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1型神经纤维瘤病相关的颈髓内动静脉瘘

Arteriovenous Fistula Inside Cervical Spinal Canal Associated with Neurofibromatosis Type 1.

作者信息

Su Xin-Jin, Li Quan, Shen Hong-Xing

机构信息

Department of Spine Surgery, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Department of Spine Surgery, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

出版信息

World Neurosurg. 2019 Mar;123:283-285. doi: 10.1016/j.wneu.2018.12.045. Epub 2018 Dec 21.

DOI:10.1016/j.wneu.2018.12.045
PMID:30580065
Abstract

BACKGROUND

Neurofibromatosis type 1 (NF-1) is an autosomal dominant disease caused by mutation on chromosome 17, which affects the skin, vascular system, nervous system, and skeleton system. Arteriovenous fistula (AVF) is one of the recognized complications of NF-1.

CASE DESCRIPTION

We report a case of a 33-year-old woman with NF-1 with cervical spine AVF inside the cervical spinal canal who presented with progressive spinal cord compression which was abnormal. After sufficient preparation, the patient underwent vascular embolization, and then symptoms of spinal cord compression significantly improved.

CONCLUSIONS

This report reminds readers of the possibility of AVF if there is a space-occupying lesion inside the cervical spinal canal and to do computed tomography angiography examination when necessary.

摘要

背景

1型神经纤维瘤病(NF-1)是一种由17号染色体突变引起的常染色体显性疾病,会影响皮肤、血管系统、神经系统和骨骼系统。动静脉瘘(AVF)是NF-1公认的并发症之一。

病例描述

我们报告一例33岁患有NF-1的女性,其颈椎管内存在颈椎动静脉瘘,表现为进行性脊髓受压异常。经过充分准备后,患者接受了血管栓塞治疗,随后脊髓受压症状明显改善。

结论

本报告提醒读者,如果颈椎管内存在占位性病变,要考虑AVF的可能性,并在必要时进行计算机断层血管造影检查。

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1
Arteriovenous Fistula Inside Cervical Spinal Canal Associated with Neurofibromatosis Type 1.1型神经纤维瘤病相关的颈髓内动静脉瘘
World Neurosurg. 2019 Mar;123:283-285. doi: 10.1016/j.wneu.2018.12.045. Epub 2018 Dec 21.
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[Symptomatic arteriovenous fistula in a patient with neurofibromatosis type I].[1型神经纤维瘤病患者的症状性动静脉瘘]
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Medicine (Baltimore). 2022 Oct 7;101(40):e30952. doi: 10.1097/MD.0000000000030952.

引用本文的文献

1
Case Report: Multi-Orifices Vertebral Arteriovenous Fistula With Severe Scoliosis in Neurofibromatosis Type 1: Might Be a Congenital Disease With Mesodermal Dysplasia.病例报告:1型神经纤维瘤病合并严重脊柱侧弯的多孔椎动静脉瘘:可能是一种伴有中胚层发育异常的先天性疾病。
Front Neurol. 2021 Mar 17;12:578797. doi: 10.3389/fneur.2021.578797. eCollection 2021.
2
Neurofibromatosis type 1 with subarachnoid haemorrhage from the left vertebral arteriovenous fistula: case presentation and literature review.神经纤维瘤病 1 型伴左侧椎动静脉瘘蛛网膜下腔出血:病例报告及文献复习。
BMJ Case Rep. 2021 Feb 22;14(2):e239880. doi: 10.1136/bcr-2020-239880.