Protein C deficiency.
Severe homozygous protein C deficiency is a rare but serious problem in the newborn, with a clinical presentation of purpura fulminans. We have presented such a case in an 1,870 gm female neonate. Salient clinical findings in this case include DIC associated with extensive ecchymosis and subsequent gangrene of the skin, thrombotic complications that began on the third day of life. There was no precipitating infection. The progressive gangrenous necrosis of heel and toes was refractory to heparin therapy, but there was clinical improvement after treatment with fresh frozen plasma. Our patient's level of protein C antigen was less than 3% (normal 70% to 130%). Levels of other vitamin-K-dependent factors, as well as factor V, factor VIIIC, and antithrombin III were normal. A heterozygous protein C deficiency was documented in the mother and father. Presently the child is receiving warfarin sodium (Coumadin) therapy and is clinically stable.
D000293:Adolescent; D003937:Diagnosis, Differential; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011486:Protein C / Q000235:genetics; D020151:Protein C Deficiency; D011517:Prothrombin Time; D011693:Purpura / Q000175:diagnosis
D011486:Protein C