Neuropediatrics 2006; 37 - PS1_4_6
DOI: 10.1055/s-2006-943583

INHERITED THROMBOPHILIA AS A RISK FACTOR FOR STROKE IN SERBIAN CHILDREN

V Brankovic-Sreckovic 1, VM Rasic 1, V Djordjevic 1, L Rakicevic 1
  • 1Clinic for Child Neurology and Psychiatry, Belgrade, Serbia, Serbia and Montenegro

Objectives: The risk factors for arterial ischemic stroke (AIS) in children are well defined and often multifactorial. Despite extensive evaluations, its etiology remains unknown in approximately one third of children. The purpose of this study was to evaluate the frequency of genetic prothrombotic risk factors in children with AIS.

Methods: In the last 11 years (1994–2005) 48 children were diagnosed as having AIS using clinical and radiological criteria. Patients with neonatal infarction were not included in the study. 30 children with AIS and 120 consecutive healthy blood donors were tested for the presence of the FV Leiden and FII G20210A mutations, and the MTHFR C677T variant. Statistical analysis was done using SPSS (P value; OR and 95% CI).

Results: There were 30 males and 18 females (aged 0.5 to 16 years, mean 8.4 yr). Multiple causes were identified in 10 (20.8%) children. In 27.1% of the children risk factors were not obvious. Of 48 cases 30 were available for genetic testing. The odds ratio for stroke was not significantly increased for the FV Leiden (OR 0.58; 95%CI 0.07–4.88) and FII G20210A (OR 1.70; 95%CI 0.31–9.26) heterozygous and MTHFR homozygous and heterozygous (OR 0.56/2.2; 95%CI 0.12–2.62/0.96–5.02) carriers. After correction for cases with known etiology, the heterozygosity for MTHFR C677T was more frequently present in patients with no obvious cause of stroke (69.2% patients, 39.2% controls- p=0.037) while the others' odds ratios were not statistically significant.

Conclusion: Our results demonstrate that the distinct genetic prothrombotic abnormalities probably do not play a significant role in the etiology of AIS in children. It should be emphasized that in children with unknown etiology, heterozygosity for the C677T genotype of MTHFR was significantly higher in patients than in controls. Thus, further studies with a greater number of cases are needed to establish whether there is a causal relationship between inherited thrombophilia and AIS in children.