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1型神经纤维瘤病患者的自发性外周动脉破裂

Spontaneous peripheral artery rupture in patients with neurofibromatosis type 1.

作者信息

Che Luyang, Ge Yangyang, Xu Yongle, Liu Xiaoping, Luan Shaoliang, Guo Wei

机构信息

Department of Vascular and Endovascular Surgery, Chinese PLA General Hospital, Beijing, China.

Department of Vascular and Endovascular Surgery, Hainan Hospital of Chinese PLA General Hospital, Sanya City, Hainan Province, China.

出版信息

J Vasc Surg Cases Innov Tech. 2025 Jun 6;11(5):101873. doi: 10.1016/j.jvscit.2025.101873. eCollection 2025 Oct.

DOI:10.1016/j.jvscit.2025.101873
PMID:40697342
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12281292/
Abstract

Artery rupture is a very rare but severe complication of neurofibromatosis type 1 (NF1), an autosomal-dominant genetic disorder, and the optimal treatment is not yet clear. We present two cases who presented with different types of artery rupture related to NF1 at our center within a short period and review similar cases reported previously to discuss the suitable therapy for this complication. We concluded that an NF1 gene mutation affects the structure of the artery, makes the artery fragile, thick, and prone to rupture, and endovascular treatment should be considered as the first choice.

摘要

动脉破裂是1型神经纤维瘤病（NF1）极为罕见但严重的并发症，NF1是一种常染色体显性遗传病，目前最佳治疗方案尚不明确。我们报告了两例在我院短期内出现与NF1相关的不同类型动脉破裂的病例，并回顾了既往报道的类似病例，以探讨针对该并发症的合适治疗方法。我们得出结论，NF1基因突变影响动脉结构，使动脉变得脆弱、增厚且易于破裂，血管内治疗应被视为首选。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62bf/12281292/3041e83996d2/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62bf/12281292/35df8ecae8f7/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62bf/12281292/4e1b04e1a923/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62bf/12281292/26e685fa9db8/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62bf/12281292/3c989fae0fb0/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62bf/12281292/2170e0d4d0a5/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62bf/12281292/3041e83996d2/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62bf/12281292/35df8ecae8f7/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62bf/12281292/4e1b04e1a923/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62bf/12281292/26e685fa9db8/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62bf/12281292/3c989fae0fb0/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62bf/12281292/2170e0d4d0a5/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62bf/12281292/3041e83996d2/gr6.jpg

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A life-threatening, massive subcutaneous hematoma caused by trauma in a patient with neurofibromatosis type 1: a case report and literature review.1型神经纤维瘤病患者因外伤导致危及生命的巨大皮下血肿：病例报告及文献综述
Front Oncol. 2024 May 31;14:1387966. doi: 10.3389/fonc.2024.1387966. eCollection 2024.
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Intracranial Vessel Wall Magnetic Resonance Imaging of Middle Cerebral Artery Dissection in Neurofibromatosis Type 1.1型神经纤维瘤病中大脑中动脉夹层的颅内血管壁磁共振成像
Stroke. 2023 Sep;54(9):e419-e420. doi: 10.1161/STROKEAHA.123.042886. Epub 2023 Jul 27.
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Vertebral arteriovenous fistulae (AVF) and vertebral artery aneurysms in neurofibromatosis type 1: A case report and a systematic review.
神经纤维瘤病 1 型中的脊柱动静脉瘘（AVF）和椎动脉动脉瘤：病例报告和系统评价。
Medicine (Baltimore). 2022 Oct 7;101(40):e30952. doi: 10.1097/MD.0000000000030952.
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Ischemic stroke with extensive vasculopathy in a patient with neurofibromatosis type 1.1型神经纤维瘤病患者出现伴有广泛血管病变的缺血性卒中。
Radiol Case Rep. 2022 Jul 16;17(9):3370-3372. doi: 10.1016/j.radcr.2022.05.029. eCollection 2022 Sep.
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