Department of Neurology, Hunan Provincial People's Hospital, No. 61 Jiefang West Road, Furong District, Changsha, Hunan Province, 410005, China.
Department of Neurosurgery, Fudan University Affiliated Huashan Hospital, No. 12 Wulumuqi Road, Shanghai, 200040, China.
BMC Neurol. 2023 Nov 28;23(1):423. doi: 10.1186/s12883-023-03455-5.
Cerebral venous sinus thrombosis (CVST) is typically associated with a prothrombotic state of the blood, with its causative factors varying widely. Prior research has not reported the simultaneous occurrence of CVST and dural arteriovenous fistulas (DAVFs) as potentially resulting from genetic mutations. In this case report, we introduce a unique occurrence wherein a patient with a heterozygous mutation of the low-density lipoprotein receptor (LDLR) gene presented with CVST in conjunction with DAVFs.
Presentation: A male patient, aged 51, sought treatment at our facility due to a consistent decline in cognitive functions accompanied by recurrent headaches. Comprehensive evaluations were administered, including neurological examinations, laboratory tests, magnetic resonance imaging, digital subtraction angiography, and whole exome sequencing. Digital subtraction angiography identified DAVFs in the patient's right sigmoid sinus and an occlusion within the left transverse sinus. The whole exome sequencing of blood samples pinpointed a heterozygous mutation in the LDLR gene (NM_000527:exon12:c.C1747T:p.H583Y). Following the confirmed diagnosis of CVST and DAVFs, the patient underwent anticoagulant therapy combined with endovascular procedures - these comprised embolization of the arteriovenous fistula in the right sigmoid sinus and balloon dilation with stent implantation in the left transverse sinus. A six-month follow-up indicated a significant abatement in the patient's symptoms.
This report marks the first documented case of an LDLR gene mutation that could be associated with the onset of CVST and DAVFs. The mutation in the LDLR gene might foster a prothrombotic environment, facilitating the gradual emergence of CVST and the subsequent genesis of DAVFs.
脑静脉窦血栓形成（CVST）通常与血液的高凝状态有关，其病因多种多样。先前的研究并未报道 CVST 和硬脑膜动静脉瘘（DAVFs）同时发生可能是由于基因突变所致。在本病例报告中，我们介绍了一个独特的病例，一名 LDLR 基因杂合突变的患者同时出现 CVST 和 DAVFs。
表现：一名 51 岁男性患者因认知功能持续下降伴反复头痛到我院就诊。进行了全面评估，包括神经系统检查、实验室检查、磁共振成像、数字减影血管造影和全外显子组测序。数字减影血管造影发现患者右侧乙状窦和左侧横窦内有 DAVFs。血液样本的全外显子组测序发现 LDLR 基因（NM_000527：exon12：c.C1747T：p.H583Y）存在杂合突变。在确诊 CVST 和 DAVFs 后，患者接受了抗凝治疗联合血管内治疗——包括右侧乙状窦动静脉瘘栓塞和左侧横窦球囊扩张加支架植入。6 个月的随访表明患者的症状明显减轻。
本报告首次记录了 LDLR 基因突变可能与 CVST 和 DAVFs 发病相关的病例。LDLR 基因突变可能导致促凝环境，促使 CVST 逐渐出现，并随后发生 DAVFs。
