Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Oct 7, 2020; 26(37): 5731-5744
Published online Oct 7, 2020. doi: 10.3748/wjg.v26.i37.5731
Abernethy syndrome in Slovenian children: Five case reports and review of literature
Jerneja Peček, Petja Fister, Matjaž Homan
Jerneja Peček, Division of Paediatrics, University Medical Centre Ljubljana, Ljubljana 1000, Slovenia
Petja Fister, Department of Neonatology, Division of Paediatrics, University Medical Centre Ljubljana; Faculty of medicine, University of Ljubljana, Ljubljana 1000, Slovenia
Matjaž Homan, Department of Gastroenterology, Hepatology and Nutrition, Division of Paediatrics, University Medical Centre Ljubljana; Faculty of Medicine, University of Ljubljana, Ljubljana 1000, Slovenia
Author contributions: All authors equally contributed to this paper with conception and design of the study, acquisition and interpretation of data, literature review and analysis, drafting and critical revision and editing; all authors approved the final version of the manuscript for submission.
Informed consent statement: Informed written consent was obtained from the patients’ legally authorized representatives for publication of this case series.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Corresponding author: Matjaž Homan, MD, PhD, Associate Professor, Doctor, Department of Gastroenterology, Hepatology and Nutrition, University Children’s Hospital, Faculty of Medicine, University of Ljubljana, Bohoričeva 20, Ljubljana 1000, Slovenia.
Received: May 30, 2020
Peer-review started: May 30, 2020
First decision: July 29, 2020
Revised: August 11, 2020
Accepted: September 17, 2020
Article in press: September 17, 2020
Published online: October 7, 2020

Abernethy syndrome is a congenital vascular anomaly in which the portal blood completely or partially bypasses the liver through a congenital portosystemic shunt. Although the number of recognized and reported cases is gradually increasing, Abernethy syndrome is still a rare disease entity, with an estimated prevalence between 1 per 30000 to 1 per 50000 cases. With this case series, we aimed to contribute to the growing knowledge of potential clinical presentations, course and complications of congenital portosystemic shunts (CPSS) in children.


Five children are presented in this case series: One female and four males, two with an intrahepatic CPSS and three with an extrahepatic CPSS. The first patient, who was diagnosed with an intrahepatic CPSS, presented with gastrointestinal bleeding, abdominal pain and hyperammonaemia at six years of age. He underwent a percutaneous embolization of his shunt and has remained asymptomatic ever since. The second patient presented with direct hyperbilirubinemia in the neonatal period and his intrahepatic CPSS later spontaneously regressed. The third patient had pulmonary hypertension and hyperammonaemia due to complete portal vein agenesis and underwent liver transplantation at five years of age. The fourth patient was diagnosed immediately after birth, when evaluated due to another congenital vascular anomaly, and the last patient presented as a teenager with recurrent bone fractures associated with severe osteoporosis. In addition, the last two patients are characterised by benign liver nodules; however, they are clinically stable on symptomatic therapy.


Abernethy syndrome is a rare anomaly with diverse clinical features, affecting almost all organ systems and presenting at any age.

Keywords: Abernethy syndrome, Abernethy malformation, Congenital portosystemic shunt, Liver vascular malformation, Children, Infants, Case report

Core Tip: Although congenital portosystemic shunts causing Abernethy syndrome are rare, the disease is complex, with the possibility of severe multi-organ complications. Searching for the congenital condition should therefore be included in the extended work-up of a newborn with other congenital, especially vascular malformations, neonatal cholestasis or hypergalactosemia. Furthermore, Abernethy syndrome should also be considered in older children presenting with pulmonary arterial hypertension, hyperammonemia and elevated liver enzymes. Additionally, according to our experience, a congenital portosystemic shunt should be considered in the differential diagnosis of children with unexplained hypoglycaemic episodes, gastrointestinal bleeding and osteoporosis with fat-soluble vitamin deficiency.