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- Title
A bicarotid trunk with associated right retroesophageal subclavian artery in a child with neurofibromatosis type 1 complicated by a left hemispheric stroke.
- Authors
Guarnizo, Angela; Erripa, José I.; Rugilo, Carlos
- Abstract
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.
- Subjects
SUBCLAVIAN artery; STROKE; NEUROFIBROMATOSIS 1; THORACIC aorta; CAROTID artery; NOONAN syndrome
- Publication
Surgical & Radiologic Anatomy, 2023, Vol 45, Issue 12, p1599
- ISSN
0930-1038
- Publication type
Article
- DOI
10.1007/s00276-023-03253-1