A Novel Protein C Mutation Causing Neonatal Purpura Fulminans.

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.