A neonate with homozygous protein C deficiency with a homozygous Arg178Trp mutation.
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.
Ozlu
Ferda
F
Department of Neonatology, Cukurova University, Faculty of Medicine, Adana, Turkey. ferdaozlu72@yahoo.com
Kyotani
Mayu
M
Taskin
Erdal
E
Ozcan
Kenan
K
Kojima
Tetsuhito
T
Matsushita
Tadashi
T
Yapicioğlu
Hacer
H
Takagi
Akira
A
Saşmaz
Ilgen
I
Satar
Mehmet
M
Narli
Nejat
N
D001483:Base Sequence; D004211:Disseminated Intravascular Coagulation / Q000209:etiology; D005260:Female; D006720:Homozygote; D006801:Humans; D011695:IgA Vasculitis / Q000209:etiology*; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020151:Protein C Deficiency / Q000150:complications / Q000235:genetics* / Q000503:physiopathology