Neurofibromatosis 1 vasculopathy manifesting as a peripheral aneurysm in an adolescent

Shannon G. Farmakis, Min Han, Frances White, Geetika Khanna

Research output: Contribution to journalReview articlepeer-review

6 Scopus citations

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.

Original languageEnglish
Pages (from-to)1328-1331
Number of pages4
JournalPediatric radiology
Volume44
Issue number10
DOIs
StatePublished - Sep 23 2014

Keywords

  • Adolescent
  • Aneurysm
  • Magnetic resonance imaging
  • Neurofibromatosis type 1
  • Vasculopathy

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