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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

Hemifacial spasm caused by multiple vascular attachments due to remote compression effects of a dermoid cyst in the cerebellar hemisphere: illustrative case

Kento Hirayama, Takafumi Tanei, Takenori Kato, Toshinori Hasegawa, Eiji Ito, Yusuke Nishimura, and Ryuta Saito

BACKGROUND

Dermoid cysts located laterally in the posterior fossa are rare. The authors report the case of a dermoid cyst in the cerebellar hemisphere presenting with hemifacial spasm (HFS) caused by multiple vascular attachments due to remote compression effects.

OBSERVATIONS

A 48-year-old man presented with left HFS. Computed tomography showed a mass lesion in the left cerebellar hemisphere with calcification and erosion of skull bone. Magnetic resonance imaging showed no contrast enhancement of the lesion and a dural defect. The lesion compressed the brainstem and cerebellopontine cistern, but no vascular attachments to the facial nerve were seen. Tumor removal and microvascular decompression were performed. The lesion was composed of soft tissue containing oil-like liquid and hairs, and the border of the cerebellar arachnoid was clear. There were multiple vascular attachments to the root exit zone, facial nerve, and brainstem. After displacing these arteries, the intraoperative abnormal muscle response disappeared. Histopathological findings showed stratified squamous epithelium, keratin flakes, calcifications, and hairs. The HFS disappeared completely and has remained absent for 27 months.

LESSONS

The dermoid cyst originating from occipital bone compressed the cerebellar hemisphere, displacing multiple vessels and leading to HFS. Tumor removal and the removal of all vascular factors can completely resolve HFS.

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

Consecutive resections of double pituitary adenoma for resolution of Cushing disease: illustrative case

Stephanie A Armstrong, Samon Tavakoli, Ipsit Shah, Brandon R Laing, Dylan Coss, Adriana G Ioachimescu, James Findling, and Nathan T Zwagerman

BACKGROUND

Double pituitary adenomas are rare presentations of two distinct adenohypophyseal lesions seen in <1% of surgical cases. Increased rates of recurrence or persistence are reported in the resection of Cushing microadenomas and are attributed to the small tumor size and localization difficulties. The authors report a case of surgical treatment failure of Cushing disease because of the presence of a secondary pituitary adenoma.

OBSERVATIONS

A 32-year-old woman with a history of prolactin excess and pituitary lesion presented with oligomenorrhea, weight gain, facial fullness, and hirsutism. Urinary and nighttime salivary cortisol elevation were elevated. Magnetic resonance imaging confirmed a 4-mm3 pituitary lesion. Inferior petrosal sinus sampling was diagnostic for Cushing disease. Primary endoscopic endonasal transsphenoidal resection was performed to remove what was determined to be a lactotroph-secreting tumor on immunohistochemistry with persistent hypercortisolism. Repeat resection yielded a corticotroph-secreting tumor and postoperative hypoadrenalism followed by long-term normalization of the hypothalamic-pituitary-adrenal axis.

LESSONS

This case demonstrates the importance of multidisciplinary management and postoperative hormonal follow-up in patients with Cushing disease. Improved strategies for localization of the active tumor in double pituitary adenomas are essential for primary surgical success and resolution of endocrinopathies.

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

Open access

Refractory seizures secondary to radiation-induced focal cortical dysplasia/neuronal gigantism: illustrative case

Annabelle Shaffer, Michael Pozin, Sharif Nasr, Paul M Arnold, Fadi Mikhail, Graham Huesmann, and Wael Hassaneen

BACKGROUND

Focal cortical dysplasia is a structural cause of drug-resistant epilepsy commonly identified in childhood. In rare cases, radiation-induced injury has led to radiation-induced cortical dysplasia, also known as “focal neuronal gigantism.”

OBSERVATIONS

The authors present a 53-year-old woman with recurrent status epilepticus events after she had radiation therapy and surgery for a left frontal meningioma several years prior. Imaging revealed findings consistent with radiation necrosis and possible recurrence. The patient’s status epilepticus events required escalating therapies to manage. Scalp electroencephalography indicated that the seizure’s origin was in the left hemisphere. A craniotomy was performed to remove the left frontal lesion, and histopathology was consistent with radiation-induced focal cortical dysplasia/neuronal gigantism. The patient’s seizures ceased following the surgery, and she remains on maintenance antiseizure medications.

LESSONS

Radiation-induced focal cortical dysplasia/neuronal gigantism is an incredibly rare complication of therapy. However, it warrants consideration in the context of radiation necrosis and intractable epilepsy.

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

Open access

Tumor characteristics guiding selection of channel-based versus open microscopic approaches for resection of atrial intraventricular meningiomas: patient series

Jeffrey J Feng, Stephanie K Cheok, Mark S Shiroishi, and Gabriel Zada

BACKGROUND

Atrial intraventricular meningiomas (AIMs) are relatively rare and typically deep-seated tumors that can mandate resection. Compared with transsulcal or transcortical open microscopic approaches, port- or channel-based exoscopic approaches have facilitated a less invasive alternative of tumor access and resection. The authors present a case series of seven patients with AIMs who underwent open microscopic versus channel-based exoscopic resection by a senior neurosurgeon at their institution between 2012 and 2022 to understand patient and tumor features that lent themselves to selection of a particular approach.

