Rare manifestation of Neurofibromatosis type 1: A plexiform neurofibroma involving the mediastinum and lungs with endobronchial neurofibromata

J Med Imaging Radiat Oncol. 2019 Feb;63(1):76-78. doi: 10.1111/1754-9485.12802. Epub 2018 Sep 20.

Abstract

Neurofibromatosis type 1 (NF1) is a multisystem phakomatosis. The intrathoracic manifestations of NF1 are protean. We describe a rare case of a plexiform neurofibroma infiltrating the mediastinum and lungs with multiple endobronchial neurofibromata. To our knowledge, a mediastinal plexiform neurofibroma extending into the lungs on CT has not been reported.

Keywords: Neurofibromatosis type 1; endobronchial nodules; lung; mediastinal neurofibroma; plexiform neurofibroma.

Publication types

  • Case Reports

MeSH terms

  • Biopsy, Fine-Needle
  • Bronchial Diseases / diagnostic imaging*
  • Bronchial Diseases / pathology
  • Bronchoscopy
  • Diagnosis, Differential
  • Humans
  • Lung Diseases / diagnostic imaging*
  • Lung Diseases / pathology
  • Male
  • Mediastinal Diseases / diagnostic imaging*
  • Mediastinal Diseases / pathology
  • Neurofibroma, Plexiform / diagnostic imaging*
  • Neurofibroma, Plexiform / pathology
  • Neurofibromatosis 1 / diagnostic imaging*
  • Neurofibromatosis 1 / pathology
  • Tomography, X-Ray Computed
  • Young Adult