Rare Case of a 20p13 Duplication Trisomy With Craniostenosis.

Duplication 20p or partial trisomy 20 is a rare chromosomal anomaly characterized by duplication of the short arm of chromosome 20, with various clinical abnormalities. Despite complete trisomy 20, which usually leads to prenatal death, partial trisomy 20 can manifest with variable phenotypes, from mild to severe manifestations. Here, we present a rare case of an 8-year-old boy diagnosed with trisomy 20, epilepsy with focal seizures of genetic origin, craniosynostosis, type 1 diabetes, and autism spectrum disorder. Duplication 20p is a complex diagnostic and presents a therapeutic challenge due to its diverse clinical manifestations. To succeed in the intricacy of such a unique and challenging case, a comprehensive clinical and genetic assessment must be performed.

Multiple Intracranial Aneurysms Associated With Brain Arteriovenous Malformation: A Case Report and Treatment Strategies.

In the field of cerebrovascular neurosurgery, intracranial aneurysms (IAs) have been occasionally associated with brain arteriovenous malformations (BAVMs), indicating a more aggressive clinical course, and increased rates of hemorrhage and rehemorrhage. Treatment of flow-related IAs in BAVMs remains debatable, with considerations for preventive intervention versus concurrent BAVM treatment. Managing such situations might be challenging, especially in determining which of the IAs or BAVMs should be treated first, and which treatment strategy would be most appropriate for each situation. A precise identification of the rupture site is required, whether it is the AVM nidus or the IA, for choosing the best treatment plans. We present a case of a 29-year-old male patient diagnosed with several intracranial vascular conditions: a ruptured anterior communicating artery (ACoA) aneurysm and an unruptured ophthalmic artery aneurysm, associated with a frontal BAVM. Moreover, we discussed the possible scenarios regarding the association of these conditions, highlighting their manifestations and the most suitable therapeutic approach for each. Thus, our exploration of the challenges and considerations involved in treating these intricate neurovascular conditions underscores the need for a customized approach for each patient's situation.

Intracranial Solitary Fibrous Tumor/Hemangiopericytoma: A Series of 14 Cases and Review of the Literature.

Solitary fibrous tumor (SFT) is a rare type of tumor characterized by spindle-shaped cells originating from mesenchymal tissue. This case series presents a collection of 14 intracranial solitary fibrous tumors treated between 2014 and 2022 in our institute in Bucharest, Romania. Through a systematic investigation, key aspects spanning the preoperative, intraoperative, and postoperative phases of patient care were highlighted. Our study examines various factors including tumor location (which was very heterogeneous), size (median of 49 mm, ranging between 22 mm and 70 mm), surgical techniques employed, and recurrence rates. The data was analyzed using Python version 3.10 (Python Software Foundation, Wilmington, Delaware, United States). Gender disparities in SFT were noted, particularly the male-to-female ratio which was 5:9. The use of the Medical Research Council (MRC) Scale for Muscle Strength aided in evaluating severity and postoperative outcomes. GTR was achieved in nine out of 14 cases (64.28%), prolonging the period of recurrence-free survival.

Kissing Aneurysms of the Anterior Communicating Artery Treated With Surgical Clipping: A Case Report and Literature Review.

Intracranial "kissing" aneurysms are rare vascular conditions described as two anatomically adjacent aneurysms originating from either the same or different arteries, with their walls pressed together. Two-dimensional angiography was formerly considered the gold standard for diagnosis, with the three-dimensional rotational type now offering more insightful details about vascular discrepancies. The treatment of anterior communicating artery (AcoA) "kissing" aneurysms poses significant challenges, with surgical clipping proving difficult due to their deep midline location or the bilateral anterograde arterial supply. However, advancements in endovascular coil embolization, such as dual-volume reconstruction, can assist in diagnosis. This study presents the case of a 50-year-old patient who was diagnosed with "kissing" aneurysms of the AcoA. The patient underwent surgical clipping and showed no pathological follow-up findings. The surgical intervention often provides a more direct and effective approach. This case contributes to the body of knowledge surrounding the management of this complex disease.

Retrospective Analysis of Glioblastoma Outcomes.

