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.
%0 Journal Article
%1 Harum1999a
%A Harum, K. H.
%A Hoon, A. H.
%A Kato, G. J.
%A Casella, J. F.
%A Breiter, S. N.
%A Johnston, M. V.
%D 1999
%J Dev Med Child Neurol
%K Aortic Diseases; Cerebral Palsy; Child, Preschool; Coronary Thrombosis; Factor V; Female; Homozygote; Humans; Infant, Newborn; Leukomalacia, Periventricular; Magnetic Resonance Imaging; Point Mutation; Polymerase Chain Reaction
%N 11
%P 777--780
%T Homozygous factor-V mutation as a genetic cause of perinatal thrombosis and cerebral palsy.
%V 41
%X 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.
@article{Harum1999a,
abstract = {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.},
added-at = {2014-07-19T20:25:29.000+0200},
author = {Harum, K. H. and Hoon, A. H. and Kato, G. J. and Casella, J. F. and Breiter, S. N. and Johnston, M. V.},
biburl = {https://www.bibsonomy.org/bibtex/2ddbae740324061395bf3c4ebb81c7fe9/ar0berts},
groups = {public},
interhash = {a207d821a41d5fd48582e06853e569cb},
intrahash = {ddbae740324061395bf3c4ebb81c7fe9},
journal = {Dev Med Child Neurol},
keywords = {Aortic Diseases; Cerebral Palsy; Child, Preschool; Coronary Thrombosis; Factor V; Female; Homozygote; Humans; Infant, Newborn; Leukomalacia, Periventricular; Magnetic Resonance Imaging; Point Mutation; Polymerase Chain Reaction},
month = Nov,
number = 11,
pages = {777--780},
pmid = {10576642},
timestamp = {2014-07-19T20:25:29.000+0200},
title = {Homozygous factor-V mutation as a genetic cause of perinatal thrombosis and cerebral palsy.},
username = {ar0berts},
volume = 41,
year = 1999
}