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.