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Open access

Genomic characterization of an esthesioneuroblastoma with spinal metastases: illustrative case

Bianca M Marin, Nathan K Leclair, Erica Shen, Avery Buehler, Upendra P Hegde, Qian Wu, Kevin Becker, Lei Li, Seth Brown, Leo J Wolansky, Hilary Onyiuke, David Choi, and Ketan R Bulsara

BACKGROUND

Esthesioneuroblastoma (ENB) is a rare neoplasm of the sinonasal tract. Currently, the optimal treatment includes maximal resection combined with radiotherapy and/or chemotherapy. Although ENBs often recur and have an aggressive clinical course, spinal metastases are extremely rare and the underlying molecular mechanisms are poorly understood.

OBSERVATIONS

Here, the authors describe a 50-year-old male with an aggressive ENB, initially treated with resection and chemotherapy/radiation, who developed multiple thoracic and lumbar spinal metastases. The authors performed targeted exome sequencing on both the resected primary tumor and biopsied spinal metastases, which revealed 12 total variants of unknown clinical significance in genes associated with the PI3K/AKT/mTOR pathway, chromatin remodeling, DNA repair, and cell proliferation. Six of these variants were restricted to the metastatic lesion and included missense mutations with predicted functional effects in GRM3, DNMT3B, PLCG2, and SPEN.

LESSONS

This report discusses the potential impact of these variants on tumor progression and metastasis, as well as the implications for identifying potential new biomarkers and therapies.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 23 (Dec 2023)

Open access

Introducing next-generation transcranial surgery with the head-mounted 3D View Vision display in extracorporeal microsurgery: illustrative cases

Young Ju Kim, Hidehito Kimura, Hiroto Kajimoto, Tatsuya Mori, Masahiro Maeyama, Kazuhiro Tanaka, and Takashi Sasayama

BACKGROUND

Exoscopy in neurosurgery offers various advantages, including increased freedom of the viewing axis while the surgeon maintains a comfortable upright position. However, the optimal monitor positioning to avoid interference with surgical manipulation remains unresolved. Herein, the authors describe two cases in which a three-dimensional head-mounted display (3D-HMD) was introduced into a transcranial neurosurgical procedure using an exoscope.

OBSERVATIONS

Case 1 was a 50-year-old man who presented with recurrent epistaxis and was diagnosed with an olfactory neuroblastoma that extended from the nasal cavity to the anterior cranial base and infiltrated the right anterior cranial fossa. Case 2 was a 65-year-old man who presented with epistaxis and was diagnosed with a left-sided olfactory neuroblastoma. In both cases, en bloc tumor resection was successfully performed via a simultaneous exoscopic transcranial approach using a 3D-HMD and an endoscopic endonasal approach, eliminating the need to watch a large monitor beside the patient.

LESSONS

This is the first report of using a 3D-HMD in transcranial surgery. The 3D-HMD effectively addressed issues with the field of vision and concentration while preserving the effectiveness of traditional microscopic and exoscopic procedures when observed on a 3D monitor. Combining the 3D-HMD with an exoscope holds the potential to become a next-generation surgical approach.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 23 (Dec 2023)

Open access

Trigeminal neuralgia secondary to osteoma and vascular compression: illustrative case

Chenglong Cao, Mingwu Li, Min Wu, and Xiaofeng Jiang

BACKGROUND

Trigeminal neuralgia (TN) is a common neurosurgical issue that has a detrimental impact on patients’ quality of life. Osteoma at the petrous apex is a rare etiology of TN. Here, the authors present a case involving the co-occurrence of petrous osteoma and a vascular loop around the trigeminal nerve. Both exerted pressure or compression on the exit of the trigeminal nerve.

OBSERVATIONS

A 46-year-old male presented with a 3-year history of persistent severe pain in the right side of his face. Magnetic resonance tomographic angiography of the trigeminal nerve revealed an abnormal signal in the right prepontine cistern, along with a vascular loop accompanying the right trigeminal nerve. A computed tomography scan of the skull indicated a nodular calcified density. The combined anterior transpetrosal approach for petrous osteoma and microvascular decompression (MVD) for the offending vessel were successfully performed. The patient was discharged without any complications or facial pain.

