Sonography Aids in Diagnosis of Congenital Absence of Portal Vein in Patient With Marfan Syndrome: A Case Study

Abstract

Abernethy malformation is a very rare abdominal vascular malformation. It can be defined as portal blood flow bypassing the liver. Without treatment, it can lead to high levels of ammonia, which can cause symptoms such as confusion and predispose the patient to develop lesions within the liver. To date, only a few reports in the literature have been seen using sonography to aid in the diagnosis of this pathology, the majority being discovered in the pediatric population. In this case study, a liver sonogram identified no evidence of a portal vein. This finding was confirmed by a contrast-enhanced computed tomogram of the abdomen. This is a case report in which sonography aided in the incidental diagnosis of Abernethy malformation in a 38-year-old man with Marfan syndrome.