleno-mesenterico drena direttamente nel circolo venoso sistemico, bypassando il fegato attraverso un shunt completo o parziale. La diagnosi viene posta frequentemente durante l’infanzia in presenza di colestasi neonatale, ipergalattosemia, scarso accrescimento o altri difetti congeniti. Durante l’età adulta la diagnosi di CEPS è spesso incidentale nel corso di accertamenti diagnostici per dolore addominale, alterazioni degli indici di funzionalità epatica, riscontro di lesioni focali epatiche, ipertensione porto-polmonare, sindrome porto-polmonare ed encefalopatia porto-sistemica. Le tecniche di imaging o la porto-venografia consentono solitamente di porre la diagnosi, ma in alcuni casi solo la biopsia epatica risulta dirimente, documentando l’assenza di strutture venose a livello degli spazi portali. Nel presente lavoro vengono presentati 4 casi di malformazione di Abernethy diagnosticati in giovani adulti, nei quali l’ultrasonografia (US) è stata la prima tecnica di immagine utilizzata consentendo di porre il sospetto diagnostico. Inoltre, abbiamo analizzato la presentazione clinica, le anomalie associate e le opzioni terapeutiche dei 310 casi di CEPS riportati in letteratura.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4

Similar content being viewed by others

References

  1. Abernethy J (1793) Account of two instances of uncommon formation in the viscera of the human body. Phil Trans R Soc Lond B Biol Sci 83:295–299

    Google Scholar 

  2. Hao Y, Hong X, Zhao X (2015) Congenital absence of the portal vein associated with focal nodular hyperplasia of the liver and congenital heart disease (Abernethy malformation): a case report and literature review. Oncol Lett 9(2):695–700

    Article  Google Scholar 

  3. Morgan BG, Superina R (1994) Congenital absence of the portal vein: two cases and a proposed classification system for portosystemic vascular anomalies. J Pediatr Surg 29:1239–1241

    Article  CAS  Google Scholar 

  4. Kobayashi N, Niwa T, Kirikoshi H et al (2010) Clinical classification of congenital extrahepatic portosystemic shunts. Hepatol Res 40:585

    Article  Google Scholar 

  5. Lautz TB, Tantemsapya N, Rowell E et al (2011) Management and classification of type II congenital portosystemic shunts. J Pediatr Surg 46(2):308–314

    Article  Google Scholar 

  6. Kanazawa H, Nosaka S, Miyazaki O et al (2015) The classification based on intrahepatic portal system for congenital portosystemic shunts. J Pediatr Surg 50(4):688–695

    Article  Google Scholar 

  7. Bernard O, Franchi-Abella S, Branchereau S et al (2012) Congenital portosystemic shunts in children: recognition, evaluation, and management. Semin Liver Dis 32(4):273–287

    Article  CAS  Google Scholar 

  8. Venkat-Raman N, Murphy KW, Ghaus K et al (2001) Congenital absence of portal vein in the fetus: a case report. Ultrasound Obstet Gynecol 17:71–75

    Article  CAS  Google Scholar 

  9. Jiang C, Ye W, Liu C et al (2015) Surgical ligation of portosystemic shunt to resolve severe hematuria and hemafecia caused by type II abernethy malformation. Ann Vasc Surg 29(5):1020.e11–1020.e16

    Article  Google Scholar 

  10. Gong Y, Zhu H, Chen J et al (2015) Congenital portosystemic shunts with and without gastrointestinal bleeding—case series. Pediatr Radiol 45(13):1964–1971

    Article  Google Scholar 

  11. Kalifa G, Brunelle F, Chaumont P (1978) Fistule porto-cavale congenitale. Ann Radiol 21:183–186

    CAS  PubMed  Google Scholar 

  12. Morse SS, Taylor KJW, Strauss EB et al (1986) Congenital absence of the portal vein in oculoauriculovertebral dysplasia (Goldenhar syndrome). Pediatr Radiol 16:437–439

    Article  CAS  Google Scholar 

  13. Sakamoto S, Shigeta T, Fukuda A et al (2012) The role of liver transplantation for congenital extrahepatic portosystemic shunt. Transplantation 93(12):1282–1287

    Article  Google Scholar 

  14. Bas S, Guran T, Atay Z et al (2015) Premature pubarche, hyperinsulinemia and hypothyroxinemia: novel manifestations of congenital portosystemic shunts (Abernethy Malformation) in Children. Horm Res Paediatr 83(4):282–287

    Article  CAS  Google Scholar 

  15. Sokollik C, Bandsma RH, Gana JC et al (2013) Congenital portosystemic shunt: characterization of a multisystem disease. J Pediatr Gastroenterol Nutr 56(6):675–681

