Toader Corneliu, Brehar Felix-Mircea, Radoi Mugurel Petrinel, Serban Matei, Covache-Busuioc Razvan-Adrian, Glavan Luca-Andrei, Ciurea Alexandru Vlad, Dobrin Nicolaie
Department of Neurosurgery, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Department of Vascular Neurosurgery, National Institute of Neurology and Neurovascular Diseases, 077160 Bucharest, Romania.
Diagnostics (Basel). 2024 Nov 21;14(23):2613. doi: 10.3390/diagnostics14232613.
Arteriovenous malformations (AVMs) are complex vascular anomalies that can present with significant complications, including intracranial hemorrhage. This report presents the case of a 36-year-old female with Prothrombin G20210A mutation-associated thrombophilia, highlighting its potential impact on AVM pathophysiology and management. The patient presented with a right paramedian intraparenchymal frontal hematoma, left hemiparesis, and seizures. Cerebral angiography identified a ruptured right parasagittal frontal AVM classified as Spetzler-Martin Grade II. A right interhemispheric frontal craniotomy was performed, enabling microsurgical resection of the AVM. Intraoperative findings included evacuation of a subcortical hematoma and excision of a 20 mm AVM nidus with arterial feeders from the A4 segment of the anterior cerebral artery and a single venous drainage into the superior sagittal sinus. Postoperative recovery was favorable, with significant neurological improvement. The patient demonstrated resolution of hemiparesis and a marked reduction in seizure activity. The hypercoagulable state associated with Prothrombin G20210A mutation was identified as a contributing factor in the thrombosis of the AVM's draining vein, potentially leading to increased venous pressure, rupture, and hemorrhage. This case underscores the importance of recognizing thrombophilia in patients with AVMs for optimal surgical planning and complication management. Despite the challenges posed by the hypercoagulable condition, microsurgical resection proved to be a viable and effective treatment option. Further research is warranted to elucidate the relationship between thrombophilic disorders and AVMs to enhance patient management strategies and outcomes.
动静脉畸形（AVM）是复杂的血管异常，可出现包括颅内出血在内的严重并发症。本报告介绍了一名36岁患有凝血酶原G20210A突变相关易栓症的女性病例，强调了其对AVM病理生理学和治疗的潜在影响。患者表现为右侧额叶脑实质内旁正中血肿、左侧偏瘫和癫痫发作。脑血管造影显示右侧矢状窦旁额叶AVM破裂，分类为Spetzler-Martin Ⅱ级。实施了右侧额部经纵裂入路开颅手术，得以显微手术切除AVM。术中发现包括清除皮质下血肿以及切除一个20毫米的AVM病灶，其动脉供血来自大脑前动脉A4段，单一静脉引流至矢状窦。术后恢复良好，神经功能有显著改善。患者偏瘫症状消失，癫痫发作活动明显减少。与凝血酶原G20210A突变相关的高凝状态被确定为AVM引流静脉血栓形成的一个促成因素，可能导致静脉压力升高、破裂和出血。该病例强调了在AVM患者中识别易栓症对于优化手术规划和并发症管理的重要性。尽管高凝状态带来了挑战，但显微手术切除被证明是一种可行且有效的治疗选择。有必要进一步研究以阐明易栓症与AVM之间的关系，从而加强患者管理策略和改善治疗结果。
