Search Results (25)

Background: Condylar hyperplasia (CH) leads to mandibular overgrowth with anatomical, aesthetic, and functional consequences, particularly affecting facial harmony. It is characterized by severe mandibular prognathism (MP) in bilateral cases. This study aims to propose a therapeutic algorithm for diagnosing and treating bilateral condylar hyperplasia (BCH) based on demographic, clinical, craniofacial growth, and clivus ratio uptake conditions. Methods: Ten patients with severe skeletal Class III by MP, whose alteration was clinically associated with BCH, were consecutively evaluated in a specialized dentofacial deformity center between the period of 2019 and 2024. A detailed protocol was followed to gather clinical history, assess anatomical features, evaluate malocclusion, and identify potential BCH. When suspicion arose, a nuclear medicine test measured condylar scintigraphy uptake. If the result was positive, patients underwent bilateral condylectomy, following one of three treatment protocols. Results: Severe PM, pronounced Class III with excessive negative overjet, elongated condyles of normal anatomy, absence of family history, and accelerated growth since preadolescence and adolescence were common characteristics in these patients. Regarding the treatment protocol chosen according to the characteristics of the patients, five cases followed treatment protocol A: condylectomy and surgical correction of the alteration in two surgical stages. Two cases followed protocol B: bilateral condylectomy and orthognathic surgery in the same surgical time, and three cases followed protocol C: condylectomy and later post-surgical orthopedics and/or orthodontics without a second surgical intervention. Histopathological results confirmed bilateral hyperplastic growth and stability in mandibular size, and occlusion was observed during follow-up. Conclusions: Specialists need to recognize the clinical signs of BCH and use scintigraphy tests to measure condylar metabolic activity when suspected. Early detection of BCH is crucial, as it influences treatment decisions and helps prevent relapses in orthodontic or surgical interventions aimed solely at correcting or compensating for Class III malocclusion caused by MP. Full article

This retrospective study assessed anatomical characteristics of cervicomedullary compression in children with achondroplasia. Twelve anatomical parameters were analyzed (foramen magnum diameter and area; myelon area; clivus length; tentorium and occipital angles; brainstem volume outside the posterior fossa; and posterior fossa, cerebellum, supratentorial ventricular system, intracranial cerebrospinal fluid, and fourth ventricle volumes) from sagittal and transversal T1- and T2-weighted magnetic resonance imaging (MRI) scans from 37 children with achondroplasia aged ≤ 4 years (median [range] 0.8 [0.1–3.6] years) and compared with scans from 37 children without achondroplasia (median age 1.5 [0–3.9] years). Mann–Whitney U testing was used for between-group comparisons. Foramen magnum diameter and area were significantly smaller in children with achondroplasia compared with the reference group (mean 10.0 vs. 16.1 mm [p < 0.001] and 109.0 vs. 160.8 mm² [p = 0.005], respectively). The tentorial angle was also steeper in children with achondroplasia (mean 47.6 vs. 38.1 degrees; p < 0.001), while the clivus was significantly shorter (mean 23.5 vs. 30.3 mm; p < 0.001). Significant differences were also observed in myelon area, occipital angle, fourth ventricle, intracranial cerebrospinal fluid and supratentorial ventricular volumes, and the volume of brainstem protruding beyond the posterior fossa (all p < 0.05). MRI analysis of brain structures may provide a standardized value to indicate decompression surgery in children with achondroplasia. Full article

Objectives: This analytical cross-sectional study evaluates diagnostic approaches for active condylar hyperplasia using bone SPECT techniques. Methods: it was compared the effectiveness of relative activity assessments between condyles and quantitative analysis using the condyle/clivus ratio. Results: This study’s findings reveal that the condyle/clivus ratio method significantly outperforms the relative uptake method, achieving a sensitivity of 90.1% (95% CI: 84.1–94) compared to 40.7% (95% CI: 33.5–48.2), and a specificity of 77.1% (95% CI: 67.4–85) versus 72.9% (95% CI: 62.9–81.5). The condyle/clivus ratio also showed a more favorable negative likelihood ratio of 0.13 compared to 0.82 for relative uptake, and a higher area under the curve (AUC) of 0.8360 versus 0.5679. Statistically significant differences were noted (p = 0.0001). The condyle/clivus ratio method effectively identifies affected condyles in unilateral and bilateral condylar hyperplasia cases. Conclusions: This study emphasizes the importance of incorporating comprehensive clinical evaluations and imaging modalities for assessing condylar growth activity, underscoring the need for tailored reference values in different populations to ensure reliable diagnostic interpretations. Full article

