Abernethy malformation as a rare cause of rectal bleeding and scrotal varicocele in childhood

Abernethy malformation is a rare syndrome characterized by a congenital portosystemic shunt and the partial or total absence of the portal vein. This case report describes a 9-year-old male patient with type 1 Abernethy malformation presenting with scrotal varicocele and rectal bleeding. The patient presented with complaints of scrotal swelling and rectal bleeding. Physical examination revealed scrotal varicose veins, and laboratory tests showed no abnormalities except for a minimally prolonged INR. Radiological evaluation identified a portosystemic shunt between the splenic vein and the left iliac vein, leading to the diagnosis of type 1 Abernethy malformation. Further investigations for other congenital anomalies revealed no additional findings. Abernethy malformation is an extremely rare condition that may present with a variety of symptoms. In cases with findings such as rectal bleeding and scrotal varicocele, indicative of systemic collateral dilatation, Abernethy malformation should be considered among the rare differential diagnoses.

Keywords: Abernethy malformation, childhood varicosel, congenital extrahepatic portosystemic shunt, rectal bleeding, scrotal varicosel.