Abstract
BACKGROUND
Neurofibromatosis type 1 (NF1) is a multisystem neurocutaneous disorder associated with skeletal dysplasia, dural ectasia, and, less commonly, spinal meningoceles. Although these lesions are often asymptomatic, they may progressively enlarge over time, resulting in spinal deformity and compression of adjacent neurovascular and aerodigestive structures. Cervical and cervicothoracic meningoceles are particularly rare and pose unique diagnostic and management challenges.
OBSERVATIONS
A 43-year-old woman with NF1 presented with progressive gait imbalance and left upper limb dysesthesia and weakness more than 1 decade after initial diagnosis of a right-sided cervical meningocele that had been managed conservatively. Serial imaging over 11 years demonstrated gradual enlargement of a cervicothoracic lateral meningocele, ultimately measuring more than 10 cm, with associated severe kyphoscoliosis, vertebral scalloping, foraminal widening, spinal cord deviation, and displacement of the vertebral and carotid arteries, as well as anterior compression of the esophagus and airway. Neurological deficits correlated with foraminal compression at the C5–T1 levels. Brain MRI additionally revealed bilateral optic pathway gliomas, suggesting a more extensive NF1 phenotype. Given progressive neurological decline and neurovascular compromise, surgical repair of the anterior cervical meningocele was performed, resulting in marked postoperative radiological improvement and relief of mass effect.
LESSONS
Spinal meningoceles associated with NF1 may follow an indolent but progressive course over many years, emphasizing the necessity of long-term clinical and radiological surveillance even in initially asymptomatic patients. Cervical involvement, although uncommon, can lead to significant spinal deformity and neurovascular compression. Early recognition of clinical deterioration should prompt timely surgical reassessment. Multidisciplinary management is essential in patients with complex NF1 manifestations, particularly when spinal pathology coexists with other CNS tumors.
Keywords: neurofibromatosis type 1, cervical meningocele, dural ectasia, optic pathway glioma, spinal deformity, spinal cord displacement
ABBREVIATIONS: IR = interventional radiology, MEK = mitogen-activated protein kinase kinase, NF1 = neurofibromatosis type, OPG = optic pathway glioma
Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a common autosomal dominant neurocutaneous disorder with a prevalence of 1 in 3000 live births.1 It results from mutations in the NF1 gene on chromosome 17q11.2, which encodes neurofibromin, a tumor suppressor protein involved in the RAS/MAPK signaling pathway.2 The clinical spectrum of NF1 is diverse and includes cutaneous findings (café-au-lait spots and axillary freckling), peripheral and plexiform neurofibromas, skeletal dysplasias, and CNS manifestations such as optic pathway gliomas (OPGs) and learning disabilities.3,4
Spinal abnormalities in NF1 are well documented but often underrecognized, particularly in adults. These include scoliosis, dural ectasia, vertebral scalloping, and spinal tumors (neurofibromas or meningiomas).5,6 One of the more unusual manifestations is the development of spinal meningoceles—herniations of the dura mater through areas of bony weakness, often associated with dural ectasia. These can be lateral (neural foraminal) or posterior and are most frequently located in the thoracolumbar spine.7 Cervical meningoceles are rare but clinically significant due to the compact anatomy and proximity to critical neurovascular structures.8
Meningoceles in NF1 may remain asymptomatic for years but can cause spinal deformity, cord displacement, neurovascular compression, and even respiratory compromise as they enlarge.9 Management is typically conservative unless neurological deficits, progressive enlargement, or compressive symptoms develop, in which case resection or stabilization may be necessary.10 The decision-making process in such cases is complex due to the inherent risks of spinal surgery in anatomically distorted regions and the potential for recurrence.
We report a rare case of a progressively enlarging cervicothoracic meningocele in an adult NF1 patient with associated spinal deformity, neural compression, and OPGs, highlighting the diagnostic and management challenges in this complex neurocutaneous syndrome.
Illustrative Case
We present the case of a 43-year-old female with a known history of NF1 who presented to the emergency department with a sudden onset of gait imbalance and burning sensation in the left upper limb. She had been evaluated by the neurosurgery service at our institution approximately 15 years earlier for a large cervical spinal meningocele. At that time, she was neurologically intact and did not exhibit motor deficits, signs of myelopathy, or neurovascular compromise. She reported only mild neck fullness without functional limitation or radicular symptoms. Imaging at that time demonstrated a lateral cervicothoracic meningocele associated with dural ectasia; however, there was no significant spinal cord compression, intramedullary signal change, or evidence of airway or vascular compromise. Given the absence of neurological deficits and the known surgical risks in patients with NF1, particularly in the setting of dural fragility and distorted spinal anatomy, surgical intervention was not recommended, and she was managed conservatively with serial clinical and radiological follow-up.