LESSONS

Although extremely rare, TN simultaneously secondary to petrous osteoma and offending vessels should be considered in the diagnosis. In this case, the combined surgical removal of petrous osteoma and MVD for the offending vessels proved to be an effective treatment for TN secondary to osteoma and vascular compression.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 23 (Dec 2023)

Open access

Cranial vault suspension for basilar invagination in patients with open cranial sutures: technique and long-term follow-up. Illustrative case

Christopher B Cutler, Daphne Li, and John R Ruge

BACKGROUND

Hajdu-Cheney syndrome (HCS) is an extremely rare genetic disorder characterized by severe osteoporosis, scoliosis, and persistent open cranial sutures (POCSs). Neurological complications include hydrocephalus, Chiari I malformations, and basilar invagination (BI). Surgical intervention in HCS is challenging due to severe osteoporosis, ligamentous laxity, POCSs, and extreme skeletal deformities. Herein, the authors present a case of BI repair in a patient with HCS and POCSs, requiring a novel technique of cranial vault suspension, with long-term follow-up.

OBSERVATIONS

A 20-year-old female with HCS and progressive symptomatic BI, initially managed with posterior fossa decompression and occipital to cervical fusion, subsequently required cranial vault expansion due to symptomatic shifting of her cranium secondary to POCS. This custom construct provided long-term stabilization and neurological improvement over a follow-up duration of 9.5 years. A literature review performed revealed three other cases of surgical intervention for BI in patients with HCS and clinicopathological characteristics of each case was compared to the present illustrative case.

LESSONS

POCSs in patients with BI complicate traditional surgical approaches, necessitating more invasive techniques to secure all mobile cranial parts for optimal outcomes. Using this cranial vault suspension and fusion technique results in lasting neurological improvement and construct stability.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 22 (Nov 2023)

Open access

Protracted respiratory failure in a case of global spinal syringomyelia and Chiari malformation following administration of diazepam: illustrative case

Luke Bauerle, Brandon Rogowski, Aakash Shingala, Habib Emil Rafka, Timothy Webb, Brian F Saway, Edward F Kilb, Julio A Chalela, and Nathan C Rowland

BACKGROUND

Syringomyelia is defined as dilation of the spinal cord’s central canal and is often precipitated by skull base herniation disorders. Although respiratory failure (RF) can be associated with skull base abnormalities due to brainstem compression, most cases occur in pediatric patients and quickly resolve. The authors report the case of an adult patient with global spinal syringomyelia and Chiari malformation who developed refractory RF after routine administration of diazepam.

OBSERVATIONS

A 31-year-old female presented with malnutrition, a 1-month history of right-sided weakness, and normal respiratory dynamics. After administration of diazepam prior to magnetic resonance imaging (MRI), she suddenly developed hypercapnic RF followed MRI and required intubation. MRI disclosed a Chiari malformation type I and syrinx extending from C1 to the conus medullaris. After decompressive surgery, her respiratory function progressively returned to baseline status, although 22 months after initial benzodiazepine administration, the patient continues to require nocturnal ventilation.

LESSONS

Administration of central nervous system depressants should be closely monitored in patients with extensive syrinx formation given the potential to exacerbate diminished central respiratory drive. Early identification of syrinx in the context of Chiari malformation and hemiplegia should prompt clinical suspicion of underlying respiratory compromise and early involvement of intensive care consultants.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 21 (Nov 2023)

Open access

Bilateral infraoptic origin of the anterior cerebral artery: illustrative case

Neil Majmundar, Joseph Quillin, James K Liu, and Pankaj K Agarwalla

BACKGROUND

A bilateral infraoptic origin of the anterior cerebral arteries (ACAs) is a rare anatomical variant that can be encountered during anterior skull base surgery. The ACAs arise from the internal carotid artery (ICA) at the level of the ophthalmic artery and course medially, traveling inferior to the ipsilateral optic nerves. Herein, the authors discuss the different configurations of the anatomical variant, its prevalence, and hypotheses leading to the variable configuration of this anomaly.

OBSERVATIONS

A 67-year-old woman presented with worsening dizziness over a week-long period and was found to have a large left sphenocavernous meningioma with optic, cavernous, and suprasellar extension. The tumor incorporated the left supraclinoid ICA and its branches. She underwent a left modified orbitozygomatic craniotomy for tumor resection. Early identification of the aberrant ACA anatomy was crucial in avoiding vascular injury.

