title: Neonatal purpura fulminans in association with factor V R506Q mutation.
abstract: We report a case of neonatal purpura fulminans associated with activated protein C resistance. Analysis of DNA demonstrated heterozygosity for the factor V R506Q mutation. The neonate, at 8 hours of age, had progressive purpuric skin lesions and later had evidence of microvascular, hemorrhagic thrombosis in the brain. The baby was treated with fresh frozen plasma infusions and had complete resolution of the skin lesions and no apparent long-term complications. We suggest that activated protein C resistance testing be included in the initial evaluation of neonatal purpura fulminans.
authors.affiliation: Department of Pediatrics, University of Michigan Medical School, Ann Arbor, USA.
authors.forename: S W
authors.initials: SW
authors.lastname: Pipe
authors.forename: A H
authors.initials: AH
authors.lastname: Schmaier
authors.forename: W C
authors.initials: WC
authors.lastname: Nichols
authors.forename: D
authors.initials: D
authors.lastname: Ginsburg
authors.forename: M E
authors.initials: ME
authors.lastname: Bozynski
authors.forename: V P
authors.initials: VP
authors.lastname: Castle
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D002542:Intracranial Embolism and Thrombosis / Q000097:blood; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011486:Protein C / Q000378:metabolism; D011517:Prothrombin Time; D011693:Purpura / Q000097:blood / Q000235:genetics*
chemical_list: D011486:Protein C; D005165:Factor V; D004247:DNA