Broxterman K J, Mathew P, Chicoine L
Department of Pediatrics, University of New Mexico, Albuquerque 87131-5311, USA.
J Pediatr Hematol Oncol. 2000 Sep-Oct;22(5):472-5. doi: 10.1097/00043426-200009000-00019.
Factor V Leiden mutation is reportedly the most common hereditary risk factor for thrombosis. Spontaneous venous thromboses in children with factor V Leiden are rare without the presence of an additional risk factor for thrombosis. Spontaneous arterial thromboses are even more rare. In this case report, we describe an unusual case of a neonate born with both arterial and venous thromboses involving the left brachial artery, the left brachial vein, and stroke involving the right middle cerebral artery. The infant was subsequently found to be heterozygous for the factor V Leiden mutation. His mother was also heterozygous for the mutation but did not have a history of thrombosis. Evaluation for the factor V Leiden mutation should form part of the work-up of an infant with either arterial or venous thromboses or stroke because it increases the infant's relative risk for future thrombosis.
据报道，凝血因子V莱顿突变是最常见的遗传性血栓形成危险因素。在没有其他血栓形成危险因素的情况下，患有凝血因子V莱顿突变的儿童发生自发性静脉血栓很少见。自发性动脉血栓则更为罕见。在本病例报告中，我们描述了一例不寻常的新生儿病例，该新生儿同时发生了涉及左肱动脉、左肱静脉的动脉和静脉血栓形成，以及涉及右大脑中动脉的中风。随后发现该婴儿为凝血因子V莱顿突变杂合子。他的母亲也是该突变的杂合子，但没有血栓形成病史。对凝血因子V莱顿突变的评估应作为患有动脉或静脉血栓形成或中风的婴儿检查的一部分，因为它会增加婴儿未来发生血栓形成的相对风险。
