MN1 altered astroblastoma with APC and LRP1B gene mutations: a unique variant in the cervical spine of a pediatric patient.

PURPOSE: Astroblastomas (AB) are high-grade neoplasms which typically occur within the cerebral hemisphere. However, given the rarity of this neoplasm and the number of variants, the relevance of this molecular makeup is unknown. We sought to describe the clinical presentation, treatment, and pathological analysis of a novel MN1 (meningioma 1) cervical spinal cord astroblastoma variant presenting in a pediatric patient. METHODS: A retrospective review of electronic medical records was performed with an emphasis on neuroimaging, perioperative course, and pathological analysis. RESULTS: An 11-month-old male with no significant history presented with two weeks of neck stiffness and cervicalgia. Neurologically, the patient was intact without signs of infection or trauma. Cervical CT was unremarkable. A subsequent MRI demonstrated a heterogeneously enhancing intramedullary lesion extending from the craniocervical junction to T4. The patient was treated with perioperative steroids and underwent C1-C3 laminectomies and C4-T4 laminotomies for tumor resection. Upon completion of the durotomy, an exophytic gray-red tumor was appreciated within the epidural space and gross total resection was achieved (no change on intraoperative neurophysiological monitoring) and confirmed on post-operative imaging. Immunohistochemical analysis was consistent with an astroblastoma with atypical diffuse positivity of CD56, CD99, and nuclear OLIG2. Molecular analysis revealed not only MN1 alterations but also changes in genes encoding APC and LRP1B. Both alterations were not previously documented to be associated with an astroblastoma. CONCLUSION: Our case represents the first report of an infant with an MN1 astroblastoma with APC and LRP1B gene alterations in the cervical spine. Gross total resection paired with a detailed histopathologic analysis is vital for optimizing adjuvant treatment.

Systematic Review and Meta-Analysis of Responsive Neurostimulation in Epilepsy.

BACKGROUND: Neuromodulatory implants provide promising alternatives for patients with drug-resistant epilepsy (DRE) in whom resective or ablative surgery is not an option. Responsive neurostimulation (RNS) operates a unique "closed-loop" system of electrocorticography-triggered stimulation for seizure control. A comprehensive review of the current literature would be valuable to guide clinical decision-making regarding RNS. METHODS: Following Preferred Reporting Items for Systematic Reviews and Meta-Analyses protocols, a systematic PubMed literature review was performed to identify appropriate studies involving patients undergoing RNS for DRE. Full texts of included studies were analyzed and extracted data regarding demographics, seizure reduction rate, responder rate (defined as patients with >50% seizure reduction), and complications were compiled for comprehensive statistical analysis. RESULTS: A total of 313 studies were screened, and 17 studies were included in the final review, representative of 541 patients. Mean seizure reduction rate was 68% (95% confidence interval 61%-76%), and the mean responder rate was 68% (95% confidence interval 60%-75%). Complications occurred in 102 of 541 patients, for a complication rate of 18.9%. A strong publication bias toward greater seizure reduction rate and increased responder rate was demonstrated among included literature. CONCLUSIONS: A meta-analysis of recent RNS for DRE literature demonstrates seizure reduction and responder rates comparable with other neuromodulatory implants for epilepsy, demonstrating both the value of this intervention and the need for further research to delineate the optimal patient populations. This analysis also demonstrates a strong publication bias toward positive primary outcomes, highlighting the limitations of current literature. Currently, RNS data are optimistic for the treatment of DRE but should be interpreted cautiously.

Cerebral metastases of malignant mesothelioma.

Malignant pleural mesothelioma represents a rare etiology of lung cancer metastasis to the brain. Neurologically symptomatic presentations are extremely rare as these metastatic lesions are detected in the late stages of the disease. Despite many highly heterogenous treatment techniques reported in the literature, overall survival is poor. A 72-year-old male with a history of mesothelioma presented with recurrent episodes of altered mental status, confusion and expressive aphasia. Imaging indicated a large hemorrhagic, enhancing lesion in the anterior left frontal lobe resulting in midline shift of 6 mm. He underwent a left frontal craniotomy for resection, after which he had complete resolution of symptoms. The resected mass was metastatic high-grade malignant mesothelioma. On a 1-month follow-up, new lesions in the bilateral frontal lobes were discovered, and despite undergoing adjuvant stereotactic radiosurgery, the right one grew significantly, causing notable mass effect. The patient successfully underwent a right craniotomy for resection.

A Rare Third Ventricular Dermoid Cyst in an Adult With Imaging Characteristics Consistent With a Colloid Cyst.

A 64-year-old male presented with spontaneous intracerebral hemorrhage and obstructive hydrocephalus without evidence of a third ventricular mass in 2019. The patient was lost to follow-up and re-admitted one year later for hydrocephalus secondary to a third ventricular mass. Imaging characteristics were consistent with a colloid cyst, which was the presumptive diagnosis. A transcallosal transchoroidal approach was utilized for cyst resection. The cyst wall was carefully incised, releasing flakey, partially solid contents which were grossly inconsistent with a colloid cyst. Due to the concern of iatrogenic cyst rupture in the setting of unknown diagnosis, the patient was placed on steroids post-operatively. Surgical specimens sent at the time of surgery were consistent with dermoid cyst. We present the first reported case of a third ventricular dermoid cyst in an adult initially misdiagnosed as a colloid cyst based on imaging characteristics.

