Homozygous factor-V mutation as a genetic cause of perinatal thrombosis and cerebral palsy

被引:30
作者
Harum, KH [1 ]
Hoon, AH [1 ]
Kato, GJ [1 ]
Casella, JF [1 ]
Breiter, SN [1 ]
Johnston, MV [1 ]
机构
[1] Johns Hopkins Univ, Sch Med, Baltimore, MD 21205 USA
关键词
D O I
10.1017/S0012162299001541
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
A 5-year old girl with cerebral palsy (GP), 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.
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页码:777 / 780
页数:4
相关论文
共 21 条
[1]  
Arias F, 1998, J Matern Fetal Med, V7, P277
[2]  
Balasa V, 1998, ANN NEUROL, V44, P543
[3]   CEREBRAL INFARCTS WITH ARTERIAL-OCCLUSION IN NEONATES [J].
BARMADA, MA ;
MOOSSY, J ;
SHUMAN, RM .
ANNALS OF NEUROLOGY, 1979, 6 (06) :495-502
[4]   MUTATION IN BLOOD-COAGULATION FACTOR-V ASSOCIATED WITH RESISTANCE TO ACTIVATED PROTEIN-C [J].
BERTINA, RM ;
KOELEMAN, BPC ;
KOSTER, T ;
ROSENDAAL, FR ;
DIRVEN, RJ ;
DERONDE, H ;
VANDERVELDEN, PA ;
REITSMA, PH .
NATURE, 1994, 369 (6475) :64-67
[5]  
BOVEN HHV, 1996, THROMB DIATH HAEMO, V75, P417
[6]  
CORRIGAN JJ, 1992, NELSON TXB PEDIAT, P1272
[7]  
DAHLBACK B, 1995, THROMB HAEMOSTASIS, V74, P139
[8]  
DEBUS O, 1998, FETAL NEONATAL EDITI, V78, P121
[9]   Inherited prothrombotic states and ischaemic stroke in childhood [J].
Ganesan, V ;
McShane, MA ;
Liesner, R ;
Cookson, J ;
Hann, I ;
Kirkham, FJ .
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1998, 65 (04) :508-511
[10]   Prevalence of the factor V Leiden mutation in children and neonates with thromboembolic disease [J].
Hagstrom, JN ;
Walter, J ;
Bluebond-Langner, R ;
Amatniek, JC ;
Manno, CS ;
High, KA .
JOURNAL OF PEDIATRICS, 1998, 133 (06) :777-781