A neonate with hombzygous protein C deficiency with a homozygous Arg178Trp mutation


Ozlu F., Kyotani M., TASKIN E., OZCAN K., Kojima T., Matsushita T., ...More

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, vol.30, no.8, pp.608-611, 2008 (SCI-Expanded) identifier identifier identifier

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.