Abstract
Coexistence of protein C deficiency and prothrombin gene mutation causing neonatal thrombosis
Highlights
A 23 days old male baby presented with features of severe shock and respiratory distress
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
Protein C is a glycoprotein synthesized in liver and is vitamin K dependent
Summary
A 23 days old male baby presented with features of severe shock and respiratory distress. He was born by caesarean section at term to non consanguineous parents. The affected vessels were 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
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