Congenital protein C deficiency causing major arterial thrombosis in a neonate

Abstract

A 9-day-old female baby presented with complaints of progressively worsening respiratory distress and lethargy. The parents were first cousins with history of multiple fetal losses in previous pregnancies. On examination, the baby was noted to be tachypnoeic, tachycardic with poor peripheral perfusion of the lower extremities. Femoral pulses on both sides were barely palpable. Echocardiography was normal. But cardiac catheterisation revealed the presence of an intraluminal obstruction of the distal aorta by a large 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 common iliac artery and 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 responsible for the arterial thrombosis. This is an extremely unusual presentation, hardly ever been reported before.