Med Bull Sisli Etfal Hosp. 2009; 43(3): 131-133

Cerebral venous thrombosis in a patient with heterozygous methylenetetrahydrofolate reductase (C677T) polymorphism

Sinan Mahir Kayýran¹, Bülent Zülfikar^2
1Department of Pediatrics, American Hospital, Istanbul, Turkey
²Ýstanbul University, Cerrahpaþa Faculty of Medicine, Istanbul, Turkey

Venous thromboembolism is decribed as a multifactorial disorder including both congenital and acquired risk factors and generally detected in elder patients. Although cerebral venous thrombosis (CVT) is associated with substantial mortality and morbidity, its causes in children have not been intensively investigated, mainly because it occurs at a low frequency (0.67 per 100000 children). But the reports of thrombotic events in children are increasing. Methylenetetrahydrofolatereductase (MTHFR) C677 T polymorphism has been detected as an important role in inherited thrombophilia in recent years. In this article we report a child with cerebral venous thrombosis and heterozygous methylenetetrahydrofolatereductase (MTHFR) C677 T polymorphism after otomastoiditis.

Keywords: Cerebral venous thrombosis MTHFR (C677T) Polymorphism Otomastoiditis Child Patient

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Heterozigot metilentetrahidrofolat reduktaz (C677T) polimorfizmini taþýyan bir hastada geliþen serebral venöz trombus

Sinan Mahir Kayýran¹, Bülent Zülfikar^2
1Amerikan Hastanesi, Pediatri Bölümü, Ýstanbul
²Ýstanbul Üniversitesi, Cerrahpaþa Týp Fakültesi, Ýstanbul

Venöz tromboembolizm kalýtsal ve edinsel risk faktörlerinin etkileþimi sonucu ortaya çýkan ve genellikle eriþkinlerde görülen multifaktöryel bir patolojidir. Serebral venöz trombus, önemli morbidite ve mortalite nedeni olmasýna raðmen, çocuklarda sýklýðýnýn az olmasi nedeniyle (100000de 0.67) detaylý incelenmemiþtir. Ancak cocuklarda da trombotik olaylarla ilgili raporlarýn giderek artýs gösterdiði izlenmektedir. Methylentetrahidrofolat reduktaz (MTHFR) geninde C-T (C677T) degiþimi son yýllarda genetik trombofilinin etiyolojisinde önemli bir rol oynamaktadýr. Bu makalede otomastoidit sonrasý serebral venöz trombus geliþen ve metilentetrahidrofolatredüktaz (MTHFR) geninde C677T polimorfizmini heterozigot olarak taþýyan bir çocuk hasta bildirilmiþtir.

Anahtar Kelimeler: Serebral venöz trombus MTHFR (C677T) Polimorfizm Otomastoidit Çocuk Hasta

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