Turner Sendromlu hastada serebral venöz tromboz

Year 2019, Volume: 12 Issue: 3, 557 - 560, 31.12.2019

Sadık Kaya Mehmet Alakaya Ali Korulmaz Ali Ertuğ Arslanköylü Kaan Esin Selma Ünal

https://doi.org/10.26559/mersinsbd.566658

Abstract

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.

Keywords

Turner sendromu, serebral venöz tromboz, glikoproteinIIIa

Cerebral venous thrombosis in a patient with Turner Syndrome

Abstract

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. 

Keywords

Turner syndrome, cerebral venous thrombosis, glycoproteinIIIa

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