Spinal Deformities in Neurofibromatosis Type 1

Abstract

Neurofibromatosis type 1 (NF-1) is the most common human single-gene disorder. Skeletal complications usually present early in life and can be attributed to abnormalities of bone growth, remodeling, and repair in NF-1 or can be secondary to nearby soft-tissue abnormalities associated with NF-1. Scoliosis is the most common osseous manifestation of NF-1. It is important to recognize the dystrophic curve and to distinguish it from the non-dystrophic curve. The management of spinal disorders in young children in NF-1 continues to be problematic. The use of growing rods allows more longitudinal growth than fusion and more life freedom than bracing. The problems we have encountered are mechanical and could be expected when proximal and distal fixation is performed over an otherwise completely mobile spinal column. The multiple surgeries increase the potential for complications including infections. We continue to pursue solutions to our problems. The intent of this article is to present the spinal deformities that are most commonly associated with NF-1 and to identify the current management of spinal disorders based on the most recent literature.