Homozygous factor-V mutation as a genetic cause of perinatal thrombosis and cerebral palsy.
A 5-year old girl with cerebral palsy (CP), preterm birth, postnatal aortic thrombus, and cerebellar venous infarction who is homozygous for the thrombophilic factor-V Leiden (fVL) mutation is reported. The role of hereditary thrombophilic disorders in the development of perinatal vascular lesions such as aortic thrombi, renal-vein thrombosis, venous-sinus thrombosis, and cerebral infarction is unknown. This case report brings into question a potential association between fVL, perinatal vascular lesions, perinatal stroke, and CP.
Harum
K H
KH
The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. harum@kennedykrieger.org
Hoon
A H
AH
Kato
G J
GJ
Casella
J F
JF
Breiter
S N
SN
Johnston
M V
MV
D001018:Aortic Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D002547:Cerebral Palsy / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D003328:Coronary Thrombosis / Q000000981:diagnostic imaging / Q000235:genetics*; D005165:Factor V / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007969:Leukomalacia, Periventricular / Q000473:pathology; D008279:Magnetic Resonance Imaging; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D014463:Ultrasonography
D005165:Factor V