Surgical and radiologic anatomy : SRA · 2023
A bicarotid trunk with associated right retroesophageal subclavian artery in a child with neurofibromatosis type 1 complicated by a left hemispheric stroke.
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Guarnizo Angela, Erripa José I, Rugilo Carlos
Аннотация
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.
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.