[Homozygous infant in a family with hereditary protein C deficiency].
We report on a female infant homozygous for protein C deficiency in a Jordanian family with frequent intermarriage. A protein C antigen of 0.6% was determined. The parents first noticed painful nodular indurations in subcutanous tissue as well as blue-red skin coloration at the age of 6 months. The girl repeatedly suffered from microthrombotic events in parts of the body with large areas of subcutaneous fat. In contrast, the numerous heterozygous carriers with partial protein C deficiency did not show an increased tendency to thrombosis. From the history an autosomal-recessive inheritance may be inferred. Other authors reporting on homozygous cases also postulate the presence of a recessive gene. It is of interest that the infant described here differs from those in other case reports in the age at manifestation of the disease. The homozygous infant showed the first symptoms as late as the age of 6 months, whereas other case reports describe severe symptoms immediately after birth. All symptoms of disease were treated successfully with prothrombin complex concentrate without additional heparin protection. Microthrombotic events subsided quickly, and a large ulcer in the left flank healed almost completely within 6 days.
D000328:Adult; D001779:Blood Coagulation Factors / Q000008:administration & dosage; D001780:Blood Coagulation Tests; D002648:Child; D005260:Female; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011486:Protein C / Q000008:administration & dosage; D020151:Protein C Deficiency; D013927:Thrombosis / Q000097:blood / Q000188:drug therapy / Q000235:genetics*
D001779:Blood Coagulation Factors; D011486:Protein C; C025667:prothrombin complex concentrates
Homozygoter Säugling in einer Sippe mit erblichem Protein C-Mangel.