LESSONS

While this variant is typically encountered during the treatment of vascular pathologies—namely, intracranial aneurysms—its existence should be kept in mind during the treatment of any anterior skull base pathology. Failure to account for the presence of this variant may lead to potential intraoperative complications.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 20 (Nov 2023)

Open access

A cavernous sinus dural arteriovenous fistula treated by direct puncture of the superior ophthalmic vein with craniotomy: illustrative case

Katsuma Iwaki, Koichi Arimura, Shunichi Fukuda, Soh Takagishi, Keisuke Ido, Ryota Kurogi, Kenichi Matsumoto, Akira Nakamizo, and Koji Yoshimoto

BACKGROUND

The authors report a case of symptomatic cavernous sinus (CS) dural arteriovenous fistula (dAVF) that was successfully treated using direct puncture of the superior ophthalmic vein (SOV) with craniotomy. CS dAVF is commonly treated using transvenous embolization (TVE), with the most common access route via the inferior petrosal sinus (IPS). However, this route is sometimes unavailable because of an occluded, hypoplastic, aplastic, or tortuous IPS. The SOV is an alternative, albeit tortuous and long, route to the CS; therefore, direct SOV puncture is occasionally performed. Direct SOV puncture is mostly percutaneous; however, in this case, it was difficult because of subcutaneous SOV narrowing.

OBSERVATIONS

As the patient experienced increased intraocular pressure, decreased vision, and eye movement disorders, CS embolization was performed via direct puncture with a craniotomy because of other access difficulties.

LESSONS

Several reports have described CS dAVF in patients receiving endovascular treatment via direct SOV puncture using a transorbital approach. However, to the best of the authors’ knowledge, this is the first reported case of a CS dAVF treated using TVE with craniotomy. This approach is useful when the SOV cannot be reached intravenously and its distance from the epidermis is long.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 20 (Nov 2023)

Open access

Management of rare atlantoaxial synovial cyst case with extension to the cerebellopontine angle: illustrative case

Shawn D’Souza, Vikram Seshadri, Harsh P Shah, Jan T Hachmann, and R. Scott Graham

BACKGROUND

Synovial cysts are a common finding in degenerative spine disease, most frequently involving the facet joints of the lumbar spine. Synovial cysts are less common in the cervical spine and rarely involve the atlantoaxial junction.

OBSERVATIONS

In this case report, the authors detail a unique presentation of a left atlantoaxial synovial cyst with large intracranial extension into the cerebellopontine angle causing progressive cranial nerve palsies resulting in tinnitus, vertigo, diminished hearing, gait imbalance, left trigeminal hypesthesia, left facial weakness, and dysarthria. The patient underwent a retromastoid craniectomy for resection of the synovial cyst, resulting in improvement and resolution of symptoms. Follow-up occurred at 6 weeks, 3 months, and 5 months postoperatively without recurrence on imaging.

LESSONS

The authors describe acute and long-term management of a unique presentation of an atlantoaxial synovial cyst including retromastoid craniectomy, intervals for follow-up for recurrence, and possible treatment options in cases of recurrence. A systematic literature review was also performed to explore all reported cases of craniocervical junction synovial cysts and subsequent surgical management.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 18 (Oct 2023)

Open access

Extra-axial cavernous malformations of the foramen magnum: illustrative cases

Bo-Han Yao, Da Li, Liang Wang, and Zhen Wu

BACKGROUND

Extra-axial cavernous malformations involving the foramen magnum are rare, and preoperative diagnosis becomes difficult when they mimic meningiomas.

OBSERVATIONS

The authors present 2 cases of extra-axial cavernous malformations involving the foramen magnum. Surgical removal of the lesions was performed via far lateral craniotomy. The authors investigate the disease and elaborate the differential diagnosis.

LESSONS

The authors recommend that extra-axial cavernous malformations should be considered in the differential diagnosis of lesions in the foramen magnum region. Intraoperative frozen sections are helpful to the diagnosis, and resection warranted a favorable long-term outcome.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 17 (Oct 2023)

Open access

Novel use of an image-guided supraorbital craniotomy via an eyebrow approach for the repair of a delayed traumatic orbital encephalocele: illustrative cases

Joseph Ifrach, Nathaniel B Neavling, Iris B Charcos, Linda Zhang, and Corey M Mossop

BACKGROUND

Traumatic orbital encephaloceles are rare but severe complications of orbital fractures. These encephaloceles can present months to years after the initial injury.

OBSERVATIONS

The authors present two cases of traumatic orbital encephalocele in young males struck by motor vehicles.

LESSONS

The exact traumatic mechanism of these encephaloceles is unknown, and diagnosis can be confounded by concomitant injuries. The use of a minimally invasive supraorbital keyhole craniotomy has the potential to change how this disease process is managed and has not been previously documented in this setting.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 15 (Oct 2023)