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Aneurysms of the Aorta and Subclavian and Vertebral Arteries in Neurofibromatosis

Am J Dis Child. 1981;135(5):475-477. doi:10.1001/archpedi.1981.02130290071024.
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Neurofibromatosis is a generalized mesodermal and ectodermal dysplasia that primarily affects the skin, central and peripheral nervous systems, and skeleton.1,2 Arterial involvement is a less common manifestation.3-7 However, coarctation of the aorta,8,9 aneurysms,10-13 and stenosis of major vessels have been well documented.14-18 Reports of large-vessel aneurysms have been confined to renal,10,12 mesenteric,10 vertebral,13 and thyrocervical vessels.11 We studied a patient in whom vertebral angiography revealed a saccular aneurysm at 16 months of age. Repeated angiography at 7 years of age demonstrated aneurysmal dilation of the thoracic aorta and the left subclavian and the left vertebral arteries. The diagnosis of neurofibromatosis was first established with histological examination of the resected aortic aneurysm.

Report of a Case.—A girl was noted to have limited neck movement at 5 months of age associated with a midline hairy patch at the base of her neck.


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