353 C2 Segmental Neurofibromas in Patients with Neurofibromatosis Type 1: A Particularly Aggressive Phenotype

Neurosurgery ◽  
2017 ◽  
Vol 64 (CN_suppl_1) ◽  
pp. 280-281
Author(s):  
Mueez Waqar ◽  
Calvin Soh ◽  
John Ealing ◽  
Susan Huson ◽  
Gareth Evans ◽  
...  
Keyword(s):  
Cervical Spine ◽  
Neurofibromatosis Type 1 ◽  
Multivariate Logistic Regression Analysis ◽  
Transverse Process ◽  
Neurofibromatosis Type ◽  
Cord Compression ◽  
Factors Associated ◽  
Imaging Characteristics ◽  
Whole Spine

Abstract INTRODUCTION Segmental neurofibromas affecting the C2 nerve roots in patients with neurofibromatosis type 1 (NF1) can be particularly aggressive, though their clinical course and imaging characteristics are unexplored. The aim of this study was to present clinical and radiological outcomes of C2 neurofibromas in patients referred to a supra-regional NF1 centre. METHODS Imaging review of regional NF1 referrals 2009–2016. Inclusion criteria: (1) diagnosis of NF1; (2) at least one C2 root neurofibroma; (3) magnetic resonance imaging of the C-spine or whole spine. Multivariate logistic regression analysis was used to identify factors associated with need for surgery. RESULTS >54 patients with 106 neurofibromas were included. The median age was 32.5 years (range 15–61 years) and there was a slight male excess (M: F, 33:21). 32% had myelopathy. Neurofibromas were distributed in all spine regions (65%) or the cervical spine alone (22%). Intradural invasion and cord compression in the cervical spine included the C2 level in 95% and 80% of patients, respectively. Compared to all other cervical spine neurofibromas, C2 neurofibromas had higher rates of intraspinal extension (75% vs. 33%; OR = 6.03, 95% CI 3.75 - 9.71; P < 0.001), intradural invasion (53% vs. 26%; OR = 3.13, 95% CI 2.04 - 4.82; P < 0.001) and cord compression (25% vs. 13%; OR = 2.20, 95% CI 1.32 - 3.69; P = 0.003). However, C2 neurofibromas had lower rates of extraforaminal growth beyond the transverse process (12% vs. 63%; OR = 0.08, 95% CI 0.04 - 0.15; P < 0.001). 13% of patients underwent surgery to decompress the C2 level. Factors associated with surgery included myelopathy (P = 0.03) but not radiological cord compression (p > 0.99). CONCLUSION C2 neurofibromas are particularly aggressive tumours due to preferential intraspinal growth.

scholarly journals C2 neurofibromas in neurofibromatosis type 1: genetic and imaging characteristics

2019 ◽  
Vol 30 (1) ◽  
pp. 126-132 ◽  
Author(s):  
Mueez Waqar ◽  
Susan Huson ◽  
D. Gareth Evans ◽  
John Ealing ◽  
Konstantina Karabatsou ◽  
...  
Keyword(s):  
Cervical Spine ◽  
Neurofibromatosis Type 1 ◽  
Transverse Process ◽  
Neurofibromatosis Type ◽  
Cord Compression ◽  
Genetic Profile ◽  
Imaging Characteristics ◽  
Mri Scans ◽  
Whole Spine

OBJECTIVEC2 nerve root neurofibromas have been reported frequently in patients with neurofibromatosis type 1 (NF1), although their genetic and imaging characteristics are unexplored. The aim of this study was to characterize genetic and spinal imaging findings in a large cohort of NF1 patients with C2 neurofibromas.METHODSThe authors performed a review of national NF1 referrals between 2009 and 2016. Inclusion criteria were at least 1 C2 root neurofibroma and cervical-spine or whole-spine MRI scans available for analysis. Blinded imaging review was performed by a neuroradiologist with an interest in NF1.RESULTSFifty-four patients with 106 C2 neurofibromas were included. The median age was 32.5 years (range 15–61 years), and there were slightly more male patients (33 vs 21 female patients). Splice-site (30%) and missense (20%) variants were frequent. Spinal neurofibromas were distributed in all spine regions (65%) or in the cervical spine alone (22%). Most (93%) C2 neurofibromas were visible on MRI scans of the head. Intradural invasion and cord compression in the cervical spine included the C2 level in 95% and 80% of patients, respectively. Compared with all other cervical spine neurofibromas in these patients, C2 neurofibromas had higher rates of intraspinal extension (75% vs 32%; OR 6.20, 95% CI 3.85–9.97; p < 0.001), intradural invasion (53% vs 26%; OR 3.20, 95% CI 2.08–4.92; p < 0.001), and cord compression (25% vs 13%; OR 2.26, 95% CI 1.35–3.79; p = 0.002). However, C2 neurofibromas had lower rates of extraforaminal growth beyond the transverse process (12% vs 62%; OR 0.09, 95% CI 0.05–0.16; p < 0.001).CONCLUSIONSC2 neurofibromas are associated with an aggressive intraspinal phenotype, limited growth outside the spinal canal, and an uncommon genetic profile. These observations require future study.

