Journal of Neurological Surgery Reports最新文献

Introduction: Fibrous dysplasia of the craniofacial bones, or craniofacial dysplasia (CFD), involves the replacement of normal bone with fibrous osseous tissue, resulting in asymmetry and distortion of the overlying soft tissue and irregular bone deposition. Treatment primarily involves surgical resection, and achieving symmetry by matching the contralateral unaffected side is crucial. However, surgical correction is challenging due to the lack of visualization of the normal contralateral structures and the need to precisely control resection depth. Although the application of an augmented reality navigation (ARN) system for CFD surgery has been documented, to our knowledge its specific use in identifying key neurovascular structures has not been reported.

Methods: We present the application of an ARN system for the surgical management of an 18-year-old woman with CFD. The virtual plan was designed to visualize the extent of tumor, identify normal and abnormal vasculature, and guide the reconstruction of a normal anatomical contour.

Results: ARN was successfully integrated into the surgical workflow and optimized operative planning, identification of tumor margins, avoidance of neurovascular structures, reconstruction, and symmetric recontouring. The ability to visualize structures in real time proved to be especially beneficial for making intraoperative adjustments.

Conclusion: ARN has significant applications for CFD surgery by providing real-time, three-dimensional simulation, and precise overlay of patient-specific anatomy and pathology, facilitating safe resection, and providing a useful reconstruction guide. To our knowledge, this report presents the first detailed description of its utility in visualizing critical neurovascular structures, offering significant potential to enhance surgical safety and patient outcomes.

This case report presents a 29-year-old male with diabetes mellitus who developed rhino-orbito-cerebral mucormycosis (ROCM) that was successfully treated with liposomal amphotericin B orbital injections. Despite emergent endoscopic debridement, the patient's disease progressed intracranially and intraorbitally, but he declined further surgical intervention. Subsequently, due to rapid acute vision loss, we initiated transcutaneous retrobulbar amphotericin B (TRAMB) injections. Following these injections, visual acuity, motility, and intraorbital fungal burden improved despite intracranial progression. This report highlights the benefits of TRAMB administration in aggressive fungal infections and explores the mechanisms behind its effectiveness, particularly in globe preservation. By targeting the infection in an area with a relatively robust blood supply, TRAMB reduces surgical difficulty and improves overall outcomes.

Background: Osteopetrosis is a rare genetic disorder characterized by abnormal bone density and structure, often leading to vision loss due to optic canal stenosis and consequent nerve compression. Early intervention is critical to prevent irreversible damage. This case report discusses the management of bilateral optic nerve compression in an infant with osteopetrosis.

Case description: A 7-month-old male with a family history of osteopetrosis presented with hepatosplenomegaly. The infant was diagnosed with osteopetrosis based on radiological findings and genetic testing. Ophthalmologic examination and magnetic resonance imaging showed evidence of bilateral optic nerve compression. Endoscopic transcaruncular optic nerve decompression was not attainable The patient underwent a bilateral expanded endoscopic endonasal medial orbital wall and optic canal decompression.

Conclusion: This is one of the few reported cases of endoscopic endonasal optic nerve decompression surgery on an infant. Endoscopic endonasal optic nerve decompression surgery is a viable and effective treatment option for optic nerve compression in infants with osteopetrosis, especially in cases where cost of surgery is a limiting factor for patients. This approach provides direct access to the optic canal with minimal morbidity, offering significant potential for visual recovery, and an improved quality of life. Our patient represents the youngest reported infant in the literature, demonstrating the potential for undergoing this surgical approach at the earliest possible age to aid with his prognosis.

Introduction: The reverse question mark (RQM) incision is the conventional scalp flap technique incorporated during decompressive hemicraniectomy (DHC) operations. Recently, the retroauricular (RA) incision emerged as a possible alternative. We sought to assess the contemporary literature regarding postoperative outcomes following RQM or RA for DHC and subsequent cranioplasty.