Introduction. Clival chordomas represent a rare but clinically significant subset of skull base tumors, characterized by a locally aggressive nature and a location in proximity to vital neurovascular structures. Surgical resection, often combined with adjuvant therapies, remains the cornerstone of clival chordoma treatment, and various approaches and techniques have evolved to maximize tumor removal while preserving neurological function. Recent advancements in skull base surgery, imaging, and adjuvant therapies have improved outcomes by reducing morbidity and thus enhancing long-term survival. Methods and Results. We have conducted a systematic review on PubMed/Medline following PRISMA guidelines regarding indications, the extent of resection (EOR), and complication rates. Then, we present three illustrative cases from our personal experience, which started 25 years ago with CVJ instrumentation procedures and 15 years ago with anterior decompressive transmucosal procedures performed with the aid of an operative microscope, an endoscope, and neuroradiological monitoring. Conclusions. Traditionally, the transoral approach (TOA) is the most frequently used corridor for accessing the lower clivus and the anterior craniovertebral junction (CVJ), without the need to mobilize or retract neural structures; however, it is associated with a high rate of complications. The endonasal approach (EEA) provides access to the anterior CVJ as well as to the lower, middle, and superior clivus, decreasing airway and swallowing morbidity, preserving palatal function, decreasing postoperative pain, and reducing the incidence of tracheostomy. The submandibular retropharyngeal approach (SRA) allows unique access to certain cervical chordomas, which is better suited when the lesion is located below the clivus and in the midline. Full article

Objective: to identify advanced or “so-called inoperable” cases of tympanojugular paragangliomas (PGLs) and analyze how each case is surgically managed and followed afterward. Study Design: a retrospective case series study. Methods: Out of 262 type C and D TJPs and more than 10 cases of advanced or so-called inoperable cases, files of 6 patients with a diagnosis of advanced tympanojugular PGLs who were referred to an otology and skull-base center between 1996 and 2021 were reviewed to analyze management and surgical outcomes. The criteria for choosing these cases involve having one or more of the following features: (1) a large-sized tumor; (2) a single ipsilateral internal carotid artery (ICA); (3) involvement of the vertebral artery; (4) a considerable involvement of the ICA; (5) an extension to the clivus, foramen magnum, and cavernous sinus; (6) large intradural involvement (IDE); and (7) bilateral or multiple PGLs. Results: The age range at presentation was 25–43 years old, with a mean of 40.5 years: two females and four males. The presenting symptoms were glossal atrophy, hearing loss, pulsatile tinnitus, dysphonia, shoulder weakness, and diplopia. The modified Infratemporal Fossa Approach (ITFA) with a transcondylar–transtubercular extension is the principal approach in most cases, with additional approaches being used accordingly. Conclusions: The contemporary introduction of carotid artery stenting with the direct and indirect embolization of PGLs has made it possible to operate on many cases, which was otherwise considered impossible to treat surgically. Generally, the key is to stage the removal of the tumor in multiple stages during the management of complex PGLs to decrease surgical morbidities. A crucial aspect is to centralize the treatment of PGLs in referral centers with experienced surgeons who are trained to plan the stages and manage possible surgical complications. Full article

