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• W2912237348 abstract "Congenital absence of the portal vein (CAPV), or Abernethy malformation, is a rare malformation of the splanchnic venous system. CAPV has been associated with liver neoplasms, cardiac anomalies, and musculoskeletal abnormalities. In this case report, a patient with Abernethy malformation and a hepatic mass is described. The mass was visualized under EUS and underwent FNA which may represent the first Abernethy malformation visualized on EUS. Case: 54 yo female with idiopathic cardiomyopathy s/p cardiac transplant who presented to an outside hospital with a 3-day progressive cognitive decline. A head CT revealed an abnormality described as a mass or aneurysm. The patient was transferred to the University Hospital with confusion but otherwise stable. A head MRI showed an unruptured, 1 cm, right middle cerebral artery aneurysm. Serum chemistries, complete urine drug screen, UA and culture, blood cultures, chest x-ray, and lumbar puncture were obtained and only remarkable for an elevated alkaline phosphatase (306 U/L) and ammonia (74 mcmol/L). Viral hepatitis panel, AMA, and ANA were negative. An EEG showed diffuse bilateral slowing, consistent with encephalopathy. Lactulose therapy was initiated. An abdominal ultrasound revealed an absence of her portal vein and a 3.8 × 4.0 cm echogenic mass in the right lobe of her liver. An abdominal CT showed heterogenous densities in the right and left lobes, possible cirrhosis, and no portal vein. A mesenteric angiogram showed the superior mesenteric vein and splenic vein flowing directly into the IVC with no portal vein. A CT-guided biopsy of the hepatic lesion showed periportal fibrosis with no malignancy or cirrhosis. The patient's mental status improved with lactulose. Follow-up of her hepatic lesions by ultrasound revealed no increase in size and serial alpha-feta proteins were normal. EUS was performed and showed gastric varices, absent portal vein, and a 1.5 cm left lobe hyperechoic lesion, which underwent FNA revealing only benign hepatocytes, ductal cells, and stromal cells. The patient continues to be monitored closely with no recurrent encephalopathy or increase in the hepatic mass. Conclusions: This case demonstrates a rare finding of Abernethy malformation in an adult. Even more rare, this case utilized EUS with FNA to visualize the malformation and biopsy the hepatic mass. With the increasing use of EUS, more rare pathologies may be identified in the future, improving our diagnostic abilities." @default.
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• W2912237348 date "2007-09-01" @default.
• W2912237348 modified "2023-09-26" @default.
• W2912237348 title "Abernethy Malformation – A Rare Case and Method of Detection" @default.
• W2912237348 doi "https://doi.org/10.14309/00000434-200709002-00539" @default.
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