Turner Sendromlu hastada serebral venöz tromboz

Turner syndrome is an anoploidy type that is characterized with the partial or complete absence of X chromosome. The disease is characterized by short and mane neck, low hairline, cubitus valgus, micrognathia, high arched palate, short stature, cardiac anomalies (aortic coarctation, ventricular septal defect), kidney anomalies (horseshoe kidney, urethral duplication, agenesis), multiple pigmental nevus. Cerebral venous thrombosis is an important cause of stroke in children. Here we report a 4.5 months old girl with Turner syndrome who was admitted to our intensive care unit because of sagittal sinus thrombosis. PAI 4G/5G 4G/4G homozygote and GPIIIaL33P heterozygote mutations were detected in the etiology. We suggest that PAI and GPIIIaL33P gene polymorphisms should be investigated in Turner syndrome patients with thrombosis.