On current presentation, the patient was alert and fully oriented, with a Glasgow Coma Scale score of 15. Extraocular movements were full, and pupils were bilaterally equal and reactive to light. Cutaneous examination revealed multiple neurofibromas distributed across the back and left elbow, consistent with her NF1 diagnosis. A large, warm, and tender mass was noted on the right side of the neck, extending anteriorly across the upper chest. Neurologically, she was wheelchair-bound and had an unsteady, shuffling gait with a compensatory backward arching of the spine and upward neck flexion on standing.
Motor examination demonstrated marked weakness in the left upper limb, grade 2/5 in the deltoid (C5), biceps (C6), and triceps (C7). Motor strength was otherwise preserved in the right upper limb and both lower extremities. Sensory examination revealed numbness and burning dysesthesia in the left fifth digit (C8 dermatome) and the medial aspect of the left upper arm (T1 dermatome). Sensation was intact in both lower limbs. There were no cranial nerve deficits or signs of bowel or bladder dysfunction. Her family history was notable for NF1 in her father and 9 of her 12 siblings. Her mother was unaffected. A review of her prior imaging from 2011 demonstrated dural ectasia and a large right-sided lateral meningocele extending from C5 to T1, with scalloping of the vertebral bodies and widening of the right neural foramina (Fig. 1A–D). MRI studies in 2013 and 2015 showed interval enlargement of the lesion, stable cord anatomy, and no evidence of intramedullary pathology, although worsening kyphoscoliosis and foraminal expansion were noted (Fig. 1E–L).
FIG. 1.
Serial MR images of the cervical spine obtained in 2011 (A–D), 2013 (E–H), and 2015 (I–L), demonstrating progressive enlargement of the right-sided cervicothoracic meningocele in a patient with NF1. A: Sagittal T2-weighted image showing a CSF-intensity, multilobulated lesion arising from the right cervical spine and extending anterolaterally. The lesion causes widening of the spinal canal and right neural foramina with rightward displacement of the spinal cord. B: Sagittal T1-weighted image showing the same lesion appearing hypointense, consistent with a fluid-filled meningocele without intralesional hemorrhage or solid enhancement. C and D: Coronal T2-weighted (C) and T1-weighted (D) images highlighting the expansile right-sided meningocele extending into the neural foramina and paraspinal soft tissues, causing distortion of the surrounding osseous and soft tissue structures. E: Sagittal T2-weighted MR image showing a well-defined hyperintense lesion extending from the right side of the cervical spinal canal through an enlarged neural foramen, consistent with a lateral meningocele. F: Axial T2-weighted image demonstrating the CSF-intensity lesion arising from the right neural foramen and displacing adjacent soft tissues. G: Coronal T2-weighted image showing the meningocele occupying the right paravertebral space and exerting mild mass effect without midline shift. H: Axial T1-weighted image showing a thin-walled, hypointense lesion consistent with a CSF-filled structure without enhancement. I: Coronal MR scout image showing further right-sided cervical mass enlargement and progression of scoliotic deformity. J: Sagittal T2-weighted image showing interval enlargement of the previously noted right paraspinal cystic lesion, now measuring up to 5.3 cm. K: Sagittal T1-weighted image showing maintained hypointensity of the lesion and no evidence of intralesional hemorrhage or enhancement. L: Axial T2-weighted image showing increased lateral extension of the meningocele and greater displacement of adjacent musculature, consistent with interval growth.
Current CT imaging of the neck performed in June 2025 (Fig. 2I–J) revealed interval progression of the cervical meningocele, now measuring 10 × 6 × 8 cm. The lesion extended anteriorly and crossed the midline, displacing the esophagus, airway, thyroid gland, and major vascular structures, including the vertebral and carotid arteries. Posteriorly, the lesion caused mass effect on the underlying lung parenchyma. There was no associated lymphadenopathy or airway compromise.
FIG. 2.