    Article  Google Scholar 

  16. Uchino T, Matsuda I, Endo F (1999) The long-term prognosis of congenital portosystemic venous shunt. J Pediatr 135(2 Pt 1):254–256

    Article  CAS  Google Scholar 

  17. Ohno T, Muneuchi J, Ihara K et al (2008) Pulmonary hypertension in patients with congenital portosystemic venous shunt: a previously unrecognized association. Pediatrics 121(4):e892–e899

    Article  Google Scholar 

  18. Ohnishi Y, Ueda M, Doi H et al (2005) Successful liver transplantation for congenital absence of the portal vein complicated by intrapulmonary shunt and brain abscess. J Pediatr Surg 40(5):E-3

    Article  Google Scholar 

  19. Alvarez AE, Ribeiro AF, Hessel G et al (2002) Abernethy malformation: one of the etiologies of hepatopulmonary syndrome. Pediatr Pulmonol 34:391–394

    Article  Google Scholar 

  20. Pupulim LF, Vullierme MP, Paradis V et al (2013) Congenital portosystemic shunts associated with liver tumours. Clin Radiol 68(7):e362–e369

    Article  CAS  Google Scholar 

  21. Franchi-Abella S, Branchereau S, Lambert V et al (2010) Complications of congenital portosystemic shunts in children: therapeutic options and outcomes. J Pediatr Gastroenterol Nutr 51(3):322–330

    PubMed  Google Scholar 

  22. Sorkin T, Strautnieks S, Foskett P et al (2016) Multiple β-catenin mutations in hepatocellular lesions arising in Abernethy malformation. Hum Pathol 53:153–158

    Article  CAS  Google Scholar 

  23. Lisovsky M, Konstas AA, Misdraji J (2011) Congenital extrahepatic portosystemic shunts (Abernethy malformation): a histopathologic evaluation. Am J Surg Pathol 35(9):1381–1390

    Article  Google Scholar 

  24. Bruckheimer E, Dagan T, Atar E et al (2013) Staged transcatheter treatment of portal hypoplasia and congenital portosystemic shunts in children. Cardiovasc Intervent Radiol 36(6):1580–1585

    Article  Google Scholar 

  25. Kanamori Y, Hashizume K, Kitano Y et al (2003) Congenital extrahepatic portocaval shunt (Abernethy type 2), huge liver mass, and patent ductus arteriosus–a case report of its rare clinical presentation in a young girl. J Pediatr Surg 38(4):E15

    Article  Google Scholar 

  26. Tercier S, Delarue A, Rouault F et al (2006) Congenital portocaval fistula associated with hepatopulmonary syndrome: ligation vs liver transplantation. J Pediatr Surg 41:e1

    Article  Google Scholar 

  27. Iida T, Ogura Y, Doi H et al (2010) Successful treatment of pulmonary hypertension secondary to congenital extrahepatic portocaval shunts (Abernethy type 2) by living donor liver transplantation after surgical shunt ligation. Transpl Int 23(1):105–109

    Article  Google Scholar 

  28. Li H, Ma Z, Xie Y et al (2017) Recurrent hyperammonemia after abernethy malformation type 2 closure: a case report. Ann Hepatol 16(3):460–464

    Article  Google Scholar 

  29. Özden İ, Yavru A, Güllüoğlu M et al (2017) Transplantation for large liver tumors in the setting of Abernethy malformation. Exp Clin Transplant 15(Suppl 2):82–85

    PubMed  Google Scholar 

  30. Benedict M, Rodriguez-Davalos M, Emre S et al (2017) Congenital extrahepatic portosystemic shunt (Abernethy malformation type Ib) with associated hepatocellular carcinoma. Pediatr Dev Pathol 20(4):354

    Article  Google Scholar 

  31. Brasoveanu V, Ionescu MI, Grigorie R et al (2015) Living donor liver transplantation for unresectable liver adenomatosis associated with congenital absence of portal vein: a case report and literature review. Am J Case Rep. 19(16):637–644

    Article  Google Scholar 

  32. Sanada Y, Mizuta K, Niki T et al (2015) Hepatocellular nodules resulting from congenital extrahepatic portosystemic shunts can differentiate into potentially malignant hepatocellular adenomas. J Hepatobiliary Pancreat Sci 22(10):746–756

    Article  Google Scholar 

  33. Yilmaz C, Onen Z, Farajov R et al (2017) Live donor liver transplantation for a child presented with severe hepatopulmonary syndrome and nodular liver lesions due to Abernethy malformation. Pediatr Transplant. 21(2):e12874

