Department of Pediatrics, Army Hospital Research and Referral, New Delhi, India
Department of Pediatrics, Army Hospital Research and Referral, New Delhi, India.
BMJ Case Rep. 2021 Jan 18;14(1):e237340. doi: 10.1136/bcr-2020-237340.
Neonates are at highest risk of thrombosis among paediatric patients. The relative prothrombotic state in a well neonate is compensated by other factors preventing spontaneous thrombosis; however, in a neonate with genetic predisposition, the balance is tilted predisposing them to a life-threatening thrombotic episode. We describe a rare case of methylenetetrahydrofolate reductase A1298C (homozygous) mutation along with plasminogen activator inhibitor (4G) mutation in a neonate who developed bilateral lower limb gangrene following thrombosis of the iliac vessels without any triggering factor. The neonate underwent thrombectomy as debulking measure along with thrombolytic therapy followed by unfractionated heparin and low-molecular-weight heparin which is still being continued along with oral aspirin. The neonate had to undergo amputation of both the involved lower limbs in view of dry gangrene. This case highlights that the dual mutations causing the prothrombotic state predispose the individual to the spontaneous life-threatening thrombotic episode as compared with the single mutation.
新生儿是儿科患者中最容易发生血栓的人群。健康新生儿的相对高凝状态会被其他因素所代偿，从而防止自发性血栓形成；然而，对于存在遗传易感性的新生儿，这种平衡会被打破，使他们容易发生危及生命的血栓事件。我们描述了一例罕见的病例，一名新生儿同时存在亚甲基四氢叶酸还原酶 A1298C（纯合子）突变和纤溶酶原激活物抑制剂（4G）突变，在没有任何触发因素的情况下，髂血管血栓形成后导致双侧下肢坏疽。新生儿接受了血栓切除术作为减容措施，同时进行溶栓治疗，随后使用普通肝素和低分子肝素，目前仍在继续使用，同时口服阿司匹林。由于干性坏疽，该新生儿不得不对受累的两条下肢进行截肢。该病例强调，与单一突变相比，双重突变导致的高凝状态使个体更容易发生自发性危及生命的血栓事件。