Preoperative cervicothoracic MR images (A–H) demonstrating extensive skeletal and paraspinal involvement in a patient with NF1 and progressive cervicothoracic meningocele. A: Sagittal T1-weighted image of the thoracic spine showing scattered hyperintense paraspinal lesions consistent with subcutaneous neurofibromas and focal kyphotic deformity. B: Coronal T1-weighted image of the lumbosacral spine demonstrating patchy signal heterogeneity of the sacral ala and pelvis, suspicious for osseous remodeling or infiltrative lesions. C: Sagittal T2-weighted image of the cervicothoracic junction revealing a lobulated CSF-intensity meningocele with spinal cord displacement and posterior scalloping of vertebral bodies. D: Sagittal T1-weighted image of the same region showing hypointense signal within the meningocele and evidence of vertebral height loss at the lower cervical and upper thoracic levels. E: Sagittal T2-weighted image of the cervical spine showing a large anteriorly displaced CSF-filled sac occupying the right neural foramina and compressing adjacent structures. F: Coronal T2-weighted postcontrast image of the upper thoracic spine showing peripheral rim enhancement of the lesion and vertebral scalloping. G: Sagittal T1-weighted image with fat suppression revealing heterogeneous enhancement of the right paravertebral soft tissue and T12–L1 vertebral body, suggestive of possible tumor or reactive changes. H: Sagittal T2-weighted image showing scoliosis, multiple subcutaneous nodules, and posteriorly scalloped vertebral bodies, reflecting the chronic effects of dural ectasia and neurofibromatosis-related deformity. Preoperative contrast-enhanced CT images of the neck (I and J) showing a large, expansile cervicothoracic meningocele with significant mass effect in a patient with NF1. I: Sagittal CT reconstruction revealing a large, lobulated, low-attenuation cystic lesion in the posterior cervical region extending inferiorly, consistent with a lateral meningocele. The lesion causes anterior displacement of the trachea and esophagus. J: Coronal CT image showing the meningocele crossing the midline, with substantial mass effect on surrounding soft tissues and anterior compression of the airway.
Subsequent MRI of the brain and entire spine confirmed progression of the cervicothoracic meningocele with severe kyphoscoliosis, expansion through the neural foramina, and lateral displacement of the spinal cord without signal changes suggestive of myelomalacia (Fig. 2A–H). Bilateral optic nerve thickening and chiasmatic involvement were seen, consistent with NF1-related OPGs (Fig. 3A–D). MRI of the lumbar spine showed degenerative changes at L4–5 and L5–S1 with anterolisthesis, retrolisthesis, and foraminal stenosis. A subcutaneous lumbar neurofibroma measuring 4 × 2 × 4 cm was identified (Fig. 3E–H). There was also concerning heterogeneous enhancement at T12–L1 and the left upper sacrum suggestive of possible osseous remodeling or tumor, warranting further evaluation. MRA of the lower neck was done, and segmental vascular narrowing involving the distal V2 segment of the right vertebral artery was seen (Fig. 4).
FIG. 3.
Axial MR images of the brain (A–D) demonstrating bilateral optic nerve involvement and nonspecific white matter changes in a patient with NF1. A: FLAIR image showing bilateral high signal intensity and thickening of the optic nerves with involvement of the chiasmatic and proximal tract regions, consistent with OPGs. B: FLAIR image at a slightly higher level revealing additional nonspecific high signal foci in the subcortical white matter of the frontoparietal lobes, in keeping with unidentified bright objects commonly seen in NF1. C: Postcontrast T1-weighted image showing subtle enhancement along the optic nerves without evidence of intracranial masses or contrast-enhancing lesions elsewhere. D: T2-weighted image highlighting tortuosity and enlargement of the bilateral optic nerves with hyperintense signal, further supporting the diagnosis of NF1-associated OPGs. MR images of the lumbar spine (E–H) showing severe degenerative and structural changes in a patient with NF1. E: Sagittal T2-weighted image demonstrating multilevel degenerative disc disease with significant disc height loss at L4–5 and L5–S1. Notably, posterior subluxation of L5 is evident, along with severe foraminal stenosis and associated subcutaneous neurofibromas. F: Coronal T1-weighted image showing heterogeneous signal intensity within the right paravertebral region and L1 vertebral body, suspicious for osseous remodeling or possible tumor infiltration. G: Sagittal T1-weighted image revealing retrolisthesis of L5 over S1 and remodeling of the vertebral endplates, in keeping with chronic instability and degenerative changes. H: Axial T2-weighted image at the L5–S1 level showing severe right neural foraminal narrowing and compression of the exiting nerve root.
FIG. 4.
Axial MR image (A) and MR angiograms (B–D) illustrating vascular displacement and narrowing secondary to a large cervicothoracic meningocele in a patient with NF1. A: T1-weighted postcontrast MR image showing a large right-sided meningocele exerting mass effect on the adjacent neck structures. The carotid arteries and jugular veins appear displaced and compressed within the distorted anatomy. B: Coronal MR angiogram maximum intensity projection showing segmental narrowing of the right vertebral artery at the distal V2 segment as it courses adjacent to the expanded meningocele. C: Oblique MR angiogram reconstruction highlighting the vertical displacement and distortion of the bilateral carotid and vertebral arteries, more pronounced on the right side. D: Sagittal-oblique MR angiogram demonstrating anterior displacement of the right vertebral artery, with kinking and mild narrowing as it traverses the region of mass effect from the meningocele.
