Coexistence of protein C deficiency and prothrombin gene mutation causing neonatal thrombosis

Abstract

There was no structural abnormality in echocardiography. But Cardiac catheterization revealed the presence of distal aortic obstruction by a large intraluminal thrombus. An attempt to dissolve the thrombus with urokinase infusion was unsuccessful. The affected vessels were then surgically explored and a large thrombus from the distal abdominal aorta was removed. Following this the child recovered uneventfully with return of lower limb pulsation. A thrombotic profile revealed the underlying diagnosis of congenital Protein C deficiency and a simultaneous thrombophilic prothrombin gene mutation. This is an extremely unusual presentation of neonatal thrombosis treated by successful vascular surgical procedure.