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Updated: May 30, 2026

A Thrombotic Stroke Model Based On Transient Cerebral Hypoxia-ischemia
Published on: August 18, 2015
Inherited thrombophilia in childhood arterial stroke: data from Lebanon
Samar A Muwakkit1, Marianne Majdalani, Roula Hourani
1Department of Pediatrics and Adolescent Medicine, Hematology Oncology Service, American University of Beirut Medical Center, Beirut, Lebanon.
Insights
Factor V Leiden is a significant genetic risk factor for pediatric arterial ischemic stroke. Methylenetetrahydrofolate reductase (MTHFR) C677T mutation was common in children with recurrent strokes.
Area of Science:
- Pediatric Neurology
- Hematology
- Genetics
Background:
- Pediatric ischemic stroke leads to long-term cognitive and motor disabilities.
- Thrombophilia, a condition of abnormal blood clotting, is increasingly recognized as a contributing factor.
Purpose of the Study:
- To investigate the association between thrombophilia and arterial ischemic stroke in a pediatric cohort.
- To identify specific genetic thrombophilia variants prevalent in children with stroke.
Main Methods:
- Retrospective review of medical records for children diagnosed with arterial ischemic stroke.
- Genetic testing for thrombophilia, including Factor V Leiden and MTHFR C677T variants.
- Exclusion of patients with venous or perinatal stroke.
Main Results:
- Factor V Leiden was significantly associated with pediatric arterial ischemic stroke (P < 0.001).
- MTHFR C677T variant was prevalent in patients experiencing recurrent strokes.
- 62.5% of patients had at least one genetic thrombophilia polymorphism.
Conclusions:
- Factor V Leiden is a major genetic risk factor for pediatric arterial ischemic stroke.
- MTHFR C677T mutations may be linked to stroke recurrence in children.
- Genetic thrombophilia screening is important in evaluating pediatric stroke cases.
Abstract:
Pediatric ischemic stroke still represents a burden, and more than half of the survivors will experience cognitive or motor disabilities. The objective of this study was to investigate the role of thrombophilia in a cohort of children with arterial ischemic stroke. The records of infants and children with clinically and radiologically confirmed stroke were reviewed. Patients with venous or perinatal stroke were not included. Thirty-three patients were diagnosed with arterial ischemic stroke. The male/female ratio was 1.75:1. The median age was 4 years. The most frequent clinical manifestations were hemiparesis (54.5%) and seizures (33.3%). Genetic thrombophilia testing was available on 24 patients. Nine of the 24 patients (37.5%) were heterozygous for factor V Leiden. None of the patients carried the factor II G20210A variant. Ten patients (41.7%) were heterozygous and 3 (12.5%) were homozygous for methylenetetrahydrofolate reductase (MTHFR) C677T variant. Fifteen patients (62.5%) had one or more genetic polymorphism. Factor V Leiden was significantly associated with arterial ischemic stroke (P < 0.001). Stroke recurred in 2 children with multiple risk factors and MTHFR C677T mutation. Factor V Leiden is one of the major genetic risk factors for pediatric arterial ischemic stroke in Lebanon. MTHFR C677T was prevalent among patients with recurrent stroke.
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