Methods: MEDLINE and Embase databases were queried using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Studies reporting outcomes after primary DHC and secondary cranioplasty for both RQM and RA were included in a meta-analysis of proportions performed using random-effects modeling.

Results: Five manuscripts representing a total of 511 patients met the inclusion criteria. No difference was observed in the rate of primary surgical site infection (SSI) after RQM as compared with RA (OR = 1.64, 95% CI = 0.92-2.92). Similarly, based on those four studies reporting SSI data after cranioplasty, no difference was detected in secondary SSI rates between RQM and RA (OR = 1.93, 95% CI = 0.79-4.72). Patients who underwent primary RQM had increased odds of undergoing cranioplasty compared with patients who had received a primary RA (OR = 1.57, 95% CI = 1.03-2.39).

Conclusion: This novel systematic review and meta-analysis reported postoperative outcomes after DHC using either the RQM or RA incision technique. No significant difference was noted in SSI after either the primary decompression or the secondary cranioplasty. These findings support the use of either technique in routine practice, as guided by surgeon preference or other clinical considerations, such as superficial temporal artery preservation for an unrelated future indication.

Background: Although malignant transformation of benign vestibular schwannoma (VS) preceded by irradiation has been well documented, few studies have demonstrated malignant transformation in the absence of radiation. Here, we present a rare case of the malignant transformation of a benign VS to a malignant peripheral nerve sheath tumor (MPNST) in the absence of prior irradiation. Additionally, we conducted a literature search to identify all other reported cases of MPNST arising from VS under similar conditions.

Case presentation: A 75-year-old female presented to the hospital with a 1-month history of left-sided facial numbness, loss of taste on the left side of her tongue, severe dysarthria, and recent-onset cranial nerve VI and VII palsies. MRI of the brain with and without contrast demonstrated an enlarging cerebellopontine angle mass and signs of brainstem compression. The patient underwent a left retrosigmoid craniotomy and surgical resection. Pathology and immunohistochemistry sequencing findings were consistent for MPNST with rhabdomyoblastic differentiation (malignant triton tumor). An outside review of the case by a large academic institution concurred with the diagnosis. The patient did not report any previous history of irradiation.

Conclusion: A total of 11 cases, including ours, have appropriate S-100 immunochemical reactivity to confirm malignant transformation. Due to the limited number of reported cases of MPNST arising from VS without prior irradiation, information regarding pathogenesis and pathological diagnosis is scarce. We provide valuable additions to the literature, including next-generation sequencing data, to identify potentially targetable genetic changes and help elucidate the pathogenesis of MPNST.

Objective: Chondro-osseous respiratory epithelial adenomatoid hamartoma (COREAH) is a rare benign growth within the nasal cavity or paranasal sinuses. We aim to highlight the pathogenesis and clinical presentation of an extremely rare benign mass within the nasal cavity and demonstrate the workup, diagnosis, and management of this rare lesion, as well as review the literature.

Methods: Retrospective review of a patient presenting with COREAH of the sinonasal cavity treated at a single tertiary academic medical center. The MEDLINE database was additionally searched for all case series or reports of sinonasal or skull base COREAH.

Results: A total of sixteen articles were identified for review. In addition to the current case, a total of nineteen patients were identified in literature found to have sinonasal or skull base COREAH. The most common primary sites of attachment were the lateral nasal wall and posterior septum. Only two cases were identified with skull base attachment. Computed topography (CT) was employed in 84.2% of patients, and CT with MRI was utilized in 26.3% of patients. Endoscopic resection was performed in 100% of patients, with one recurrence reported in the literature and one incomplete resection requiring revision surgery.

Conclusion: COREAH is an extremely rare hamartoma consisting of glandular proliferation with cartilaginous and osseous stroma. COREAH is symptomatic in 100% of reported cases in the literature, and complete surgical resection is often curative. Our case represents the longest follow-up reported with 4 years postoperatively revealing no growth or recurrence of COREAH.