    Article  Google Scholar 

  34. Murray CP, Yoo SJ, Babyn PS (2003) Congenital extrahepatic portosystemic shunts. Pediatr Radiol 33(9):614–620

    Article  Google Scholar 

  35. Ringe K, Schirg E, Melter M et al (2008) Congenital absence of the portal vein (CAPV). Two cases of Abernethy malformation type 1 and review of the literature (in German). Radiologe 48:493–502

    Article  CAS  Google Scholar 

  36. Stewart JK, Kuo WT, Hovsepian DM et al (2011) Portal venous remodeling after endovascular reduction of pediatric autogenous portosystemic shunts. J Vasc Interv Radiol 22(8):1199–1205

    Article  Google Scholar 

  37. Mistinova J, Valacsai F, Varga I (2010) Congenital absence of the portal vein–Case report and a review of literature. Clin Anat 23(7):750–758

    Article  Google Scholar 

  38. Athanasiadis A, Karavida A, Chondromatidou S et al (2015) Prenatal diagnosis of Abernethy malformation by three-dimensional ultrasonography. Ultrasound Obstet Gynecol 46(5):638–639

    Article  CAS  Google Scholar 

  39. Mi XX, Li XG, Wang ZR et al (2017) Abernethy malformation associated with Caroli’s syndrome in a patient with a PKHD1 mutation: a case report. Diagn Pathol 12(1):61

    Article  Google Scholar 

  40. Draghi F, Rapaccini GL, Fachinetti C et al (2007) Ultrasound examination of the liver: normal vascular anatomy. J Ultrasound 10(1):5–11

    Article  CAS  Google Scholar 

  41. Battaglia S, Fachinetti C, Draghi F et al (2010) Ultrasound examination of the liver: variations in the vascular anatomy. J Ultrasound 13(2):49–56

    Article  CAS  Google Scholar 

  42. Puccia F, Lombardo V, Giannitrapani L et al (2017) Case report: acute portal vein thrombosis associated with acute cytomegalovirus infection in an immunocompetent adult. J Ultrasound 20(2):161–165

    Article  Google Scholar 

  43. Ricci P, Cantisani V, Biancari F, Drud FM et al (2000) Contrast-enhanced color Doppler US in malignant portal vein thrombosis. Acta Radiol 41(5):470–473

    Article  CAS  Google Scholar 

  44. Sidhu PS, Cantisani V, Deganello A et al (2017) Role of contrast-enhanced ultrasound (CEUS) in paediatric practice: an EFSUMB position statement. Ultraschall Med 38(1):33–43

    PubMed  Google Scholar 

  45. Hwang M, Thimm MA, Guerrerio AL (2018) Detection of cavernous transformation of the portal vein by contrast-enhanced ultrasound. J Ultrasound 21(2):153–157

    Article  Google Scholar 

Download references

Author information

Author notes

  1. Francesca Romana Ponziani and Mariella Faccia contributed equally to this manuscript.

Authors and Affiliations

  1. Internal Medicine, Gastroenterology and Hepatology, Fondazione IRCCS Agostino Gemelli Hospital, Largo Agostino Gemelli 8, 00168, Rome, Italy

    Francesca Romana Ponziani, Mariella Faccia, Maria Assunta Zocco, Nicoletta De Matthaeis, Fabrizio Pizzolante, Laura Riccardi, Maurizio Pompili & Gian Ludovico Rapaccini

  2. Liver Disease Unit, San Camillo-Forlanini Hospital, Rome, Italy

    Valerio Giannelli & Adriano Pellicelli

  3. Division of General Surgery and Liver Transplantation, San Camillo Hospital, Rome, Italy

    Giuseppe Maria Ettorre

  4. Department of Radiology, Fondazione IRCCS Agostino Gemelli Hospital, Rome, Italy

    Anna Maria De Gaetano

Authors
  1. Francesca Romana Ponziani
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Mariella Faccia
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Maria Assunta Zocco
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Valerio Giannelli
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Adriano Pellicelli
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Giuseppe Maria Ettorre
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Nicoletta De Matthaeis
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Fabrizio Pizzolante
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Anna Maria De Gaetano
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Laura Riccardi
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Maurizio Pompili
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Gian Ludovico Rapaccini
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Mariella Faccia.

Ethics declarations

Conflict of interest

All authors declare no conflict of interest.

Ethical approval

This article does not contain any studies with human participants or animals performed by any of the authors.

Informed consent

Informed consent was obtained from participants included in the study.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Ponziani, F.R., Faccia, M., Zocco, M.A. et al. Congenital extrahepatic portosystemic shunt: description of four cases and review of the literature. J Ultrasound 22, 349–358 (2019). https://doi.org/10.1007/s40477-018-0329-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s40477-018-0329-y

Keywords

Search

Navigation