Hu Hui, Chen Hao, Li Lusheng, Zhai Xuan, Liang Ping, Tang Jun
Department of Neurosurgery, Children's Hospital of Chongqing Medical University, Chongqing, China.
National Research Center for Child Health and Disorders, Chongqing, China.
J Neurosurg Case Lessons. 2024 Aug 26;8(9). doi: 10.3171/CASE24182.
Intracranial pial arteriovenous fistulas (PAVFs) are uncommon neurovascular anomalies that primarily affect the pediatric population. PAVFs are often linked to hereditary hemorrhagic telangiectasia, yet the specific genetic mutations remain unidentified. While endovascular embolization is the preferred treatment for PAVFs, complications like hydrocephalus and sinus thrombosis pose challenges in management.
The authors present a rare case of PAVF in a 6-month-old male neonate with a hereditary GDF2 mutation, where the fistula was supplied by the posterior inferior cerebellar artery and drained directly into the sigmoid sinus. The PAVF was effectively treated with endovascular embolization using coils and Onyx. Furthermore, the authors describe the successful use of rivaroxaban in managing subsequent sinus thrombosis after the embolization of PAVFs. Additionally, the authors review treatment strategies and complications following fistula disconnection.
Endovascular embolization is the primary treatment choice for the majority of pediatric PAVFs, while a hereditary GDF2 mutation is considered a potential contributing factor to the formation of these malformations in children. Rivaroxaban has shown promise as an effective therapeutic option for pediatric sinus thrombosis, supported by its established safety profile. https://thejns.org/doi/10.3171/CASE24182.
颅内软膜动静脉瘘（PAVF）是一种罕见的神经血管异常，主要影响儿童群体。PAVF常与遗传性出血性毛细血管扩张症相关，但具体的基因突变仍未明确。虽然血管内栓塞是PAVF的首选治疗方法，但脑积水和窦血栓形成等并发症给治疗带来了挑战。
作者报告了一例罕见的6个月大男性新生儿PAVF病例，该患儿存在遗传性GDF2突变，瘘由小脑后下动脉供血并直接引流至乙状窦。使用弹簧圈和Onyx进行血管内栓塞有效地治疗了该PAVF。此外，作者描述了利伐沙班在PAVF栓塞后成功用于治疗随后发生的窦血栓形成。此外，作者回顾了瘘切断后的治疗策略和并发症。
血管内栓塞是大多数儿童PAVF的主要治疗选择，而遗传性GDF2突变被认为是儿童这些畸形形成的潜在促成因素。利伐沙班已显示出作为儿童窦血栓形成有效治疗选择的前景，其已确立的安全性概况支持这一点。https://thejns.org/doi/10.3171/CASE24182 。
