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

Clinical article

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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.

Abbreviations used in this paper: ASIA = American Spinal Injury Association; NF-1 = neurofibromatosis Type 1.

Article Information

Address correspondence to: Eric M. Massicotte, M.D., Krembil Neuroscience Center, Toronto Western Hospital, Spinal Program, West Wing 4th Floor, 399 Bathurst Street, Toronto, Ontario, Canada M5T 2S8. email: eric.massicotte@uhn.on.ca.

Please include this information when citing this paper: published online January 14, 2011; DOI: 10.3171/2010.9.SPINE09242.

© AANS, except where prohibited by US copyright law.

Headings

Figures

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    Initial surgical treatment in 22 patients with NF-1 and cervical spine lesions.

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    Second surgery in 14 patients with NF-1.

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    Postoperative sagittal T2-weighted MR image obtained 1 year after the second operation showing extensive cord compression at the C6–7 level and focal cervicothoracic junction deformity (Case 9).

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    Postoperative sagittal T2-weighted MR images. A: Image showing myelomalacia within the upper cervical cord and kyphotic deformity and congenital fusion of the C6–7 vertebral bodies (Case 8). B: Image showing angulation deformity at the C5–6 level (Case 12). C: Image showing severe spinal deformity involving the cervicothoracic junction (Case 15).

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    Lateral cervical radiograph obtained in Case 15 showing that even with multiple surgical approaches, deformity can still progress. The progression of deformity necessitated a third operation in this case.

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    Postoperative lateral radiographs. A: Cervical radiograph showing lateral mass screw C-1 and pars screw C-2 fixation (Case 11). B: Cervical radiograph showing transarticular screw C-1 and lateral mass screws C-1 and C-2 fixation (Case 3). C: Cervical radiograph showing lateral mass screws C3–6 and pedicle screws C7-–T2 (Case 9, third operation). D: Cervical and upper thoracic spine radiograph showing occipital-cervical-thoracic fixation with the Depuy Mountaineer OCT Spinal System (Depuy Spine) and anterior C3–6 fusion with Synthes allograft spacers and Synthes titanium cervical spine locking plate (Case 14, third operation).

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    Sagittal T2-weighted MR image showing nerve sheath tumors within soft tissues of the neck, kyphotic deformity of the upper cervical spine, and central canal stenosis at upper cervical spine in Case 2. Histopathological examination showed plexiform neurofibroma.

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