1 型神经纤维瘤病患儿合并左半球卒中，表现为双侧颈总动脉干伴右侧食管后锁骨下动脉，
A bicarotid trunk with associated right retroesophageal subclavian artery in a child with neurofibromatosis type 1 complicated by a left hemispheric stroke.
机构信息
Department of Radiology, Division of Neuroradiology, Hospital Universitario Fundación Santa Fe de Bogotá, Bogotá, Colombia.
Department of Radiology, Division of Neuroradiology, Hospital de Pediatría J. P. Garrahan, Buenos Aires, Argentina.
出版信息
Surg Radiol Anat. 2023 Dec;45(12):1599-1602. doi: 10.1007/s00276-023-03253-1. Epub 2023 Oct 25.
PURPOSE
To describe the association between two aortic arch branch variants and its possible relationship with neurofibromatosis-1.
METHODS
A 5-year-old female with NF-1 diagnosis presented to the emergency department at 2 months of age with irritability, vomiting and left gaze deviation. Brain MRI showed a left side acute hemispheric stroke and left internal carotid occlusion.
RESULTS
CT angiography of the neck showed the right and left common carotid arteries arising from a common vascular trunk coming from the aortic arch and a right retroesophageal subclavian artery.
CONCLUSION
Although the relationship between NF-1 mutation and aortic arch branch abnormalities has not been described, there is a recognized condition known as neurofibromatosis/Noonan syndrome which is an accepted variant of NF-1 with clinical features of both NF-1 and Noonan syndrome caused by dysregulation of the RAS-MAPK pathway. Aortic arch branch variations in patients with NF-1 could be explained by this association.
目的
描述两种主动脉弓分支变异之间的关联及其与 1 型神经纤维瘤病的可能关系。
方法
一名 5 岁女性，诊断为 NF-1，在 2 个月大时因烦躁、呕吐和左侧凝视偏差到急诊就诊。脑部 MRI 显示左侧急性半球性中风和左侧颈内动脉闭塞。
结果
颈部 CT 血管造影显示右侧和左侧颈总动脉从主动脉弓的共同血管干起源，还有一条右侧食管后锁骨下动脉。
结论
虽然 NF-1 突变与主动脉弓分支异常之间的关系尚未描述，但有一种已知的情况称为神经纤维瘤病/诺南综合征，这是 NF-1 的一种可接受的变异，其特征是 NF-1 和诺南综合征的临床特征均由 RAS-MAPK 通路的失调引起。NF-1 患者的主动脉弓分支变异可以用这种关联来解释。
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