Abernethy syndrome in Slovenian children: Five case reports and review of literature

Abstract

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

Case report: Congenital extrahepatic portocaval shunt presenting as pulmonary arterial hypertension in a pregnant patient

“…PAH associated with CEPS can be reversible. Shunt closure should be considered in all patients with Type II malformation as it may significantly reduce complications, including the worsening of PAH 3,6,7,11 . After the correction of the portocaval shunt, an overflow of vasoactive substances is stopped and PAH gradually resolves 6,7 .…”

Case Report: Membranoproliferative Glomerulonephritis, a Rare Clinical Manifestation of Abernethy Malformation Type II

“…Third, due to portacaval shunt of Abernethy malformation, extrahepatic manifestations include hepatic encephalopathy, pulmonary hypertension, hepatopulmonary syndrome, and glomerulonephritis (8,(14)(15)(16). Fourth, gastrointestinal hemorrhage and subcutaneous varicose veins of the abdominal wall which are caused by the obstruction of blood in the esophageal, periumbilical, and rectal venous plexuses (3,17).…”

“…Abernethy malformation, first described by John Abernethy in 1973 ( 1 ), has also been known as congenital extrahepatic portosystemic shunt. According to a clinical imaging report by Kopec et al ( 2 ) in 2016, it has been described in only 101 patients since 1973, with an estimated prevalence of between 1 per 30,000 to 1 per 50,000 cases ( 3 ). Caused by abnormal development of the umbilical vein and yolk vein in the embryo, it is regarded to be a rare anomaly involving the portal venous system, leading to abnormal shunt between the portal vein (PV) and inferior vena cava (IVC) ( 4 ).…”

“…The clinical manifestations of Abernethy malformation are diverse and vary significantly. Some are associated with serious complications, such as gastrointestinal hemorrhage, hepatic encephalopathy, and liver tumors, while others are found only on physical examination without overt clinical manifestations ( 3 , 6 , 7 ). Generally, type I Abernethy malformation is significantly more severe than type II, at least in term of hepatic complications ( 7 ).…”

Type II Abernethy malformation in an adult male patient—a rare and reversible cause of pulmonary hypertension: a case report with review of literature

“…Abernethy malformation (AM), a rare vascular anomaly, allows a direct flow of portal blood into the inferior vena cava (IVC) [1]. Its prevalence is estimated to be 1 per 30,000 live births [2]. Described initially by John Abernethy [3], its two variants, on the basis of porto-caval shunt, were subsequently illustrated by Morgan and Superina [4].…”