This constellation of findings suggests progressive spinal deformity and mass effect due to the enlarging meningocele, now associated with neurovascular displacement and emerging neurological symptoms in a previously nonoperative case. A multidisciplinary team meeting was held with the neuroradiology and interventional radiology (IR) teams to discuss the possibility of IR percutaneous aspiration and glue injection. Percutaneous aspiration with glue embolization was not recommended and therefore not pursued due to the wide neck of the meningocele; direct communication with the thecal sac, which posed a high risk of persistent CSF leakage; potential glue migration into the spinal canal; and proximity to displaced vascular structures. Therefore, definitive surgical repair with direct dural reconstruction was deemed more appropriate. Surgical planning was undertaken, and an anterolateral approach was selected due to the predominantly anterior extension of the lesion, severe kyphoscoliosis with distortion of the posterior anatomy, and significant anterior neurovascular displacement. This approach allowed controlled exposure, direct visualization of the sac neck, and precise dural repair. Furthermore, a posterior approach would not have adequately addressed the anterior mass effect on the esophagus, airway, vertebral arteries, and carotid arteries, and would have limited direct visualization for neurovascular dissection and dural reconstruction. Repair of the anterior cervical meningocele was planned (Video 1). The patient was placed supine with head tilted to the left side and right side exposed. Intraoperative neuromonitoring was not utilized during the procedure, as the surgical intervention primarily involved careful dissection and repair of the meningocele sac without direct manipulation of the spinal cord. Marking was done at the level of the C5–6–7 oblique skin incision. Then, a skin incision was made and subplatysmal dissection was performed by cutting the platysma across its fibers up and down with subplatysmal flaps raised. A self-retaining retractor was placed. Then, the cervical fascia was opened between the sternocleidomastoid muscle laterally and the omohyoid superior belly on the medial side. Blunt finger dissection was done between the trachea and esophagus on the medial side and the carotid sheath on the lateral side. The meningocele sac was identified and dissected free from the longus coli muscles. The sac was opened, and at narrowest point of the neck, it was dissected free from the prevertebral space, internal jugular vein, and esophagus. The interior of the sac was examined with a microscope and the spinal cord was identified and pushed back into the spinal canal along with the nerve roots. The sac was repaired with a 2 × 4–cm Dura-Guard patch. Tissel glue was then applied, followed by a hemopatch augumented with TachoSil and onlay dura. The anesthetist checked for CSF leakage with the Valsalva maneuver. No surgical drain was placed at the end of the procedure, as meticulous hemostasis was achieved and no CSF leakage was observed intraoperatively. The patient tolerated the procedure well and was kept intubated and transferred to the intensive care unit in stable condition. Postoperative MRI (Fig. 5) showed marked improvement in the size of the meningocele and resolution of its exerted mass effect.
FIG. 5.
Postoperative cervical MR images demonstrating extensive skeletal and paraspinal involvement in a patient with NF1 and marked improvement in cervical meningocele. A: Coronal myelograms of the cervicothoracic spine showing marked improvement of the previously mentioned large anteriorly displaced CSF-filled sac in the right neural foramina and decompression of adjacent structures. B–D: Sagittal T2-weighted (B), sagittal T1-weighted (C), and axial T2-weighted (D) images of the cervical spine showing a marked improvement and resolution of the previously mentioned large anteriorly displaced CSF-filled sac in the right neural foramina and decompression of adjacent structures.
VIDEO 1. Intraoperative video demonstrating an anterolateral cervical approach for repair of a large cervicothoracic meningocele in a patient with NF1. Click here to view.
The patient was discharged home 2 days after the procedure in good condition. She was scheduled for outpatient physical therapy to address left upper limb weakness and for follow-up appointments with our neurosurgical team and the orthopedic service for management of her kyphoscoliosis. At 4 months postoperatively, the patient demonstrated significant neurological improvement. Proximal strength in the left upper limb improved to 4−/5 in the deltoid (C5), biceps (C6), and triceps (C7). She regained ambulatory function with assistance. Additionally, the right-sided neck swelling was substantially reduced in size on clinical examination. A follow-up MRI study was scheduled 3 months later for radiological assessment.
Informed Consent
The necessary informed consent was obtained in this study.
