Abernethy malformation: a case report

Abstract

BackgroundAbernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India.Case presentationA 5-year-old female child presented with short history of jaundice. A provisional diagnosis of acute viral hepatitis was made in view of clinical presentation and local endemicity of viral hepatitis A. Persistence of jaundice on follow up after 4 weeks led to detailed investigations. Ultrasound and doppler study of abdomen revealed drainage of portal vein into inferior vena cava. CT angiography was performed which confirmed the diagnosis of Type 1 b Abernethy malformation without associated major anomalies. We discuss the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder.ConclusionThe treatment of the patients with congenital porto-systemic shunts depends on the site of the shunt, associated congenital anomalies and the extent of liver damage but the prognosis depends on the complications irrespective of anatomical type. However, the extent of associated abnormalities should not deter paediatricians to refer patients for treatment. Whenever possible closure of the shunt should be advised for cure or to prevent complications. Only symptomatic type I patients with absence of possibility to close the shunt may require liver transplant. Long-term follow-up is indicated for all patients.

Multiple regenerative nodular hyperplasia in the left infrarenal vena cava accompanied by abernethy malformation

“…In countries having neonatal screening programmes, some cases can be diagnosed by neonatal screening tests due to presence of galactosemia [11]. Many patients are diagnosed due to associated defects like heart disease, which are present in up-to 60 % of the patients [14].…”

An Interesting Case of Congenital Intrahepatic Porto-hepatic Shunt as a Cause of Unexplained Encephalopathy

“…In contrast, with type 2 extrahepatic shunt, the connection with the systemic circulation occurs via collateral veins of a partially patent portal vein. Type 2 extrahepatic shunts have a better prognosis as only some of the blood from the portal circulation drain into the systemic circulation [14][15].…”

Living Donor Liver Transplantation for Unresectable Liver Adenomatosis Associated with Congenital Absence of Portal Vein: A Case Report and Literature Review

“…The absence of portal hepatotrophic factors (such as insulin and glucagon [ 27 , 28 ] and epidermal growth factor [ 29 ]) due to CAPV is probably a risk factor for the development of nodular liver lesions: benign tumors such as hepatocellular adenomas, focal nodular hyperplasia (FNH) [ 30 ], and nodular regenerative hyperplasia (NRH) [ 31 ], as well as malignant ones, such as hepatoblastoma [ 32 ], and hepatocellular carcinoma (HCC) [ 8 ]. Another possible explanation is that initially benign tumors reactively arise in the areas of the liver with poor perfusion, due to the lack of portal venous blood flow [ 33 ].…”