PDF(Pubmed)
Abstract：
BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: 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.
METHODS: 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.
CONCLUSIONS: 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.
摘要：
背景：脑静脉窦血栓形成（CVST）通常与血液的血栓前状态有关，其致病因素差异很大。先前的研究尚未报道CVST和硬脑膜动静脉瘘（DAVFs）的同时发生可能是由于基因突变。在这个案例报告中,我们介绍了一个独特的事件,其中低密度脂蛋白受体(LDLR)基因杂合突变的患者出现CVST和DAVFs.
方法：介绍：一名男性患者，51岁，由于认知功能持续下降并伴有复发性头痛，在我们的设施寻求治疗。进行了综合评价，包括神经系统检查,实验室测试,磁共振成像，数字减影血管造影,和整个外显子组测序。数字减影血管造影术发现患者右乙状窦内的DAVFs和左横窦内的闭塞。血液样品的整个外显子组测序确定了LDLR基因中的杂合突变（NM_000527：exon12：c。C1747T:p.H583Y)。在确诊CVST和DAVFs后，患者接受了抗凝治疗联合血管内手术,包括右乙状窦动静脉瘘栓塞和左横窦球囊扩张支架置入.6个月的随访表明患者症状明显减轻。
结论：该报告标志着首例LDLR基因突变的病例，该突变可能与CVST和DAVFs的发病有关。LDLR基因的突变可能会促进血栓形成环境，促进CVST的逐渐出现和随后的DAVF的发生。
方法：介绍：一名男性患者，51岁，由于认知功能持续下降并伴有复发性头痛，在我们的设施寻求治疗。进行了综合评价，包括神经系统检查,实验室测试,磁共振成像，数字减影血管造影,和整个外显子组测序。数字减影血管造影术发现患者右乙状窦内的DAVFs和左横窦内的闭塞。血液样品的整个外显子组测序确定了LDLR基因中的杂合突变（NM_000527：exon12：c。C1747T:p.H583Y)。在确诊CVST和DAVFs后，患者接受了抗凝治疗联合血管内手术,包括右乙状窦动静脉瘘栓塞和左横窦球囊扩张支架置入.6个月的随访表明患者症状明显减轻。
结论：该报告标志着首例LDLR基因突变的病例，该突变可能与CVST和DAVFs的发病有关。LDLR基因的突变可能会促进血栓形成环境，促进CVST的逐渐出现和随后的DAVF的发生。
