Vasculopathy in Neurofibromatosis Type 1

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A 42-year-old man with a past medical history of neurofibromatosis type 1 (NF-1) was referred for follow-up CT angiography for prior vasculopathies. The disease initially manifested with hypertension (right renal artery stenosis), scoliosis, multiple craniofacial anomalies, multiple congenital epidermal nevi, and neurofibromas with spinal cord compression. Several vascular interventions were performed to place a stent in the stenotic arterial segments or exclude the aneurysms. CT angiogram showed a tortuous, small-caliber thoracoabdominal aorta, multifocal ectasia, and saccular aneurysms (Figure, Movie 1 [online]). Multiple sof-tissue masses along the spine and surrounding the upper abdominal vessels represent neurofibromas (Movie 2 [online]).

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Vasculopathy is an important manifestation of NF-1 as the cause of morbidity and mortality in children and young adults afflicted with the disease. Occlusive or aneurysmal disease of arteries of all sizes may occur almost anywhere in the body. Segmental hypoplasia of the abdominal aorta with or without renal artery ostial stenosis is a common cause of renovascular hypertension (1,2). Visceral vasculopathy may cause ischemic bowel disease. Catastrophic retroperitoneal or abdominal hemorrhage has been attributed to spontaneously ruptured arterial aneurysms in this disorder (1).