Congenital Arterial Thrombosis in Newborn: a Case Report

Abstract

Neonatal thrombosis is a serious event that can cause mortality or severe morbidity. Although catheters are the most common cause of neonatal thrombosis, spontaneous events can also occur. Arterial thrombosis is very rare and accounts for approximately half of all thrombotic events in neonates. Genetic prothrombotic risk factors may affect the occurence of neonatal thrombosis. In this report, a case of left brachial, radial, and ulnar arterial thrombosis associated with methylene-tetrahydrofolate reductase (MTHFR) gene C677T and A1298C polymorphism heterozygosity is presented. Plasma homocysteine level and other prothrombotic components were normal. Standard heparin, aspirin, vitamin B12, B6 and folic acid were initiated for treatment. However, the left arm of the patient was amputated at the shoulder because its capillary stream could not be observed. We suggest that MTHFR gene C677T and A1298C polymorphism heterozygosity might be investigated in neonates with congenital arterial thrombosis in spite of normal serum homocysteine levels.

Keywords

• Congenital arterial thrombosis,methylene-tetrahydrofolate reductase gene polymorphsim

Yenidoğanda Konjenital Arteriyel Tromboz: Olgu Sunumu

Öz

Yenidoğanda tromboz mortaliteye ve/veya ağır morbiditeye neden olabilen ciddi bir durumdur. Yenidoğan trombozunun en sık nedeni kateterler olmakla birlikte, spontan gelişen olgular da görülebilmektedir. Arteriyel tromboz çok nadir görülür ve yenidoğandaki trombotik olayların yaklaşık yarısını oluşturmaktadır. Genetik protrombotik risk faktörleri yenidoğanda tromboz oluşumunu etkilemektedir. Bu yazıda, metilen tetrahidrofolat redüktaz (MTHFR) geni C677T ve A1298C polimorfizmi heterozigotluğu ile ilişkilendirilen sol brakiyal, radiyal ve ulnar arter trombozu saptanan bir yenidoğan olgusu sunuldu. Plazma homosistein düzeyi ve diğer protombotik komponentleri normaldi. Standart heparin, aspirin, vitamin B12, B6 ve folik asit tedavileri başlanan olguda sol kol, kapiller dolaşımı alınamadığı için omuzdan ampute edildi. Plazma homosistein düzeyleri normal saptansa da konjenital arteriyel trombozlu yenidoğanlarda MTHFR geni C677T ve A1298C polimorfizmi araştırılmalıdır.

Anahtar Kelimeler

• Konjenital arteriyel tromboz, metilen tetrahidrofolat redüktaz gen polimorfizmi

Kaynakça

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