This retrospective mono-center study focuses on 144 cases of glioblastoma treated over a time span of 12 years in our clinic in Romania. We offer critical insight into the dreadful aspect of this tumor by highlighting the principal characteristics such as localization, the genetic information of each case, progression-free survival (PFS), and overall survival (OS). A tenth of our patients underwent a second surgical procedure, providing a comparable OS to the other part of our study group, proving that surgical treatment as salvage therapy is a viable option. Also, our research reinforces the fact that utilizing the Karnofsky Performance Scale is a great predictor of patient outcomes in glioblastoma patients. Even though radiotherapy and chemotherapy have mild effects in the context of this oncological disease, our research shows that O6-methylguanine-DNA methyltransferase (MGMT) methylation status and epidermal growth factor receptor (EGFR) amplification have an important effect on OS. Moreover, the particularity of our study, that our patients did not start adjuvant therapy right after surgery, highlighted by a low OS compared to the international literature, sheds light on the fact that chemotherapy and radiotherapy must be started right after the surgical procedure, according to the Stupp protocol. To sum up, our research takes into consideration the factors that influence patient survival and outcome in the battle against glioblastoma.

Progressive Paraparesis and Spinal Glioblastoma in a Young Female.

Glioblastoma, a primary brain tumor known for its adverse prognosis and aggressive nature, presents a significant challenge when occurring in the spinal cord. We report a case of a 20-year-old female with no prior medical history who developed progressive paraparesis and urinary retention, symptoms indicative of an intramedullary glioblastoma in the spinal cord. This case study delves into the clinical presentation, diagnostic process, and therapeutic interventions, highlighting the complexities encountered during the patient's treatment course. Despite the typically poor prognosis associated with glioblastoma, with an average survival rate of approximately 15 months post-diagnosis, our patient's initial response to adjuvant chemotherapy and radiotherapy extended her survival to 34 months. However, tumor recurrence ultimately led to a decision against aggressive treatment, reflecting the challenges in managing this devastating condition. This case emphasizes the importance of a multidisciplinary approach in the care of spinal glioblastoma patients, ranging from neurosurgery, anesthesiology and intensive care, radiology, oncology, anatomic pathology and nuclear medicine, underscoring the complexity of the disease, while highlighting the urgent need for ongoing research and innovation in neuro-oncology to improve treatment outcomes. The use of modern treatment techniques, including the potential role of nanomaterials for drug delivery, suggests avenues for future research. This case report contributes to the scarce literature on spinal glioblastoma, advocating for detailed documentation of cases to enhance understanding and treatment strategies for this formidable disease.

Cerebral Aneurysm Characteristics and Surgical Outcomes: An In-Depth Analysis of 346 Cases Operated Using Microsurgical Clipping.

This comprehensive study analyzes 346 surgically treated intracranial aneurysms, emphasizing the importance of understanding risk factors and prevalent characteristics in patients. Intracranial aneurysms, primarily of the saccular or berry type, significantly contribute to nontraumatic subarachnoid hemorrhages and demonstrate a rising incidence due to advances in imaging techniques. The study highlights a gender discrepancy in aneurysm occurrence and a higher prevalence in individuals over 30 years old. The research delves into various aspects, including aneurysm localization, diameter, neck dimensions, and rupture status, with a focus on the anterior communicating artery and middle communicating artery as predominant locations. Significant findings include the prevalence of ruptured aneurysms and the impact of arterial hypertension, atherosclerosis, obesity, and diabetes on aneurysm epidemiology. The study also investigates the occurrence of vasospasm, a significant factor in delayed morbidity and mortality in aneurysmal subarachnoid hemorrhage. The utilization of the Glasgow Outcome Scale and other quantification scales aids in understanding the severity and postoperative outcomes of intracranial aneurysms. Challenges such as the incidence of reopenings and postoperative osteomyelitis are addressed, underlining the need for refined protocols and multidisciplinary approaches in treatment. The study's results contribute to the existing knowledge base on intracranial aneurysms, emphasizing the importance of ongoing research and tailored treatment strategies. The comprehensive nature of this analysis, covering preoperative, intraoperative, and postoperative factors, provides valuable insights into the complex interplay of risk factors and clinical outcomes in patients with intracranial aneurysms.

