Neurofibromatosis type 1: spinal manifestations of a systemic disease

J Comput Assist Tomogr. 2005 Jul-Aug;29(4):532-9. doi: 10.1097/01.rct.0000163705.21892.23.

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant congenital dysplasia of the neural crest cells that affects the development of tissue and structures arising from the 3 germinal layers. Affected patients may present with spinal deformities or with bone or soft tissue abnormalities. Imaging plays an important role in the evaluation of these patients. In this article, a working diagnosis approach is proposed and the spectrum of spinal imaging findings in the NF1 patient is reviewed.

Publication types

  • Review

MeSH terms

  • Diagnosis, Differential
  • Humans
  • Magnetic Resonance Imaging
  • Neurofibromatosis 1 / complications*
  • Neurofibromatosis 1 / diagnostic imaging*
  • Spinal Diseases / diagnostic imaging*
  • Spinal Diseases / etiology*
  • Tomography, X-Ray Computed
  • Ultrasonography