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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

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

Intraoperative intraarterial indocyanine green video-angiography for disconnection of a perimedullary arteriovenous fistula: illustrative case

Youngkyung Jung, Antti Lindgren, Syed Uzair Ahmed, Ivan Radovanovic, Timo Krings, and Hugo Andrade-Barazarte

BACKGROUND

Intraarterial (IA) indocyanine green (ICG) angiography is an intraoperative imaging technique offering special and temporal characterization of vascular lesions with very fast dye clearance. The authors’ aim is to demonstrate the use of IA ICG angiography to aid in the surgical treatment of a perimedullary thoracic arteriovenous fistula (AVF) in a hybrid operating room (OR).

OBSERVATIONS

A 31-year-old woman with a known history of spinal AVF presented with 6 weeks of lower-extremity weakness, gait imbalance, and bowel/bladder dysfunction. Magnetic resonance imaging revealed an extensive series of flow voids across the thoracic spine, most notably at T11–12. After partial embolization, she was taken for surgical disconnection in a hybrid OR. Intraoperative spinal digital subtraction angiography was performed to identify feeding vessels. When the target arteries were catheterized, 0.05 mg of ICG in 2 mL of saline was injected, and the ICG flow in each artery was recorded using the microscope. With an improved surgical understanding of the contributing feeding arteries, the authors achieved complete in situ disconnection of the AVF.

LESSONS

IA ICG angiography can be used in hybrid OR settings to illustrate the vascular anatomy of multifeeder perimedullary AVFs and confirm its postoperative disconnection with a fast dye clearance.

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

Open access

Cervical corpectomy in a pediatric patient with chondrodysplasia punctata and C5 dysplasia with spinal cord compression: illustrative case

Nirali P Patel, Mark W Youngblood, Melissa A LoPresti, and Tord D Alden

BACKGROUND

Chondrodysplasia punctata (CDP) describes skeletal dysplasia secondary to a variety of genetic underpinnings characterized by cartilaginous stippling from abnormal calcium deposition during endochondral bone formation. Approximately 20%–38% of patients with CDP have cervical spine abnormalities, resulting in stenosis and cord compression. However, approaches to management differ among patients.

OBSERVATIONS

The authors present an 18-year-old male with a known history of CDP and cervical kyphosis with worsening paresthesias and increased spasticity. Imaging confirmed dysplastic C4 and C5 vertebra with focal kyphosis, bony retropulsion, spinal cord compression, and myelomalacia. To treat the stenosis and deformity, the patient underwent C4 and C5 vertebrectomies with C3 to C6 anterior fusion with resolution of symptoms.

LESSONS

Despite many CDP patients having cervical deformities with spinal cord compression and associated neurological symptoms, there is a paucity of data on surgical management and outcomes. There are only scattered reports, and most authors recommend initial conservative management because of the high risk of operative morbidity and mortality secondary to comorbidities. When surgery is performed, long-term follow-up is recommended because of the high rates of progression of deformity, requiring subsequent operations. The authors hope that their experience adds to the literature describing the surgical management of cervical deformities in these patients.

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

Open access

Preoperative examination and intraoperative cerebrospinal fluid leakage test for minimally invasive surgery of spinal extradural arachnoid cysts: illustrative case

Yoshihiro Sunada, Kenji Yagi, Yoshifumi Tao, Hirotake Nishimura, and Tomohito Hishikawa

BACKGROUND

Spinal extradural arachnoid cysts (SEACs) are rare and can cause spinal dysfunction. Total cyst removal and duraplasty via multiple laminectomies are commonly performed. However, to avoid postoperative spinal deformity and axial pain, a minimally invasive surgery via selective laminectomy may be optimal. Therefore, preoperative detection of the dural fistula site is required.

OBSERVATIONS

A 25-year-old male presented with a 2-month history of progressive gait disturbance and back pain. Conventional magnetic resonance imaging (MRI) revealed SEACs at the T9 to L2 level but did not reveal the dural fistula. Further examinations were performed using sagittal time-spatial labeling inversion pulse MRI and cone-beam computed tomography myelography with a spinal intrathecal catheter, which indicated a dural fistula on the left side at the T12 level. On the basis of these results, dural repair was performed via selective laminectomy. Furthermore, an intraoperative cerebrospinal fluid leakage test by intrathecally injecting saline via a spinal catheter confirmed complete closure of the dural fistula, with no other fistulas.

