Neurofibromatosis 1 vasculopathy manifesting as a peripheral aneurysm in an adolescent

Pediatr Radiol. 2014 Oct;44(10):1328-31. doi: 10.1007/s00247-014-2991-3. Epub 2014 Apr 27.

Abstract

Arterial vasculopathy is a well-recognized but uncommon manifestation of neurofibromatosis type 1 (NF-1). It can manifest as stenoses, aneurysms or arteriovenous malformations. NF-1 vasculopathy typically involves the aorta, visceral arteries or carotid-vertebral circulation. Aortic and visceral vasculopathy typically presents as stenotic lesions, while aneurysms have been reported primarily in the subclavian/vertebral arteries. Aneurysms of the peripheral/extremity arteries are an extremely rare complication of NF-1 that may present as a mass or spontaneous rupture. We present the case of a teenage boy with an arm mass secondary to an aneurysm. We hope this case will increase recognition of the variable clinical manifestations of NF-1 vasculopathy among radiologists.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Aneurysm / etiology*
  • Aneurysm / pathology*
  • Diagnosis, Differential
  • Elbow / blood supply
  • Elbow / pathology
  • Humans
  • Magnetic Resonance Angiography / methods*
  • Male
  • Neurofibromatosis 1 / complications*
  • Neurofibromatosis 1 / pathology*
  • Peripheral Arterial Disease / etiology*
  • Peripheral Arterial Disease / pathology*