گرازش موردي C پورپوراي فولمينانت و ترومبوز مغزي در 3 نوزاد با كمبود هموزيگوت پروتيين

PURPURA FULMINANT AND CEREBRAL VENOUS THROMBOSIS IN 3 NEWBORNS WITH HOMOZYGOUS PROTEIN-C DEFICIENCY

Protein-c deficiency is a rare disease that is two form: Homozygote and Heterozygote. Protein-c circulates in healthy adult Plasma is valu ranging from 70-140 Percent. Protein-C level in newborns are 20-40 Percent of normal adult level. Newborn with homozygote protein-C deficiency almost always manifest skin necrosis, fulminant purpura after birth and or central nervous system thrombosis. Mutation is near the active site of the protein-C and DNA analysis shows double variant. Treatment option includes Fresh Frozen Plasma (FFP) and Protein-C concentrate in the acute phase follows by oral anticoagulant therapy. Three pateints were refered to Hazrat Ali Asghar Pediatrics Hospital. with developed skin necrosis on the abdomen and upper extrimitis, after 24 hours of life. One case had CNS hemorrhage after anti-coagulation therapy. Their protein-C activity were less than 1% and for their parents were less than 60%.