Severe congenital protein C deficiency in neonate: A rare case report

Pham Thao Nguyen, Le Thi Ha, Tran Huu Dat, Dao Thi Hien, Bui Thi Hai, Nguyen Thi Duyen, Phung Cong Sang, Nguyen Thi Quynh Nga

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Abstract

Severe congenital protein C deficiency is a rare genetic disorder that causes a life-threatening hypercoagulable state, leading to thrombosis, necrosis, and widespread bleeding in the neonatal period. We report a case of a full-term (38-weeks) male newborn who developed purpura fulminans, thrombocytopenia, and severe coagulopathy within 24 hours after birth. Laboratory tests confirmed a severe protein C deficiency (< 10%) due to a heterozygous PROC gene mutation. The infant was treated with fresh frozen plasma (FFP), anticoagulation therapy, and local wound care, resulting in clinical improvement. This case highlights the importance of early diagnosis, intensive treatment, and long-term anticoagulation in managing severe congenital protein C deficiency.

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References

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