Early-Onset Spinal Deformity in Neurofibromatosis Type 1: Natural History, Treatment, and Imaging Surveillance

Abstract

»: Early-onset scoliosis (EOS) or kyphosis is common in patients with neurofibromatosis (NF) and is characterized by rapid progression of deformity.

»: Traditional growing rods provide good functional and deformity outcomes in patients with NF and EOS; magnetically controlled growing rods (MCGRs) also provide good deformity correction, although high rates of revision have been reported after their use.

»: Among patients with NF type 1 (NF1), morphologic characteristics of the spinal deformity are different in those with paraspinal neurofibromas than in those without paraspinal tumors.

»: Patients with NF1 are at low risk for developing malignant peripheral nerve sheath tumors during childhood (<1%) and their lifetime (8% to 12%), and routine imaging surveillance for malignancy in the absence of symptoms should be clinically directed.

»: Further investigation is needed to standardize screening for EOS in children with NF1 and to develop guidelines for ideal imaging modalities, including their frequency and a timeline.