Chulalongkorn Medical Journal


Abernethy malformation was demonstrated in a 10-year-old boy, whose underlying disease of blue rubber bleb nevus syndrome (BRBNS) was achieved first-time-right diagnosis by cutaneous stigmata, presenting with persistent gross hematuria and hemodynamic instability secondary to vesical venous malformation. Abdominal computed tomography (CT) imaging was obtained to explore identifiable and treatable causes of the active bleeding, revealing Abernathy malformation and unusual visceral slow-flow vascular malformations including venous varicosities and splenic lymphangiomatosis. This is a first case report of the coincidence of Abernathy malformation and BRBNS. Imaging played an important role in detection of clinically occult congenital portal venous anomalies and visceral vascular malformations.



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