Background: Accessing the craniovertebral junction poses unique challenges due to its anatomical complexity and proximity to critical structures, such as the cord–brainstem junction, great vessels of the neck, cranial nerves, oropharynx, and rhinopharynx. Among the approaches that have been developed over the years, the submandibular retropharyngeal approach offers good antero-lateral access without the need of transgressing mucosal layers. In its traditional form, however, this approach involves multiple sequential steps and requires intricate dissection, extensive retraction, and meticulous maneuvering, which can increase operative time and produce approach-related morbidity. Methods: With this paper, we propose a simplified technique for a submandibular retropharyngeal approach involving only three surgical steps. The advantages and limitations of this technique are illustrated through three surgical cases of neoplastic and degenerative craniovertebral junction pathologies. Results: In two out of the three cases, our technique allowed for a wide exposure of the lesions that could be resected totally or sub-totally with good outcome. In one case with involvement of the clivus and the occipital condyle, the exposure was inadequate; a biopsy was obtained, and the lesion was subsequently resected via and endoscopic transmucosal approach. Conclusions: Our technique represents a significant simplification of the traditional submandibular retropharyngeal approach; with appropriate indication, it permits a fast, safe, and adequate exposure of craniovertebral junction pathologies. Full article

Background: The aim of Part II of this two-part study is to describe and analyze the association of various aspects and measurements related to the morphometry of the skull and craniocervical region to CM/SM status of Pomeranians, by means of computed tomography (CT) and magnetic resonance imaging (MRI). Methods: Prospectively, Pomeranians were included that underwent both CT and MRI studies of the head and cervicothoracic vertebral column. For those cases where qualitative classifications differed between observers, the experienced observer re-evaluated the studies and decided on a final classification that was used for further analysis. For quantitative measurements, the means of the observers’ measurements were used for analysis. Results: Among statistically significant differences in measurements, we found that dogs with SM had a significantly shorter clivus length based on both MRI (p = 0.01) and CT measurements (p = 0.01), and a significantly smaller caudal cranial fossa area based on both MRI (p = 0.02) and CT measurements (p = 0.02). Conclusions: Significant morphometrical differences were identified between dogs with or without CM/SM. The findings in this study add to those already described in other breeds and provide further insight into factors that may play a role in the pathogenesis of CM/SM in Pomeranians. Full article

Chordomas are very rare malignant neoplasms of the bone occurring almost exclusively along the spine. As the tumours are thought to arise from notochordal remnants, the vast majority of chordomas express the TBXT gene, resulting in detectable nuclear amounts of its gene product brachyury. This T-Box transcription factor is commonly recognised as being essential in chordoma cells, and limiting TBXT expression is thought to be the key factor in controlling this tumour. Although the tumour is rare, distinct molecular differences and vulnerabilities have been described with regard to its location and the progression status of the disease, rendering it mandatory for novel cell lines to reflect all relevant chordoma subtypes. Here, we describe a novel chordoma cell line arising from the pleural effusion of a disseminated, poorly differentiated chordoma. This cell line, U-CH22, represents a highly aggressive terminal chordoma and, therefore, fills a relevant gap within the panel of available cell culture models for this orphan disease. CDK7 and CDK9 inhibition was lately identified as being effective in reducing viability in four chordoma cell lines, most likely due to a reduction in brachyury levels. In this study, we determined the capability of the CDK7 inhibitor THZ1 and the CDK1/2/5/9 inhibitor dinaciclib to reduce TBXT expression at mRNA and protein levels in a broad range of nine cell lines that are models of primary, recurrent, and metastasised chordoma of the clivus and the sacrum. Full article

