Summary
A relapsing clinical syndrome of skin lesions and disseminated intravascular coagulation
(DIC) that showed remission with the infusion of fresh frozen plasma is described
in a newborn infant with homozygous deficiency of protein C antigen.
This patient presented since birth a recurrent clinical picture of DIC and ecchymotic
skin lesions that resembled typical ecchymosis except for the fact that they showed
immediate improvement with the administration of fresh frozen plasma. Using an enzyme
linked immunosorbent assay method, the determination of protein C antigen levels in
the patient, without ingestion of coumarin drugs, showed very low values (<1%).
No other deficiencies in the vitamin-K-dependent factors or in anti thrombin III,
antiplasmin, and plasminogen were found. Seven relatives of the infant had heterozygous
deficiency in protein C antigen (values between 40-55%), without clinical history
of venous thrombosis. The pedigree analysis of this family suggests an autosomal recessive
pattern of inheritance for the clinical phenotype, although an autosomal dominant
pattern has been postulated until now in other reported families.
We conclude that our patient has a homozygous deficiency in protein C and this homozygous
state may be compatible with survival beyond the neonatal period.
Keywords
Protein C deficiency - Disseminated intravascular coagulation - Anticoagulants - ELISA
