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Combined Genetic Defects in a Child With Ischemic Stroke: Case Report

Department of Pediatric Neurology Faculty of Medicine Ankara University Ankara, Turkey

Dilara Içaasiolu, MD

Department of Pediatrics Faculty of Medicine Cumhuriyet University Sivas, Turkey

Hüseyin Qaksen, MD

Department of Pediatrics Faculty of Medicine Yüzüncü Yil University Van, Turkey

Nejat Akar, MD

Department of Pediatric Molecular Genetics Faculty of Medicine Ankara University Ankara, Turkey

A 10-year-old Turkish boy was admitted with mild right spastic hemiplegia. First, he experienced sudden numbness and weakness in the right extremities at the age of 2 years and was diagnosed with right hemiparesis. His parents were generally healthy and nonconsanguineous. His mother suffered from deep vein thrombosis of the left lower extremity during pregnancy and had recurrent fetal loss. At the age of 10 years, a thrombophilia marker examination revealed that plasma-free protein S was 49.3% (normal range = 70-123%), and factor VIII level was found to be 470 IU/dL (normal = 150 IU/dL). The patient and his two siblings were found to be heterozygous for factor V Leiden mutation. His mother was also heterozygous for factor V Leiden mutation and had protein S deficiency A combination of protein S deficiency, factor V Leiden mutation, and a high level of factor VIII was detected in our patient. After his first attack at the age of 2 years, in spite of no prophylaxis, he did not experience any other ischemic insult. To our knowledge, this is the first patient with these combinations of genetic defects and ischemic stroke to be reported in the literature. (J Child Neurol 2002;17:533-534).

Journal of Child Neurology, Vol. 17, No. 7, 533-534 (2002)
DOI: 10.1177/088307380201700711


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