A Novel Protein C Mutation Causing Neonatal Purpura Fulminans
Usha Devi R1, Mangala Bharathi S, Nikesh Kawankar
1Department of Neonatology, Institute of child health and hospital for children, Egmore, Chennai, India. Correspondence to: Dr Mangala Bharathi S, Department of Neonatology, Institute of child health and hospital for children, Egmore, Chennai-600008, India. drmangalabharathi@gmail.com.
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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