Spondyloptosis of the Cervical Spine in a Patient with Neurofibromatosis Type 1

2013 ◽  
Vol 3 (1) ◽  
pp. e5 ◽  
Author(s):  
Senthil T. Nathan ◽  
Francesco T. Mangano ◽  
Alvin H. Crawford
Keyword(s):  
Cervical Spine ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

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

2011 ◽  
Vol 14 (3) ◽  
pp. 356-366 ◽  
Author(s):  
Faisal S. Taleb ◽  
Abhijit Guha ◽  
Paul M. Arnold ◽  
Michael G. Fehlings ◽  
Eric M. Massicotte
Keyword(s):  
Cervical Spine ◽  
Tumor Progression ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Neurological Deterioration ◽  
Specific Group ◽  
Instrumented Fusion ◽  
Second Surgery

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.

scholarly journals Optic Nerve Incidentaloma

2017 ◽  
Vol 1 (1) ◽  
pp. oapoc.0000004
Author(s):  
Andrea Grosso ◽  
Eric J. Sigler ◽  
John Randolph
Keyword(s):  
Optic Nerve ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Benign Tumors ◽  
Healthy Individuals ◽  
Imaging Characteristics ◽  
Astrocytic Hamartoma

Retinal astrocytic hamartomas are rare, benign tumors of glial origin. These lesions are often associated with systemic syndromes, including tuberous sclerosis complex and neurofibromatosis type 1, but also may be encountered in otherwise healthy individuals as an acquired lesion. We present the following case to illustrate clinical and imaging characteristics typically seen in astrocytic hamartoma found as “optic nerve incidentaloma” in an otherwise healthy teenager.

Surgical correction of severe cervical kyphosis in patients with neurofibromatosis Type 1

2013 ◽  
Vol 18 (3) ◽  
pp. 274-279 ◽  
Author(s):  
Soya Kawabata ◽  
Kota Watanabe ◽  
Naobumi Hosogane ◽  
Ken Ishii ◽  
Masaya Nakamura ◽  
...  
Keyword(s):  
Cervical Spine ◽  
Neurofibromatosis Type 1 ◽  
Spinal Instrumentation ◽  
Neurofibromatosis Type ◽  
Surgical Correction ◽  
Cervical Kyphosis ◽  
Halo Vest ◽  
Bone Fusion ◽  
Posterior Correction

Severe cervical kyphosis requiring surgical treatment is rare in patients with neurofibromatosis Type 1 (NF1). When it occurs, however, dystrophic changes in the vertebrae make surgical correction and fusion of the deformity extremely difficult. The authors report on 3 cases of severe cervical kyphosis associated with NF1 that were successfully treated with combined anterior and posterior correction and fusion. All patients underwent halo-gravity traction for approximately 1 month prior to surgery to correct the deformity gradually. Posterior correction and fusion were performed with segmental spinal instrumentation consisting of lateral mass screws, lamina screws, pedicle screws, and polyethylene tape for sublaminar wiring. Anterior spinal fusion was performed using a fibula strut to induce solid bone fusion. All patients used a halo vest for postoperative external fixation. Preoperative CT scans showed dystrophic cervical spine changes, and MR images demonstrated extensive neurofibromas outside the cervical spine in all 3 patients. The preoperative kyphotic angles were as follows: Case 1, 140°; Case 2, 81°; and Case 3, 72°; after halo-gravity traction, the kyphosis angles improved to 50°, 55°, and 51°, respectively; and after surgery, they were 50°, 15°, and 27°, respectively. Solid bone union was observed in all patients at the latest follow-up. All three patients experienced postoperative complications consisting of superficial infection, severe pneumonia, and partial dislocation of the distal fibula graft after removing the halo vest, in one patient each. Although dystrophic cervical vertebral changes in these patients with NF1 complicated the correction of severe cervical kyphosis, the use of preoperative halo-gravity traction, a combination of spinal instrumentations, an anterior strut bone graft, and postoperative halo-vest fixation made it possible to correct the kyphosis, maintain the correction, and achieve solid bone fusion.

scholarly journals A Large Intrathoracic Mass in A Patient With Neurofibromatosis Type 1

2021 ◽  
Vol 7 (2) ◽  
pp. 107-112
Author(s):  
Babak Alijani ◽  
◽  
Mahsa Pakseresht Mogharab ◽  
Amin Naseri ◽  
◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Cord Compression ◽  
Tumor Formation ◽  
Spinal Deformities ◽  
Dural Ectasia ◽  
X Ray ◽  
Dural Sac ◽  
Chest X Ray

Background and Importance: Dural ectasia is circumferential extension or dilatation of the dural sac, it is commonly associated with Neurofibromatosis type 1 (NF1). Because NF1 is associated with a high likelihood of tumor formation, it is critical to distinguish it from other posterior mediastinal cancers such as neurofibroma, neuroblastoma, and ganglioneuroma. Scoliosis is the most frequently observed feature in NF1 patients with spinal deformities. Moreover, there are several distinctive radiographic features, including dural ectasia, defective pedicles, and spondylolisthesis, which are relatively less common in these patients. Surgery may be performed for stabilization of the spine. Case Presentation: The present study reports on a 62-year-old female with neurofibromatosis type 1 who was referred for an unusual chest X-ray and chest Computed Tomography (CT) revealing a thoracic mass while she was hospitalized and under observation for dyspnea. The chest X-ray film showed homogenous opacity with a well-defined margin in the right apex. The chest CT showed an enlarged intervertebral foramen and defected vertebral arch around the mass and scoliosis. Although the pre-operative diagnosis was dumbbell type neurinoma, the tumor was found to be a protrusion of dura mater with spinal fluid out of the spinal canal. Part of the wall was excised, the residual opening was repaired, and surgical stabilization was performed. Conclusion: Retrospectively, magnetic resonance imaging showed the characteristics of thoracic dural ectasia and anterior meningocele, which, in an asymptomatic case, require regular radiographic follow-ups. Surgical intervention is an alternative for patients with spinal deformities or symptomatic patients due to the adverse effects of spinal cord compression and mediastinal structures.

Sign in / Sign up

Export Citation Format

Share Document