NEONATAL HOMOZYGOUS PROTEIN C DEFICIENCY. PROBLEMS IN DIAGNOSIS AND MANAGEMENT
A newborn with a large rapidly necrotizing hematoma in the right buttock had initial coagulation studies suggestive of disseminated intravascular clotting. Negative cultures, development of other ecchymotic lesions in the scalp, eyelid, and elbows and response to fresh frozen plasma allowed the clinical diagnosis of homozygous protein C deficiency that was confirmed by protein C levels of .00 U/ml immunological and .085 U/ml by coagulation assay. Immunologic.protein C assays in the family showed: .41 U/ml in the mother, .38 U/ml in the father, and .55 U/ml in the paternal grandfather with similar functional assay values. CT scans showed thrombosis of dural venous sinuses with bilateral infarcts and possible subarachnoid hemorrhage resulting in rapidly developing hydrocephalus. Cataracts and synechiae developed in both eyes as a result of hemorrhage at birth. Further episodes of thrombosis and hemorrhage were prevented by administration of fresh frozen plasma every 12 hours. Problems ensued with development of hyper-proteinemia, hypercalcemia and hyperphosphatemia. A shunt to control the hydrocephalus became infected as did the catheter for fresh frozen plasma administration. Coumadin administration concurrent with fresh frozen plasma administration was difficult to regulate; phenobarbital given for subclinical status epilepticus interfered with Coumadin. Factor VII assays were used to regulate the concomitant administration of Coumadin and fresh frozen plasma. At 8 months a new episode of purpura fulminans caused the patient's demise. Skin biopsy of the lesions at birth and autopsy sections of new skin lesions showed thrombosis of subcutaneous adipose tissue veins with surrounding hemorrhage. The pathologic and dermatologic findings were identical to those of Coumadin-induced skin necrosis.