LESSONS

These comprehensive pre and intraoperative examinations may be useful for minimally invasive and selective surgeries in patients with SEACs.

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

Blood pressure cuff–induced radial nerve palsy following minimally invasive lateral microdiscectomy: illustrative case

Ziad Rifi, Jasmine A Thum, Margaret S Sten, Timothy J Florence, and Michael J Dorsi

BACKGROUND

The authors describe a rare case of transient postoperative wrist and finger drop following a prone position minimally invasive surgery (MIS) lateral microdiscectomy.

OBSERVATIONS

Hand and wrist drop is an unusual complication following spine surgery, especially in prone positioning. The authors’ multidisciplinary team assessed a patient with this complication following MIS lateral microdiscectomy. The broad differential diagnosis included radial nerve palsy, C7 radiculopathy, stroke, and spinal cord injury. Given the patient’s supinator weakness, intact pronation and wrist flexion, and transient recovery within 4 weeks, the most likely diagnosis was radial nerve neuropraxia secondary to ischemic compression. After careful consideration of the operative environment and anatomical constraints, the patient’s blood pressure cuff was found to be the most probable source of compression.

LESSONS

Blood pressure cuff–induced peripheral nerve injury may be a source of postoperative radial nerve neuropraxia in patients undergoing spine surgery. Careful considerations must be given to the blood pressure cuff location, which should not be placed at the distal end of the humerus due to higher susceptibility of peripheral nerve compression. Spine surgeons should be aware of and appropriately localize postoperative deficits along the neuroaxis, including central versus proximal or distal peripheral injuries, in order to guide appropriate postoperative management.

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

Open access

Cervical spinal cord compression from subdural hematoma caused by traumatic nerve root avulsion: illustrative case

Alexander T Yahanda, Michelle R Connor, Rupen Desai, David A Giles, Vivek P Gupta, Wilson Z Ray, and Magalie Cadieux

BACKGROUND

Posttraumatic intradural hematomas of the cervical spine are rare findings that may yield significant neurological deficits if they compress the spinal cord. These compressive hematomas require prompt surgical evacuation. In certain instances, intradural hematomas may form from avulsion of cervical nerve roots.

OBSERVATIONS

The authors present the case of a 29-year-old male who presented with right upper-extremity weakness in the setting of polytrauma after a motor vehicle accident. He had no cervical fractures but subsequently developed right lower-extremity weakness. Magnetic resonance imaging (MRI) demonstrated a compressive hematoma of the cervical spine that was initially read as an epidural hematoma. However, intraoperatively, it was found to be a subdural hematoma, eccentric to the right, stemming from an avulsion of the right C6 nerve root.

LESSONS

Posttraumatic cervical subdural hematomas require rapid surgical evacuation if neurological deficits are present. The source of the hematoma may be an avulsed nerve root, and the associated deficits may be unilateral if the hematoma is eccentric to one side. Surgeons should be prepared for the possibility of an intradural hematoma even in instances in which MRI appears consistent with an epidural hematoma.

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

Symptomatic spinal arachnoid cyst with spastic diplegia secondary to cerebral palsy: illustrative case

Andrew Guillotte, Abdul-Rahman Alkiswani, Kathryn A Keeler, and Michael D Partington

BACKGROUND

Selective dorsal rhizotomy (SDR) can improve the spastic gait of carefully selected patients with cerebral palsy. Spinal arachnoid cysts are a rare pathology that can also cause spastic gait secondary to spinal cord compression.

OBSERVATIONS

The authors present an interesting case of a child with cerebral palsy and spastic diplegia. He was evaluated by a multidisciplinary team and determined to be a good candidate for SDR. Preoperative evaluation included magnetic resonance imaging (MRI) of the spine, which identified an arachnoid cyst causing spinal cord compression. The cyst was surgically fenestrated, which provided some gait improvement. After recovering from cyst fenestration surgery, the patient underwent SDR providing further gait improvement.

LESSONS

SDR can be beneficial for some patients with spastic diplegia. Most guidelines do not include spinal MRI in the preoperative evaluation for SDR. However, spinal MRI can be beneficial for surgical planning by localizing the level of the conus. It may also identify additional spinal pathology that is contributing to the patient’s spasticity. In rare cases, such as this one, patients may benefit from staged surgery to address structural causes of spastic gait prior to proceeding with SDR.

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