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

References

• 1. Sybert, V.P. and E. McCauley, Turner's syndrome. N Engl J Med, 2004. 351(12): p. 1227-38.
• 2. Santos, V., et al., [Turner syndrome. From child to adult... A multidisciplinary approach]. Acta Med Port, 2010. 23(5): p. 873-82.
• 3. Trovo de Marqui, A.B., [Turner syndrome and genetic polymorphism: a systematic review]. Rev Paul Pediatr, 2015. 33(3): p. 364-71.
• 4. Baxi, L.V. and C.A. Walsh, Cerebral venous sinus thrombosis, Dandy-Walker malformation and polymicrogyria in Turner syndrome: an unreported association. Prenat Diagn, 2009. 29(9): p. 899-900.
• 5. Guler, A., et al., Cerebral Venous Thrombosis and Turner Syndrome: A Rare Reported Association. Genet Couns, 2015. 26(3): p. 307-11.
• 6. Kopacek Zilz, C., J. Keller Brenner, and R.H. Elnecave, Portal vein thrombosis and high factor VIII in Turner syndrome. Horm Res, 2006. 66(2): p. 89-93.
• 7. Ritchey, Z., et al., Pediatric Cortical Vein Thrombosis: Frequency and Association With Venous Infarction. Stroke, 2016. 47(3): p. 866-8.
• 8. Grunt, S., et al., Cerebral sinus venous thrombosis in Swiss children. Dev Med Child Neurol, 2010. 52(12): p. 1145-50.
• 9. Otrock, Z.K., et al., Thrombophilic risk factors among 16 Lebanese patients with cerebral venous and sinus thrombosis. J Thromb Thrombolysis, 2008. 26(1): p. 41-3.
• 10. Ozcan, A., et al., Cerebral Sinus Venous Thrombosis and Prothrombotic Risk Factors in Children: A Single-Center Experience From Turkey. J Pediatr Hematol Oncol, 2018. 40(6): p. e369-e372.
• 11. Stegnar, M., et al., The 4G/5G sequence polymorphism in the promoter of plasminogen activator inhibitor-1 (PAI-1) gene: relationship to plasma PAI-1 level in venous thromboembolism. Thromb Haemost, 1998. 79(5): p. 975-9.
• 12. Eriksson, P., et al., Allele-specific increase in basal transcription of the plasminogen-activator inhibitor 1 gene is associated with myocardial infarction. Proc Natl Acad Sci U S A, 1995. 92(6): p. 1851-5.
• 13. Tassies, D., et al., The 4G/5G polymorphism of the type 1 plasminogen activator inhibitor gene and thrombosis in patients with antiphospholipid syndrome. Arthritis Rheum, 2000. 43(10): p. 2349-58.
• 14. Slowik, A., et al., A2 alelle of GpIIIa gene is a risk factor for stroke caused by large-vessel disease in males. Stroke, 2004. 35(7): p. 1589-93.
• 15. Calcaterra, V., et al., Thrombophilic screening in Turner syndrome. J Endocrinol Invest, 2011. 34(9): p. 676-9.