A Novel Protein C Mutation Causing Neonatal Purpura Fulminans.

Usha Devi R, Mangala Bharathi S, Nikesh Kawankar

Indian pediatrics 2016 Nov 15

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Neonatal purpura fulminans due to congenital protein C deficiency is a rare disorder. A four-day-old neonate presented with multiple necrotic skin lesions with abnormal coagulation profile. 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. Molecular diagnosis and prenatal counseling in neonatal purpura fulminans are vital considering the poor outcome.

Citation

Usha Devi R, Mangala Bharathi S, Nikesh Kawankar. A Novel Protein C Mutation Causing Neonatal Purpura Fulminans. Indian pediatrics. 2016 Nov 15;53(11):1019-1021