Severe congenital protein C deficiency in neonate: A rare case report
Main Article Content
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.
Article Details
Keywords
Coagulopathy, protein C deficiency, purpura fulminans
References
2. Padda IS, Patel P, Citla Sridhar D. Protein C and S. In: StatPearls. StatPearls Publishing; 2025. Accessed February 21, 2025. http://www.ncbi.nlm.nih.gov/books/NBK557814/
3. Eliwan H, Omer M, McKenna E, et al. Protein C Pathway in Paediatric and Neonatal Sepsis. Front Pediatr. 2022;9:562495. doi:10.3389/fped.2021.562495
4. Gupta A, Patibandla S. Protein C Deficiency. In: StatPearls. StatPearls Publishing; 2025. Accessed February 21, 2025. http://www.ncbi.nlm.nih.gov/books/NBK542222/
5. Dinarvand P, Moser KA. Protein C Deficiency. Arch Pathol Lab Med. 2019;143(10):1281-1285. doi:10.5858/arpa.20 17-0403-RS
6. Song U, Ryu YH, Hong K, et al. Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report. BMC Pediatr. 2021;21(1):1-6. doi:10.1186/s12887-021-02923-6
7. Jafarri SA, AlAttas KM, Bajawi SM, et al. Neonatal purpura fulminans in newborn with severe congenital protein C deficiency: Case report. J Dermatol Dermatol Surg. 2017;21(2):104-106. doi:10.1016/j.jdds.2016.1 0.001
8. Knoebl PN. Severe congenital protein C deficiency: the use of protein C concentrates (human) as replacement therapy for life-threatening blood-clotting complications. Biol Targets Ther. 2008;2(2):285-296.
9. Price VE, Ledingham DL, Krümpel A, et al. Diagnosis and management of neonatal purpura fulminans. Semin Fetal Neonatal Med. 2011;16(6):318-322. doi:10.1016/j.siny.2011.07.009
10. ClinVar. Accessed March 8, 2025. https://www.ncbi.nlm.nih.gov/clinvar/
11. Minford A, Brandão LR, Othman M, et al. Diagnosis and management of severe congenital protein C deficiency (SCPCD): Communication from the SSC of the ISTH. J Thromb Haemost. 2022;20(7):1735-1743. doi:10.1111/jth.15732
12. Ichiyama M, Inoue H, Ochiai M, et al. Diagnostic challenge of the newborn patients with heritable protein C deficiency. J Perinatol. 2019;39(2):212-219. doi:10.1038/s41372-018-0262-0
13. Salonvaara M, Kuismanen K, Mononen T, et al. Diagnosis and treatment of a newborn with homozygous protein C deficiency. Acta Paediatr. 2004;93(1):137-139. doi:10.1111/j.1651-2227.2004.tb00688.x