Turner Sendromlu hastada serebral venöz tromboz

Öz

Turner sendromu X kromozomunun kismi veya tam yokluğu ile karakterize bir anoploidi tipidir.  Hastalık kısa ve yele boyun, düşük saç çizgisi, kubitus valgus, mikrognati, yüksek arklı damak, boy kısalığı, kardiyak anomaliler (aort koarktasyonu, ventriküler septal defekt), böbrek anomalileri (at nalı böbrek, üretral duplikasyon, agenezi), multipl pigmental nevüs ile karakterizedir. Serebral venöz tromboz çocuklarda inmenin önemli bir nedenidir. En sık görülen semptomlar baş ağrısı, nöbetler ve fokal nörolojik bozukluklardır. Hastalığın belirtileri arasında olmamasına karşın literatürde tromboz saptanan Turner sendromu olguları vardır. Bu yazıda sagittal sinüs ven trombozu nedeniyle yoğun bakım ünitemizde takip ettiğimiz ve etyolojisinde PAI 4G/5G 4G/4G homozigot ve GPIIIaL33P heterozigot mutasyonları saptadığımız Turner sendromlu bir olgu sunduk. Trombozu olan Turner sendromlu hastalarda trombotik faktörlerden PAI ve GPIIIaL33P gen polimorfizminin araştırılması gerektiğini düşünmekteyiz.

Anahtar Kelimeler

• Turner sendromu,serebral venöz tromboz,glikoproteinIIIa

Cerebral venous thrombosis in a patient with Turner Syndrome

Öz

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. 

Anahtar Kelimeler

• Turner syndrome,cerebral venous thrombosis,glycoproteinIIIa

Kaynakça

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