Congenital extrahepatic portosystemic shunt,also known as Abernethy malformation, is a rare congenital malformation. It causes shunting of blood through a communication between the portal and systemic veins such as a ...Congenital extrahepatic portosystemic shunt,also known as Abernethy malformation, is a rare congenital malformation. It causes shunting of blood through a communication between the portal and systemic veins such as a patent ductus venous. We report 3 cases of Abernethy malformation complicated by the development of hepatocellular carcinoma. Additionally, we comprehensively reviewed all previously reported cases and highlighted common features that may help in early diagnosis and appropriate management.Patients with Abernethy malformation may have an increased propensity to develop hepatocellular carcinoma. All 5 previously reported cases, plus the three of our patients, have a type 1（complete） shunt suggesting a role for absent portal blood flow in the pathogenesis of hepatocellular carcinoma. Congenital extrahepatic portosystemic shunt should be sought for in cases with raised serum ammonia, hepatic encephalopathy or hepatocellular carcinoma in the absence of cirrhosis.展开更多
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 report...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.展开更多
文摘Congenital extrahepatic portosystemic shunt,also known as Abernethy malformation, is a rare congenital malformation. It causes shunting of blood through a communication between the portal and systemic veins such as a patent ductus venous. We report 3 cases of Abernethy malformation complicated by the development of hepatocellular carcinoma. Additionally, we comprehensively reviewed all previously reported cases and highlighted common features that may help in early diagnosis and appropriate management.Patients with Abernethy malformation may have an increased propensity to develop hepatocellular carcinoma. All 5 previously reported cases, plus the three of our patients, have a type 1（complete） shunt suggesting a role for absent portal blood flow in the pathogenesis of hepatocellular carcinoma. Congenital extrahepatic portosystemic shunt should be sought for in cases with raised serum ammonia, hepatic encephalopathy or hepatocellular carcinoma in the absence of cirrhosis.
文摘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.
