Published online Oct 7, 2020. doi: 10.3748/wjg.v26.i37.5731
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.
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.