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伴有纤维肌发育不良的自发性颈内动脉海绵窦瘘:病例说明

Spontaneous carotid-cavernous sinus fistula with fibromuscular dysplasia: illustrative case.

作者信息

Tan Wen, Jiang Lu, Yu Kuangyang, Pan Yuyang, Yang Yubin, Pang Jinwei, Bao Kunyang, Huang Changren, Peng Jianhua, Jiang Yong

机构信息

Department of Neurosurgery, the Affiliated Hospital of Southwest Medical University, Luzhou, China.

Laboratory of Neurological Diseases and Brain Function, the Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China.

出版信息

J Neurosurg Case Lessons. 2025 Mar 31;9(13). doi: 10.3171/CASE24622.

DOI:10.3171/CASE24622
PMID:40164002
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11959639/
Abstract

BACKGROUND

A carotid artery cavernous sinus fistula (CCF) is an abnormal shunt of blood vessels, allowing blood to flow directly or indirectly from the carotid artery into the cavernous sinus. The most common cause of spontaneous CCF (s-CCF) is ruptured internal carotid-cavernous sinus aneurysms, while fibromuscular dysplasia (FMD) is rare. FMD is a rare, idiopathic, segmental, noninflammatory, and nonatherosclerotic disease of medium-sized arteries, characterized by abnormal cell proliferation and distortion of arterial wall architecture. The authors report the case of a patient with CCF with FMD.

OBSERVATIONS

The authors report the case of a young woman with s-CCF who was effectively treated with coiling and balloon compression. Subsequently, she was shown to have FMD susceptibility genes using single nucleotide polymorphism (SNP) testing in the follow-up phase.

LESSONS

The authors report the case of s-CCF caused by FMD in a young patient. SNP testing validated the existence of FMD susceptibility genes. The patient successfully recuperated following endovascular embolization therapy. For patients with s-CCF, the possibility of FMD should be considered, especially in young women with a family history. https://thejns.org/doi/10.3171/CASE24622.

摘要

背景

颈动脉海绵窦瘘(CCF)是一种异常的血管分流,使血液直接或间接从颈动脉流入海绵窦。自发性CCF(s-CCF)最常见的原因是颈内动脉海绵窦段动脉瘤破裂,而纤维肌发育不良(FMD)则较为罕见。FMD是一种罕见的、特发性的、节段性的、非炎症性的、非动脉粥样硬化性的中动脉疾病,其特征是细胞异常增殖和动脉壁结构扭曲。作者报告了一例患有CCF合并FMD的患者。

观察结果

作者报告了一例患有s-CCF的年轻女性患者,通过弹簧圈栓塞和球囊压迫得到有效治疗。随后,在随访阶段通过单核苷酸多态性(SNP)检测显示她具有FMD易感基因。

经验教训

作者报告了一例年轻患者中由FMD引起的s-CCF病例。SNP检测证实了FMD易感基因的存在。该患者在血管内栓塞治疗后成功康复。对于s-CCF患者,应考虑FMD的可能性,尤其是有家族史的年轻女性。https://thejns.org/doi/10.3171/CASE24622。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b943/11959639/98b7260f21ef/CASE24622_figure_3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b943/11959639/0f59beb40cf3/CASE24622_figure_1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b943/11959639/9645e250f3c8/CASE24622_figure_2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b943/11959639/98b7260f21ef/CASE24622_figure_3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b943/11959639/0f59beb40cf3/CASE24622_figure_1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b943/11959639/9645e250f3c8/CASE24622_figure_2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b943/11959639/98b7260f21ef/CASE24622_figure_3.jpg

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本文引用的文献

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A Retrospective Cohort Study of Cerebrovascular Fibromuscular Dysplasia.一项关于脑血管纤维肌性发育异常的回顾性队列研究。
Ann Vasc Surg. 2023 May;92:104-110. doi: 10.1016/j.avsg.2022.12.092. Epub 2023 Jan 13.
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Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.纤维肌性发育异常的遗传学研究确定了风险位点以及与常见心血管疾病共有的遗传学特征。
Nat Commun. 2021 Oct 15;12(1):6031. doi: 10.1038/s41467-021-26174-2.
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A Novel Recurrent Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.
一种新型的复发性遗传变异与表现为夹层和纤维肌性发育不良的动脉疾病相关。
Arterioscler Thromb Vasc Biol. 2020 Nov;40(11):2686-2699. doi: 10.1161/ATVBAHA.119.313885. Epub 2020 Sep 17.
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First International Consensus on the diagnosis and management of fibromuscular dysplasia.第一届国际纤维肌发育不良诊断与管理共识会议。
Vasc Med. 2019 Apr;24(2):164-189. doi: 10.1177/1358863X18821816. Epub 2019 Jan 16.
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Fibromuscular Dysplasia and Its Neurologic Manifestations: A Systematic Review.纤维肌性发育不良及其神经表现:系统评价。
JAMA Neurol. 2019 Feb 1;76(2):217-226. doi: 10.1001/jamaneurol.2018.2848.
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Intranuclear expression of progesterone receptors in smooth muscle cells of renovascular fibromuscular dysplasia: a pilot study.肾血管性纤维肌性发育异常平滑肌细胞中孕激素受体的核内表达:一项初步研究。
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Association of smoking with phenotype at diagnosis and vascular interventions in patients with renal artery fibromuscular dysplasia.吸烟与肾动脉纤维肌性发育不良患者诊断时表型及血管介入治疗的相关性。
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Carotid-cavernous fistulas.颈动脉海绵窦瘘。
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