A Neonate With Hombzygous Protein C Deficiency With A Homozygous Arg178trp Mutation
Journal of Pediatric Hematology Oncology(2008)
Abstract
Homozygous protein C deficiency affects approximately 1/400,000 to 1/1,000,000 live births. Homozygous protein C deficiency is associated with catastrophic and fatal purpura fulminans-like or thrombotic complications and disseminated intravascular coagulation. In the present patient, genetic study revealed Arg178Trp, a mutation found widely in European population; but this is the first case of homozygous Arg178Trp mutation who suffered from catastrophic purpura fulminans phenotype.
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Key words
homozygous protein C deficiency,Arg178Trp mutation,purpura fulminans
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