Background: Chordomas pose a challenge in treatment due to their local invasiveness, high recurrence, and potential lethality. Despite being slow-growing and rarely metastasizing, these tumors often resist conventional chemotherapies (CTs) and radiotherapies (RTs), making surgical resection a crucial intervention. However, achieving radical resection for chordomas is seldom possible, presenting therapeutic challenges. The accurate diagnosis of these tumors is vital for their distinct prognoses, yet differentiation is hindered by overlapping radiological and histopathological features. Fortunately, recent molecular and genetic studies, including extracranial location analysis, offer valuable insights for precise diagnosis. This literature review delves into the genetic aberrations and molecular biology of chordomas, aiming to provide an overview of more successful therapeutic strategies. Methods: A systematic search was conducted across major medical databases (PubMed, Embase, and Cochrane Library) up to 28 January 2023. The search strategy utilized relevant Medical Subject Heading (MeSH) terms and keywords related to “chordomas”, “molecular biology”, “gene aberrations”, and “target therapies”. The studies included in this review consist of preclinical cell studies, case reports, case series, randomized controlled trials, non-randomized controlled trials, and cohort studies reporting on genetic and biological aberrations in chordomas. Results: Of the initial 297 articles identified, 40 articles were included in the article. Two tables highlighted clinical studies and ongoing clinical trials, encompassing 18 and 22 studies, respectively. The clinical studies involved 185 patients diagnosed with chordomas. The tumor sites were predominantly sacral (n = 8, 44.4%), followed by clivus (n = 7, 38.9%) and lumbar spine (n = 3, 16.7%). Primary treatments preceding targeted therapies included surgery (n = 10, 55.6%), RT (n = 9, 50.0%), and systemic treatments (n = 7, 38.9%). Various agents targeting specific molecular pathways were analyzed in the studies, such as imatinib (a tyrosine kinase inhibitor), erlotinib, and bevacizumab, which target EGFR/VEGFR. Common adverse events included fatigue (47.1%), skin reactions (32.4%), hypertension (23.5%), diarrhea (17.6%), and thyroid abnormalities (5.9%). Clinical outcomes were systematically assessed based on progression-free survival (PFS), overall survival (OS), and tumor response evaluated using RECIST or CHOI criteria. Notably, stable disease (SD) occurred in 58.1% of cases, and partial responses (PRs) were observed in 28.2% of patients, while 13.7% experienced disease progression (PD) despite targeted therapy. Among the 22 clinical trials included in the analysis, Phase II trials were the most prevalent (40.9%), followed by I-II trials (31.8%) and Phase I trials (27.3%). PD-1 inhibitors were the most frequently utilized, appearing in 50% of the trials, followed by PD-L1 inhibitors (36.4%), CTLA-4 inhibitors (22.7%), and mTOR inhibitors (13.6%). Conclusions: This systematic review provides an extensive overview of the state of targeted therapy for chordomas, highlighting their potential to stabilize the illness and enhance clinical outcomes. Full article

Background/Objectives: Clivus metastases from distant neoplasms are uncommon occurrences both in clinical practice and the neurosurgical literature. Surgical management is debated, particularly about the role of surgery and the preferable approach. The aim of this study was to report our surgical experience and review the concerning literature. Methods: Our institutional registry was retrospectively reviewed, and patients who underwent surgical treatment for clival metastasis from 1998 to 2023 were included. A PRISMA systematic review of the literature was performed. Results: Four patients were enrolled, and all of them underwent an endoscopic endonasal approach (EEA). Three presented with cranial nerve (CN) VI palsy. The aim of surgery was biopsy in all cases. No complications were reported. Mean overall survival (OS) was 6 ± 1 months. The systematic review retrieved 27 papers reporting 39 patients who underwent the surgical treatment of clivus metastases. Most of them (79.5%) presented with CN palsies, and EEA was the preferred approach in 92.3% of the cases, to perform a biopsy in most patients (59%). Two hemorrhagic complications (5.1%) were reported, and the mean OS was 9.4 ± 5.6 months. Conclusions: Clival metastases are uncommonly observed, in most cases, during advanced stages of oncological disease. The aim of surgery should be the confirmation of diagnosis and symptomatic relief, balancing the risk–benefit ratio in a multidisciplinary context. EEA is the approach of choice, and it should be carried out in experienced tertiary skull base centers. Full article

Craniocervical tumors lead to cervical pain, instability, and neurological symptoms, reducing the quality of life. Effective surgical intervention at the craniocervical junction (CCJ) is critical and complex, involving comprehensive approaches and advanced reconstructive techniques. This study, conducted at Mexico City’s National Institute of Cancerology, focused on three surgical cases that occurred in 2023 involving tumors at the CCJ: two chordomas and one prostate adenocarcinoma. We utilized a specialized technique: clivus-cervical stabilization reinforced with a polymethylmethacrylate (PMMA)-filled cervical mesh. Postoperatively, patients showed marked neurological recovery and reduced cervical pain, with enhanced Karnofsky and Eastern Cooperative Oncology Group (ECOG) scores indicating improved life quality. The surgical technique provided excellent exposure and effective tumor resection, utilizing PMMA-filled cervical mesh for stability. Tumoral lesions at the CCJ causing instability can be surgically treated through a transoral approach. This type of approach should be performed with precise indications to avoid complications associated with the procedure. Full article