Extensive Intracranial Meningioma With Dehiscences: A Case Report.

This case report elucidates the clinical and surgical journey of a 62-year-old patient with a history of multiple comorbidities including a severe acute respiratory syndrome coronavirus 2 (SARS­CoV­2) infection, presenting with temporospatial disorientation, bradypsychia, and bradyphasia, without motor deficits, diagnosed with sarcomatous meningioma and skull lysis. Amidst the complexities of managing primary brain tumors, this report underscores the significance of thorough morphopathological examination, while considering patient demographics and tumor localization in assessing the nature of the neoplasm. It highlights meningiomas as predominantly benign yet stemming from monoclonal proliferation, with their occurrence influenced by genetic predispositions and environmental factors such as ionizing radiation exposure. The intricate case details multiple surgical interventions necessitated by complications such as wound dehiscence and cerebrospinal fluid leaks, managed successfully through a tailored neurosurgical approach and meticulous postoperative care. This narrative reinforces the pivotal role of interdisciplinary collaboration, with substantial contributions from radiology, anesthesiology, intensive care, cardiology, infectious disease, and rehabilitation medicine in achieving favorable outcomes. The discussion contextualizes the patient's condition within the broader neurosurgical literature, reflecting on the prognostic factors associated with giant meningiomas and the impact of factors like age and tumor location on resection outcomes. The case also delves into the efficacy of Gamma Knife radiosurgery in long-term tumor control, drawing on retrospective analyses. In conclusion, the case report advocates for a nuanced, individualized treatment, where the integration of multiple disciplines and responsive management of postoperative complications is critical to patient recovery. The successful resolution of this patient's condition exemplifies the quintessential nature of interdisciplinary collaboration and highlights the potential for optimizing neurosurgical protocols in the context of complex patient profiles.

Intraventricular Subependymoma With Obstructive Hydrocephalus: A Case Report and Literature Review.

Subependymomas are benign tumors of the ventricles that grow from the ventricular wall into the cerebrospinal fluid spaces within the brain, obstructing the flow of the cerebrospinal fluid and causing obstructive hydrocephalus. It is estimated that ependymomas represent between 0.2% and 0.7% of all intracranial tumors. They arise most frequently in the fourth ventricle (50-60%) and the lateral ventricles (30-40%). We present the case of a 50-year-old patient, previously diagnosed with an intraventricular process, admitted in our clinic. At neurological examination, the patient was cooperative, bradylalic, and bradypsychic, with right hemiparesis, postural and balance disorders, and occasionally sphincteric incontinence. MRI with contrast described a left intraventricular tumor, in the frontal horn of the left lateral ventricle with homogeneous appearance, with a maximum diameter of 50 mm and base of insertion at the adjacent ependyma of the foramen of Monro, which determined obstructive hydrocephalus. Total resection of the left intraventricular cerebral tumor was achieved. Histopathological analysis revealed a subependymoma. Postoperative recovery was slowly favorable, with significant neurological improvement. At neurological examination at three-month follow-up, the patient's right hemiparesis and unsystematized balance disorders improved. A contrast-enhanced CT scan was performed, highlighting left frontal sequelae hypodensity corresponding to the operated tumor, enlarged left lateral ventricle without active hydrocephalus, and no sign of tumor recurrence. At six-month follow-up, clinico-radiologic findings coincide with those from three-month follow-up. Subependymomas are slow-growing (grade 1) tumors and generally have a favorable prognosis. Unfortunately, due to their anatomical level, multiple complications can arise, caused from obstructive hydrocephalus complications, such as cognitive dysfunction and incontinence. Tumor resection should be complete, a successful operation being a challenge for every neurosurgeon.

Recurrent Meningothelial Meningioma With Multiple Extensions: A Complex Case Study.

