Severe Heterozygous Protein C Deficiency with Relapsing Purpura Fulminance from the Newborn Period

Abstract

We reported a case of inherited protein C deficiency with chronic relapsing purpura fulminance in the newborn period. He developed ecchymotic areas on the soles of his feet within a few hours after birth and then purpura fulminance developed. A diagnosis of disseminated intravascular coagulation was made and treated with exchange transfusions and repeated transfusions of fresh frozen plasma. His plasma protein C level was 17%. Two to 3 days after every plasma infusion, purpura fulminance and DIC developed so he received the oral anticoagulant (coumarin) every day. He also received Factor IX concentrates rich in protein C twice a week.
The patient has remained asymptomatic and free of complications untill the age of 4 while receiving these treatments.
The plasma protein C level of his father and mother were 80% and 38% respectively. These data suggest that this infant has a heterozygous protein C deficiency. The severity of the clinical findings is presumably related to the degree of the protein C deficiency.
This patient also developed histidinemia. We do not know if his histidinemia is related to the protein C deficiency.