OBSERVATIONS

In the patients harboring three AIMs selected for channel-based resection, the average AIM diameter (2.9 vs 5.2 cm) was smaller, the AIMs were deeper from the cortical surface (2.5 vs 1.1 cm), and the patients had a shorter average postoperative length of stay (3.3 vs 5.8 days) compared with the four patients who underwent open resection. Gross-total resection was achieved in all cases. Complications for both groups included transient homonymous hemianopsia and aphasia. No recurrences were identified over the follow-up period.

LESSONS

The authors demonstrate that channel-based exoscopic resection is safe and effective for AIMs 3 cm in diameter and over 2 cm deep. This may help guide neurosurgeons in future approach selection based on tumor features, including size/volume, location, and depth from cortical surface.

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

Spinal metastases of pineal region glioblastoma with primitive neuroectodermal features highlighting the importance of molecular diagnoses: illustrative case

Aaryan Shah, Neelan J Marianayagam, Aroosa Zamarud, David J Park, Amit R Persad, Scott G Soltys, Steven D Chang, and Anand Veeravagu

BACKGROUND

Glioblastoma (GBM) is the most common primary brain tumor with poor patient prognosis. Spinal leptomeningeal metastasis has been rarely reported, with long intervals between the initial discovery of the primary tumor in the brain and eventual spine metastasis.

OBSERVATIONS

Here, the authors present the case of a 51-year-old male presenting with 7 days of severe headache, nausea, and vomiting. Magnetic resonance imaging of the brain and spine demonstrated a contrast-enhancing mass in the pineal region, along with spinal metastases to T8, T12, and L5. Initial frozen-section diagnosis led to the treatment strategy for medulloblastoma, but further molecular analysis revealed characteristics of isocitrate dehydrogenase–wild type, grade 4 GBM.

LESSONS

Glioblastoma has the potential to show metastatic spread at the time of diagnosis. Spinal imaging should be considered in patients with clinical suspicion of leptomeningeal spread. Furthermore, molecular analysis should be confirmed following pathological diagnosis to fine-tune treatment strategies.

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

Open access

Endoscopic placement of a triventricular stent for complex hydrocephalus and isolated fourth ventricle: illustrative case

V. Jane Horak, Beste Gulsuna, Melissa A LoPresti, and Michael DeCuypere

BACKGROUND

Hydrocephalus is commonly encountered in pediatric neurosurgery. The etiology is diverse, and complexity in management increases in patients with loculated or trapped ventricles. The authors sought to examine a treatment option of endoscopic placement of a triventricular stent in a pediatric patient with complex hydrocephalus and a trapped fourth ventricle.

OBSERVATIONS

In this case, the authors present the treatment of complex hydrocephalus with a trapped fourth ventricle in a pediatric patient using endoscopic placement of a triventricular aqueductal stent. The patient had a complex neurosurgical history, which included over 15 surgeries for shunted hydrocephalus. This case highlights the unique approach used, and the authors discuss surgical nuances of the technique, as well as learning points.

LESSONS

Complex hydrocephalus can be difficult to manage because patients often have multiple catheters, loculated or trapped ventricles, and extensive surgical histories. Endoscopic placement of a triventricular stent can decrease shunt system complexity, restore normal cerebrospinal fluid pathway circulation across the cerebral aqueduct, and promote communication between the ventricles. The authors’ treatment modality resulted in the successful resolution of the trapped fourth ventricle and symptomatic improvement in hydrocephalus.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 19 (Nov 2023)

Open access

Awake resection of recurrent astroblastoma with intraoperative 5-ALA–induced fluorescence: illustrative case

Anthony Price, Sean O’Leary, Kseniia Malkova, Preston D’Souza, Christian Ogasawara, Michelle M Felicella, and Patrick J Karas

BACKGROUND

Astroblastoma is a rare neoplasm characterized as a circumscribed glial neoplasm most often arising in the frontoparietal cerebral hemispheres in older children.

OBSERVATIONS

We report an intriguing case of an astroblastoma recurrence 21 years after gross-total resection and radiation. A 32-year-old right-handed female presented to the emergency department for a generalized tonic-clonic seizure. She had a history of bipolar disorder, intractable migraines, and prior seizures linked to an astroblastoma previously resected three times. Magnetic resonance imaging on the current visit showed growth of the recurrent lesion to a 3.8-cm maximal diameter. Left-sided awake craniotomy was performed to remove the tumor while using speech mapping and 5-aminolevulinic acid (5-ALA). Targeted next-generation sequencing of the tumor revealed in-frame MN1::BEND2 fusion transcripts.

LESSONS

We found that 5-ALA can be used in astroblastoma patients to assist in gross-total resection, which is important for long-term survival. Our astroblastoma case demonstrated classic astroblastoma morphology, with typical perivascular astroblastic rosettes, and was brightly fluorescent after 5-ALA administration.

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