This case report presents a comprehensive analysis of a 67-year-old patient diagnosed in 2017 with meningothelial meningioma, focusing on the challenges of managing such tumors and their neurological implications. Meningiomas, being the most common benign intracranial neoplasms, have a notable research gap regarding their association with seizures and motor deficits. This patient, who had a history of depressive disorder, persistent cephalalgia syndrome, and ataxic gait, initially presented with symptoms including ataxic gait, confusion, and headache. Imaging revealed a large, hyperdense right frontal meningioma with a significant mass effect. Following surgical resection, the patient experienced notable neurological improvement. However, in 2023, the patient re-presented with bradypsychia, bradykinesia, and memory disorders, indicating a recurrent meningioma. This case exemplifies the recurrence and complex management of meningiomas, particularly in elderly patients, and highlights the importance of individualized treatment strategies. Surgical resection remains the primary treatment approach, supplemented by radiotherapy in cases of recurrence or incomplete resection. The case underscores the need for advancements in therapeutic approaches to mitigate recurrence risks and enhance patient outcomes in meningioma management. This is especially pertinent given the tumor's predilection for older females and its varied neurological manifestations, such as ataxic gait and seizures.

Giant Extracranial Meningioma Associated With Hormonal Imbalances Due to Thyroidectomy: Case Report and Literature Review.

Meningiomas represent a prevalent class of primary brain tumors, with malignancies such as World Health Organization grade III meningiomas posing significant clinical challenges due to their aggressive nature and potential for recurrence. This case report showcases the clinical journey of a 67-year-old female patient presenting with a giant malignant meningioma post-thyroidectomy, who unfortunately succumbed to postoperative complications. The report offers a comprehensive analysis of the tumor's clinical presentation, including its substantial size, which qualifies it as a 'giant' meningioma, and explores the patient's endocrine dysfunction as a possible contributing factor to her neurological pathology. In the broader context of meningioma management, the report synthesizes data from multiple studies, underscoring the higher incidence of such malignancies in post-pubertal women and the complexity of treatment modalities. Surgical resection remains the cornerstone of treatment, especially when combined with adjuvant therapies. The report concludes with a discussion on the persistent gaps in knowledge regarding the pathogenesis of giant malignant meningiomas and the need for further research, particularly concerning the role of endocrine dysregulation in their development. This case underscores the imperative for multidisciplinary approaches and individualized treatment strategies in the management of malignant meningiomas, with an emphasis on the intricate interplay between endocrine factors and tumor progression.

Extracranial Meningioma En Plaque With Skull Invasion.

The study reflects on a 69-year-old female patient with a history of cardio-respiratory disorders who was diagnosed with meningioma en plaque. Her clinical management entailed surgical resection of the tumor, which was followed by a complex postoperative course, including cardiorespiratory arrest and respiratory failure. Histologically, extracranial meningiomas are categorized into five subtypes based on predominant cellular morphology, with the meningothelial type being prevalent in this case. The report also examines the significance of complete tumor resection, noting a lower recurrence rate with gross total resection. Additionally, it discusses the increased susceptibility of extracranial meningiomas with advancing age and a higher incidence in females. Data from various studies underscore the importance of a surgical approach and extent of resection in predicting recurrence risk. The case report concludes by highlighting the critical aspects of the pathology of meningiomas and the surgical strategy that ensured the patient's recovery. The findings from this case contribute to the broader understanding of extracranial meningiomas, their diagnosis, and management.

Immunohistochemical localization of caspase-3, caspase-9 and Bax in U87 glioblastoma xenografts.

Development of new therapies for glioblastoma requires animal models that mimic the biological characteristics of human brain tumors. On the other hand, potential antitumoral effects of a new therapeutic strategy are often established by evaluation of tumor cells apoptosis. Caspases are key mediators in the regulation and execution of apoptosis. Caspase-9 is activated during the intrinsic pathway downstream of mitochondria while caspase-3 is an effector caspase that initiates degradation of the cell in the final stages of apoptosis. Bax is a pro-apoptotic member of the Bcl-2 family that play key roles in the regulation of intrinsic apoptotic signaling. In the present study we investigated the immunohistochemical distribution of caspase 3, 9 and Bax in intracranial U87 glioblastoma xenograft. Immunohistochemistry showed that the glioblastoma xenografts contain cells positive for caspase-3, caspase-9, and Bax.