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A novel protein C mutation causing neonatal purpura fulminans

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Abstract

Background

Neonatal purpura fulminans due to congenital protein C deficiency is a rare disorder.

Case characteristics

A four-day-old neonate presented with multiple necrotic skin lesions with abnormal coagulation profile.

Intervention and outcome

Skin lesions responded to repeated plasma transfusions but the neonate developed bilateral retinal detachment. A novel homozygous PROC gene mutation was noted in the neonate.

Message

Molecular diagnosis and prenatal counseling in neonatal purpura fulminans are vital considering the poor outcome.

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References

  1. Goldenberg NA, Manco-Johnson MJ. Protein C deficiency Haemophilia. 2008;14:1214–21.

    Article  CAS  PubMed  Google Scholar 

  2. 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;2:285–96.

    Article  CAS  Google Scholar 

  3. Price VE, Ledingham DL, Krümpel A, Chan AK. Diagnosis and management of neonatal purpura fulminans. Semin Fetal Neonatal Med. 2011;16:318–22.

    Article  CAS  PubMed  Google Scholar 

  4. Lind B, van Solinge WW, Schwartz M, Thorsen S. Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. Blood. 1993;82:2423–32.

    CAS  PubMed  Google Scholar 

  5. Kirkinen P, Salonvaara M, Nikolajev K, Vanninen R, Heinonen K. Antepartum findings in fetal protein C deficiency. Prenat Diagn. 2000;20:746–9.

    Article  CAS  PubMed  Google Scholar 

  6. Marlar RA, Montgomery RR, Broekmans AW. Diagnosis and treatment of homozygous protein C deficiency. Report of the Working Party on Homozygous Protein C Deficiency of the Subcommittee on Protein C and Protein S, International Committee on Thrombosis and Haemostasis. J Pediatr. 1989;114:528–34.

    Article  CAS  PubMed  Google Scholar 

  7. De Kort EHM, Vrancken SLAG, van Heijst AFJ, Binkhorst M, Cuppen MPJM, Brons PPT. Long-term subcutaneous protein C replacement in neonatal severe protein C deficiency. Pediatrics. 2011;127: e1338–42.

    Article  PubMed  Google Scholar 

  8. Lee MJ, Kim KM, Kim JS, Kim YJ, Lee YJ, Ghim TT. Long-term survival of a child with homozygous protein C deficiency successfully treated with living donor liver transplantation. Pediatr Transplant. 2009;13:251–4.

    Article  PubMed  Google Scholar 

  9. Monagle K, Ignjatovic V, Hardikar W, Newall F, Monagle P. Long-term follow-up of homozygote protein C deficiency after multimodal therapy. J Pediatr Hematol Oncol. 2014;36:e452–5.

    Article  PubMed  Google Scholar 

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Author information

Authors and Affiliations

  1. Department of Neonatology, Institute of child health and hospital for children, Egmore, Chennai, 600008, India

    Usha Devi R, Mangala Bharathi S & Nikesh Kawankar

Authors
  1. Usha Devi R
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  2. Mangala Bharathi S
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  3. Nikesh Kawankar
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Corresponding author

Correspondence to Mangala Bharathi S.

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Devi R, U., Bharathi S, M. & Kawankar, N. A novel protein C mutation causing neonatal purpura fulminans. Indian Pediatr 53, 1019–1021 (2016). https://doi.org/10.1007/s13312-016-0981-2

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  • DOI: https://doi.org/10.1007/s13312-016-0981-2

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