Advances in technology, instrumentation, and reconstruction have paved the way for extended endoscopic approaches to skull base tumors. In the sagittal plane, the endonasal approach may safely access pathologies from the frontal sinus to the craniocervical junction in the sagittal plane, the petrous apex in the coronal plane, and extend posteriorly to the clivus and posterior cranial fossa. This review article describes these modular extended endoscopic approaches, along with crucial anatomic considerations, illustrative cases, and practical operative pearls. Full article

To identify the characteristics of feeding arteries in skull base meningioma including location and prevalence, we evaluated the distributions and types of feeding arteries in skull base meningioma by cerebral angiography and assessed relationships to tumor attachment. We enrolled patients with skull base meningioma who underwent MRI and cerebral digital subtraction angiography (DSA), from September 2015 to October 2022. Subjects comprised 115 patients (32 males, 83 females; mean age, 52.7) with 117 meningiomas, showing tumor attachments around the “cavernous sinus to the upper part of the clivus” (Area 1), “lower part of the clivus to foramen magnum” (Area 2), and “tentorium around the petrous bone” (Area 3). Frequent arteries, such as the dorsal meningeal artery (DMA), the ascending pharyngeal artery (APA), the tentorial artery (TA), and the petrosal branch (PB) of the middle meningeal artery (MMA) were analyzed in terms of their associations with tumor attachment to Areas 1–3. Meningiomas with the DMA as a feeding artery correlated with tumor attachment to Area 1 (p < 0.001). Meningiomas with the APA correlated with tumor attachment to Area 2 (p < 0.001). Meningiomas with the TA correlated with tumor attachment to Area 3 (p < 0.001). The PB correlated with Area 3 (p < 0.05). Our study founded that visualization of these arteries correlated well with specific areas. These arteries were also the main feeders in each type of skull base meningioma. Full article

Clival chordomas are rare but aggressive skull base tumors that pose significant treatment challenges and portend dismal prognosis. The aim of this study was to highlight the advantages and limitations of available treatments, to furnish prognostic indicators, and to shed light on novel therapeutic strategies. We conducted a retrospective study of clival chordomas that were surgically treated at our institution from 2003 to 2022; for comparison purposes, we provided a systematic review of published surgical series and, finally, we reviewed the most recent advancements in molecular research. A total of 42 patients underwent 85 surgeries; median follow-up was 15.8 years, overall survival rate was 49.9% at 10 years; meanwhile, progression-free survival was 26.6% at 10 years. A significantly improved survival was observed in younger patients (<50 years), in tumors with Ki67 ≤ 5% and when adjuvant radiotherapy was performed. To conclude, clival chordomas are aggressive tumors in which surgery and radiotherapy play a fundamental role while molecular targeted drugs still have an ancillary position. Recognizing risk factors for recurrence and performing a molecular characterization of more aggressive lesions may be the key to future effective treatment. Full article

The skull base provides a platform for supporting the brain while serving as a conduit for major neurovascular structures. In addition to malignant lesions originating in the skull base, there are many benign entities and developmental variants that may simulate disease. Therefore, a basic understanding of the relevant embryology is essential. Lesions centered in the skull base can extend to the adjacent intracranial and extracranial compartments; conversely, the skull base can be secondarily involved by primary extracranial and intracranial disease. CT and MRI are the mainstay imaging methods and are complementary in the evaluation of skull base lesions. Advances in cross-sectional imaging have been crucial in the management of patients with skull base pathology, as this represents a complex anatomical area that is hidden from direct clinical exam. Furthermore, the clinician must rely on imaging studies for therapy planning and to monitor treatment response. It is crucial to have a thorough understanding of skull base anatomy and its various pathologies, as well as to recognize the appearance of treatment-related changes. In this review, we aim to describe skull base tumors and tumor-like lesions in an anatomical compartmental approach and present imaging methods that aid in diagnosis, management, and follow-up. Full article