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Different Additional Risk Factors for Cerebral Infarctions Associated With the Factor V Leiden Mutation in a Family

Department of Microbiology "G. Gennimatas'' General Hospital Athens, Greece, vvoudris{at}otenet.gr.

Konstantinos A. Voudris, MD

Department of Neurology "P & A Kyriakou'' Children's Hospital Athens, Greece

Yvonne Dimitriou, MD

Third Department of Internal Medicine "NIMITS'' Hospital Athens, Greece

Angeliki Skardoutsou, MD

Second Department of Pediatrics University of Athens "P & A Kyriakou'' Children's Hospital Athens, Greece

Sotiria Mastroyianni, MD

Department of Neurology "P & A Kyriakou'' Children's Hospital Athens, Greece

Several cases with cerebral infarctions associated with the factor V Leiden mutation have been reported. However, bearing in mind the large number of asymptomatic individuals with the factor V Leiden mutation, additional risk factors for cerebral infarctions should be considered. In this report, two siblings with cerebral infarctions associated with a combination of heterozygous factor V Leiden mutation and different additional exogenous and endogenous thrombogenic risk factors are described. Respiratory problems in the perinatal period and increased lipoprotein (a) concentrations in the first patient and an episode of gastroenteritis from Shigella infection and persistent high titers of serum anticardiolipin and ß₂-glycoprotein I antibodies in the second patient were recorded as additional thrombogenic risk factors. Furthermore, both patients were found to be heterozygous for the methylenetetrahydrofolate reductase gene C677T mutation. These findings suggest that even in the same family, different additional thrombogenic risk factors can be present in infants with cerebral infarctions associated with the factor V Leiden mutation. An extensive search of additional circumstantial and genetic thrombogenic risk factors should be useful for prophylaxis and prognosis of these infants with cerebral infarctions associated with the factor V Leiden mutation and of their related family members. To our knowledge, the second patient in this study is the first patient reported to have cerebral infarctions associated with the combination of the factor V Leiden mutation and persistent high titers of serum ß₂-glycoprotein I antibodies. (J Child Neurol 2006;21:903—907; DOI 10.2310/7010.2006.00198).

Journal of Child Neurology, Vol. 21, No. 10, 903-907 (2006)
DOI: 10.1177/08830738060210100601


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