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

Published online by Cambridge University Press:  01 November 1999

Karen H Harum ,
Alexander H Hoon ,
Gregory J Kato ,
James F Casella ,
Steven N Breiter  and
Michael V Johnston
Karen H Harum
Affiliation:
The Johns Hopkins University School of Medicine, Baltimore, MD, USA
Alexander H Hoon
Affiliation:
The Johns Hopkins University School of Medicine, Baltimore, MD, USA
Gregory J Kato
Affiliation:
The Johns Hopkins University School of Medicine, Baltimore, MD, USA
James F Casella
Affiliation:
The Johns Hopkins University School of Medicine, Baltimore, MD, USA
Steven N Breiter
Affiliation:
The Johns Hopkins University School of Medicine, Baltimore, MD, USA
Michael V Johnston
Affiliation:
The Johns Hopkins University School of Medicine, Baltimore, MD, USA
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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.

Type
Case Reports
Information
Developmental Medicine and Child Neurology , Volume 41 , Issue 11 , November 1999 , pp. 777 - 780
Copyright
© 1999 Mac Keith Press

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