Peripheral subcutaneous field stimulation for the treatment of spinal cord injury at-level pain: case report, literature review, and 5-year follow-up.

Spinal cord injury (SCI) frequently engenders chronic pain which may be classified as occurring above, at, or below the level of injury. Since patients with SCI may have a complex combination of nociceptive and neuropathic pain, pharmacological interventions often fail. Peripheral subcutaneous field stimulation (PSFS) is a novel neuromodulation surgery for pain in which subcutaneous electrodes designed for spinal cord stimulation are placed subcutaneously in a region of pain. We report the case of a 26-year-old man who was an unrestrained driver in a motor vehicle accident and suffered a complete ASIA A spinal cord injury with paraplegia due to a T4 three-column burst fracture. He underwent successful surgical fixation of the fracture (7/27/12) and developed severe at-level SCI-associated pain which failed all conservative measures. After a successful trial, two octrode leads (Abbott Medical, Plano, TX, USA) were placed for PSFS under general anesthesia and were connected to a right flank rechargeable pulse generator (11/6/13). At 60 months postoperative, the patient continues to use the peripheral field stimulation system on a daily basis and reports near complete relief of his at-level spinal cord injury pain. He noted instantaneous relief of his pain once ideal stimulation programming was achieved and has tolerated complete cessation of all narcotic use. His current programming settings are: Frequency of 50 Hz (Hz), Pulse Width of 350 µs (µsec), Amplitude of 0.00 miliamps (mA), Comf of 7.70 mA, and Perc of 4.50 mA. Chronic pain is a challenging and expensive sequela to manage in SCI patients and newer therapies are needed. Our case suggests that SCI at-level pain may respond durably to PSFS and provides the longest published follow-up on a case of PSFS. Peripheral subcutaneous field stimulation remains an investigational treatment for chronic pain syndrome and larger, long-term follow up studies are needed for the FDA and payers to approve this modality.

Posterior Communicating Artery Giving Rise to Shared-Origin Anterior Choroidal Artery: Case Illustration.

BACKGROUND: The origin point of the anterior choroidal artery (AChA) is variable, typically arising from the supraclinoid internal carotid artery (ICA) distal to the posterior communicating artery (PComA) on either the posterolateral or posterior aspect of the ICA. Variations of AChA origin have important clinical implications, and rare origins reported previously include the ICA bifurcation and middle cerebral artery. We provide illustrations of a case of a shared-origin PComA and AChA. CASE DESCRIPTION: A young girl presented with intracranial hemorrhage and underwent angiography to evaluate for an underlying cause. Ultimately, 3-dimensional rotational angiography incidentally demonstrated a common origin of the AChA with the PComA. CONCLUSIONS: A rare case of a shared-origin AChA and PComA is reported for angiographic illustration. The radiologic findings, embryology behind the development of the AChA, and neurosurgical and neurovascular relevance of this variant are discussed. The importance of recognizing the origin of the AChA is emphasized.

A Pediatric Tumor Found Frequently in the Adult Population: A Case of Anaplastic Astroblastoma in an Elderly Patient and Review of the Literature.

Astroblastomas are rare, potentially curable primary brain tumors which can be difficult to diagnose. We present the case of astroblastoma in a 73-year-old male, an atypical age for this tumor, more classically found in pediatric and young adult populations. Through our case and review of the literature, we note that this tumor is frequently reported in adult populations and the presentation of this tumor in the elderly is well described. This tumor is an important consideration in the differential diagnosis when managing both pediatric and adult patients of any age who present with the imaging findings characteristic of this rare tumor.

Metastatic spread of systemic neoplasms to central nervous system tumors: review of the literature and case presentation of esophageal carcinoma metastatic to meningioma.

Metastatic spread of a systemic neoplasm to a central nervous system malignancy is a rare but well-documented phenomenon. Over 100 case reports of tumor-to-tumor spread involving the central nervous system have been described since the first report in 1930. Overwhelmingly, intracranial meningioma represents the most common recipient tumor, while breast and lung are the first and second most common donor malignancies, respectively. The propensity for meningiomas to harbor metastatic lesions has been attributed to cell-to-cell adhesion molecules, favorable metabolic environment as well as hormonal and mechanical factors. We distinguish the concepts of true "tumor-to-tumor metastasis" and "tumor collision" and discuss potential non-invasive diagnostic modalities that may aid in preoperatively identifying intracranial lesions harboring distal metastasis. We present the first incidence, to our knowledge, of metastatic esophageal carcinoma spread to intracranial meningioma.
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Direct visualization of microtubules using a genetic tool to analyse radial progenitor-astrocyte continuum in brain.

Microtubule cytoskeletal dynamics of cortical progenitors and astroglial cells have critical roles in the emergence of normal functional organization of cerebral cortex and in disease processes such as tumorigenesis. However, tools to efficiently visualize these events are lacking. Here we describe a mouse genetic model to efficiently visualize and analyse radial progenitors, their astroglial progeny, and the microtubule cytoskeleton of these cells in the developing and adult brain. Using this tool, we demonstrate altered microtubule organization and capture dynamics in adenomatous polyposis coli-deficient radial progenitors. Further, using multiphoton microscopy, we show the utility of this tool in real-time imaging of astrocytes in living mouse brain and the short-term stable nature of astrocytes in cerebral cortex. Thus, this model will help explore the dynamics of radial progenitor/astrocyte development or dysfunction and the influence of microtubule functions during these events.