Surgical management of cervical spine manifestations of neurofibromatosis Type 1: long-term clinical and radiological follow-up in 22 cases

Abstract

Object Patients with neurofibromatosis Type 1 (NF-1) at the cervical spine present significant surgical challenges due to neural compression, multiplicity of tumors, and complex spinal deformities. Iatrogenic instability following resection of tumors is underappreciated in the literature. The focus of this study was to understand the indications for stabilization in this specific group of patients. Methods The authors performed a retrospective review of 20 cases involving NF-1 patients with symptomatic cervical spine neurofibromas who underwent surgical decompression and tumor resection, with or without instrumentation, between 1991 and 2008. They also included 2 additional cases involving patients treated before 1991. Imaging findings and data pertaining to clinical presentation, intraoperative management, and postoperative assessment were compiled to clarify the indications for stabilization. An ordinal pain scale based on patient self-assessment was used. Neurological function was evaluated using American Spinal Injury Association Impairment Scale scores. Results The patient group comprised 13 men and 9 women. Their median age at presentation was 42.5 years; their median age at initial diagnosis of NF-1 was 30 years (range 8–74 years). The median duration of follow-up (since presentation) was 7 years (range 1–32 years). Progressive myelopathy was the main presenting symptom. Spinal cord compression was identified in 13 patients on presentation. Complete removal of the symptomatic tumors was performed in 11 patients. Ten patients underwent instrumented fusion during their first surgery. Six of these 10 required a second surgery—with fixation in 4 cases and without in 2. Of the 12 patients who did not receive instrumented fusion in their first surgery, 8 required a second surgery—with fixation in 5 cases and without in 3. Neurological deterioration due to progressive deformity was the indication for the second surgery in 3 of the 5 patients who required instrumented fusion only in their second surgery; the other 2 patients presented with neurological deterioration secondary to tumor progression. Four patients needed a third operation and instrumented fusion: 3 for deformity-related deficit and 1 for tumor progression. Based on the latest follow-up, 21 patients were stable clinically and radiologically, and 1 patient had died. Conclusions This specific group of patients represents a significant surgical challenge. In this retrospective analysis, emphasis is placed on early stabilization of the cervical spine to prevent late deformity as part of the comprehensive management of patients with NF-1.