Discussion
Observations
Spinal meningoceles and dural ectasia are rare but recognized manifestations of NF1, arising from dural fragility and associated vertebral dysplasia.5 In this case, the patient demonstrated a progressively enlarging cervicothoracic meningocele over more than 1 decade, accompanied by kyphoscoliosis, posterior vertebral body scalloping, foraminal widening, and displacement of adjacent neurovascular structures. This gradual progression highlights the insidious nature of spinal involvement in NF1 and underscores the importance of long-term imaging surveillance, even in patients who are initially asymptomatic.
Dural ectasia in NF1 is believed to result from intrinsic dural weakness due to mesodermal dysplasia, allowing chronic CSF pulsations to progressively expand the dural sac.6 This expansion may lead to erosion of adjacent osseous structures, producing characteristic imaging findings such as posterior vertebral scalloping, foraminal widening, and pseudomeningocele formation. Although thoracolumbar involvement is more commonly reported, cervical involvement—particularly with lateral extension and associated vascular compression—remains uncommon.7,8
In the present case, the lesion was remarkable for its size and extent, with MRI and CT demonstrating a lobulated meningocele exceeding 10 cm, crossing the midline, and exerting mass effect on the esophagus and airway, while displacing the vertebral and carotid arteries. These radiographic findings correlated with the patient’s progressive neurological symptoms, including left upper extremity weakness involving the C5–7 myotomes and dysesthesia in the C8–T1 dermatomes, consistent with foraminal compression and spinal cord deviation.
Surgical intervention for spinal meningoceles in NF1 is typically reserved for symptomatic lesions, rapidly enlarging masses, or cases associated with neurovascular compromise or spinal instability.9,10 However, operative management is technically challenging due to the distorted anatomy, extensive dural involvement, high risk of CSF leakage, and potential for recurrence. In this patient, the combination of severe cervicothoracic kyphoscoliosis, vertebral collapse, and extensive foraminal widening significantly increased the complexity of potential surgical exposure and stabilization.
An additional notable feature in this case was the coexistence of bilateral OPGs. OPGs occur in approximately 15%–20% of children with NF1 and are often asymptomatic in adulthood.11 Their presence alongside extensive spinal dural pathology may suggest a more aggressive or widespread NF1 phenotype. Management of NF1-associated OPGs remains individualized, ranging from observation in stable cases to intervention for progressive, disfiguring tumors or those causing mass effect.12 Conventional chemotherapy regimens, particularly carboplatin and vincristine, have historically been the standard of care for progressive disease.13 More recently, mitogen-activated protein kinase kinase (MEK) inhibitors such as selumetinib have demonstrated significant efficacy, achieving radiographic tumor reduction and stabilization or improvement of visual function in clinical trials.14,15
Lessons
This case underscores the insidious yet relentlessly progressive nature of spinal manifestations in NF1, particularly dural ectasia and spinal meningoceles, which may remain clinically silent for years before culminating in substantial neurological, structural, and neurovascular compromise. Even in asymptomatic patients, long-term radiological surveillance is essential, as gradual enlargement can lead to marked deformity, spinal instability, and displacement of critical neurovascular structures, especially when cervical or cervicothoracic regions are involved. Although cervical meningoceles are uncommon, their presence warrants heightened vigilance given their potential for progressive neurological deficits and surgical complexity. Surgical intervention should be reserved for symptomatic or rapidly progressive lesions and demands meticulous planning due to the technical challenges and elevated complication risk inherent to NF1-associated connective tissue abnormalities. The coexistence of extensive spinal pathology with bilateral OPGs in this patient suggests a more severe NF1 phenotype, reinforcing the need for comprehensive systemic evaluation, including serial imaging and annual ophthalmological assessment. Advances in targeted molecular therapies, such as MEK inhibitors, have expanded treatment options for NF1-associated tumors and highlight the importance of early detection in modifying disease trajectory. Ultimately, optimal management requires a multidisciplinary, longitudinal approach to balance timely intervention against procedural risk while anticipating future complications in this complex patient population.
Disclosures
The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.
Author Contributions
Conception and design: Hafiz, Mousa, Alsindi, Aref. Acquisition of data: Hafiz, Mousa. Analysis and interpretation of data: Hafiz. Drafting the article: Hafiz, Mousa, Alsindi. Critically revising the article: Aref. Reviewed submitted version of manuscript: Hafiz, Mousa, Turkistani, Aref. Approved the final version of the manuscript on behalf of all authors: Hafiz. Administrative/technical/material support: Turkistani, Alsindi. Study supervision: Turkistani, Aref.
Supplemental Information
Videos
Video 1. https://vimeo.com/1172565481.
Correspondence
Badr Hafiz: King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia. neurosurg.badr@gmail.com.
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