{"title":"蛋白C缺乏和凝血酶原基因突变共存导致新生儿血栓形成","authors":"K. Acharyya, S. Acharyya","doi":"10.15761/ccsr.1000121","DOIUrl":null,"url":null,"abstract":"There was no structural abnormality in echocardiography. But Cardiac catheterization revealed the presence of distal aortic obstruction by a large intraluminal thrombus. An attempt to dissolve the thrombus with urokinase infusion was unsuccessful. The affected vessels were then surgically explored and a large thrombus from the distal abdominal aorta was removed. Following this the child recovered uneventfully with return of lower limb pulsation. A thrombotic profile revealed the underlying diagnosis of congenital Protein C deficiency and a simultaneous thrombophilic prothrombin gene mutation. This is an extremely unusual presentation of neonatal thrombosis treated by successful vascular surgical procedure.","PeriodicalId":10345,"journal":{"name":"Clinical Case Studies and Reports","volume":"1 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Coexistence of protein C deficiency and prothrombin gene mutation causing neonatal thrombosis\",\"authors\":\"K. Acharyya, S. Acharyya\",\"doi\":\"10.15761/ccsr.1000121\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"There was no structural abnormality in echocardiography. But Cardiac catheterization revealed the presence of distal aortic obstruction by a large intraluminal thrombus. An attempt to dissolve the thrombus with urokinase infusion was unsuccessful. The affected vessels were then surgically explored and a large thrombus from the distal abdominal aorta was removed. Following this the child recovered uneventfully with return of lower limb pulsation. A thrombotic profile revealed the underlying diagnosis of congenital Protein C deficiency and a simultaneous thrombophilic prothrombin gene mutation. This is an extremely unusual presentation of neonatal thrombosis treated by successful vascular surgical procedure.\",\"PeriodicalId\":10345,\"journal\":{\"name\":\"Clinical Case Studies and Reports\",\"volume\":\"1 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Case Studies and Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15761/ccsr.1000121\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Case Studies and Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15761/ccsr.1000121","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Coexistence of protein C deficiency and prothrombin gene mutation causing neonatal thrombosis
There was no structural abnormality in echocardiography. But Cardiac catheterization revealed the presence of distal aortic obstruction by a large intraluminal thrombus. An attempt to dissolve the thrombus with urokinase infusion was unsuccessful. The affected vessels were then surgically explored and a large thrombus from the distal abdominal aorta was removed. Following this the child recovered uneventfully with return of lower limb pulsation. A thrombotic profile revealed the underlying diagnosis of congenital Protein C deficiency and a simultaneous thrombophilic prothrombin gene mutation. This is an extremely unusual presentation of neonatal thrombosis treated by successful vascular surgical procedure.