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.

Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report

“…There have been previous reports of protein C deficiency, presenting with neonatal purpura fulminans; intracranial hemorrhage or infarctions; and ophthalmologic complications including non-reactive pupils; leukocoria; vitreous, retinal, and subretinal hemorrhage; retinal arterial and venous occlusion; kidney infarction; and rarely, colonic perforation [ 1 , 9 , 10 ]. In most cases, treatments such as FFP replacement, LMWH, warfarin, and protein C concentrates were used effectively.…”

“…Some patients underwent surgical interventions such as ventriculoperitoneal shunt placement due to subarachnoid and intraventricular hemorrhage [ 11 ]. Liver transplantation may be considered a curative therapy for severe congenital protein C deficiency [ 1 ]. Early diagnosis and progressive treatment will lead to minimally invasive treatments and further reduce sequelae.…”

“…Protein C is a vitamin K-dependent plasma glycoprotein zymogen that is synthesized in hepatocytes and activated by the thrombin-thrombomodulin complex [ 1 ]. Protein C deficiency causes macro- and microvascular thrombosis [ 2 ].…”

“…On the other hand, patients with homozygous or compound heterozygous protein C deficiency have more severe symptoms that typically cause purpura fulminans and severe disseminated intravascular coagulation (DIC) with severe venous thromboembolism in the neonatal period. These patients have very low protein C activity [ 1 , 3 ].…”

Impact of Factor V Leiden G1691A, MTHFR C677T, and Prothrombin G20210 A mutations on the development of neonatal thrombosis

“…[12], [13]. Protein C and S deficiencies appear to be very frequent in ill, preterm newborns, and there is some limited evidence to suggest that these individuals have a higher risk of thrombosis [14]. Because of the transplacental transmission of antiphospholipid antibodies, thrombotic events in newborns have been observed sometimes in connection with maternal systemic lupus erythematosus [15].…”