A case of coarctation of the abdominal aorta and renal artery stenosis due to neurofibromatosis type 1

Abstract

We report a case of an adolescent female with history of neurofibromatosis type 1 (NF1) found to have incidental hypertension. She was hypertensive in all four extremities with medical treatment. CT angiogram confirmed narrowing of the abdominal aorta above the bifurcation and atrophic left kidney (figures 1–3). Treatment with a graft to bypass the stenotic segment was performed (figure 4). NF1 has many phenotypes. A rare phenotype is NF1 vasculopathy, with prevalence of up to 6% in patients with NF1.1 The loss of neurofibromin, encoded by the NF1 gene, regularly expressed by endothelial cells to regulate cell proliferation, may lead to unregulated smooth muscle proliferation.2 NF1 vasculopathy can take the form of midaortic syndrome or coarctation of the abdominal aorta. Midaortic syndrome is rare, found in <10% of patients with NF1,3 and is commonly associated with renal artery stenosis as in this patient. It typically leads to hypertension that manifests in childhood. On histopathology, one can find intimal proliferation and the presence of neurofibromas.4