Neurofibromatosis type 1: Spinal manifestations of a systemic disease

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.