DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20213658

A rare case of protein C mutation causing neonatal purpura fulminans

Abdul Tawab, Madhu George, Jino Joseph, Ann Mary Zacharias

Abstract


Congenital protein C deficiency presenting as purpura fulminans is a rare condition in neonates. It is a disorder with autosomal recessive inheritance and is caused by homozygous or compound heterozygous mutations in PROC gene. The authors report a case of autosomal homozygous PROC gene transversion mutation in a newborn baby born to third degree consanguineous parents who presented as purpura fulminans at birth. She had almost undetectable protein C levels. As protein C concentrate was not readily available, she was managed with low molecular weight heparin along with fresh frozen plasma. Despite our best efforts, baby succumbed to her illness on day 21 of life.  Autosomal recessive protein C deficiency should always be sought as an explanation for thrombotic disorders in the newborn with manifestations of disseminated intravascular coagulation.


Keywords


Purpura fulminans, Congenital protein C deficiency, PROC gene, Homozygous, Newborn, Thrombosis

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References


Goldenberg NA, Johnson MJ. Protein C deficiency. Haemophilia. 2008;14(6):1214-21.

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(4):528-34.

Price VE, Ledingham DL, Krümpel A, Chan AK. Diagnosis and management of neonatal purpura fulminans. Semin Fetal Neonatal Med. 2011;16(6):318-22.

Millar DS, Johansen B, Berntorp E, Minford A, Maggs P, Wensley R, et al. Molecular genetic analysis of severe protein C deficiency. Hum Genet. 2000;106(6):646-53.

Minford A, Behnisch W, Brons P, David M, Gomez N, Hertfelder HJ, et al. Subcutaneous protein C concentrate in the management of severe protein C deficiency--experience from 12 centres. Br J Haematol. 2014;164(3):414-21.

Sen K, Roy A. Management of neonatal purpura fulminans with severe protein C deficiency. Indian Pediatr. 2006;43(6):542-5.