Academic scholarship is an increasingly emphasized component of undergraduate medical education (UME), in particular since the USMLE Step 1 examination transitioned to a pass/fail grading scheme in 2022. Peer review is a cornerstone of academic publishing, but essentially no formal training exists at the UME or graduate medical education levels to prepare trainees for participation in the process as authors or reviewers. This clinical research primer presents an introductory set of guidelines and pearls to empower trainee participation in the peer-review process as both authors and reviewers. We outline a systematic approach to manuscript evaluation and recommend a nonlinear strategy that begins with the Abstract and Methods, followed by Figures, Tables, and Results, concluding with the Discussion. This framework includes guidelines for constructing effective reviews, from initial summary and overall recommendations to specific, actionable comments. Participation in peer review can also advance trainees' scholarly development by exposing gaps in literature that inspire new research questions and developing their ability to anticipate and address potential reviewer critiques in their own manuscript preparation. While initial implementation requires close supervision from experienced mentors, this structured approach streamlines the peer-review learning process and provides substantial benefits for all participants in academic publishing, enhancing both mentorship relationships and scholarly development.

Rhabdomyosarcoma (RMS) is a rare malignant tumor, affecting 4.58 per 1 million children, with approximately 35% occurring in the head and neck. Skull base RMS commonly presents at advanced stages and delays diagnosis due to its overlapping features with other skull base pathology, and difficulty accessing the lesion for biopsy. This case illustrates these challenges in skull base RMS mimicking osteomyelitis of the petrous apex. Case: A 6-year-old immunocompetent female, with a history of two acute otitis media episodes, presented with a 3-week history of sixth cranial nerve palsy and sudden-onset complete seventh cranial nerve palsy. She did not have pain or otorrhea. Computed tomography (CT) and magnetic resonance imaging revealed a 1.3 cm left petrous apex enhancing lesion with extension into the mastoid and clivus with surrounding bony and soft tissue destruction. A nuclear medicine scan (Technetium-99m followed by gallium) demonstrated avid uptake in the left petrous apex. The working diagnosis was skull base osteomyelitis, for which the patient received 2.5 weeks of antibiotics. After failing to improve, repeat imaging showed significant progression of the disease and extension into the nasopharynx and sphenoid sinus. An endoscopic trans-sphenoidal biopsy was performed with pathology consistent with RMS. CT chest revealed lung metastases. The patient partially responded to chemotherapy with vincristine, actinomycin-D, and cyclophosphamide alternating with vincristine and irinotecan. During week 13 of chemotherapy, she received concomitant proton therapy to a total dose of 5040 cGyRBE. Five months after diagnosis, she developed leptomeningeal spread, which was further complicated by meningitis, and passed away.

Osteopetrosis is a rare genetic disorder characterized by impaired osteoclast function and excessive bone density, often leading to compressive optic neuropathy due to bony overgrowth of the optic canal. Timely surgical intervention is critical for preventing permanent vision loss in affected patients. This review summarizes the available literature on the surgical techniques of endoscopic endonasal optic nerve decompression (EEOND) and the transcaruncular approach in osteopetrosis patients. EEOND is a minimally invasive technique that offers excellent visualization, advanced instrumentation, and access to the optic nerve through the nasal corridor and requires mastering the anatomy of the sphenoid bone to achieve success. However, challenges arise from the dense and brittle nature of the bone in osteopetrosis, complicating the procedure. The transcaruncular approach provides a targeted route to the medial optic canal with minimal external scarring. However, its limited scope may not suffice for extensive decompression in severe cases. Early surgical intervention correlates with better visual outcomes, particularly in pediatric patients who are at higher risk for rapid progression of vision loss. Integrating advanced imaging and hybrid surgical techniques may enhance decompression efficacy. In conclusion, both EEOND and the transcaruncular approach are valuable for managing optic nerve compression in osteopetrosis, each with distinct advantages and limitations. Ongoing advancements in surgical techniques and a multidisciplinary approach are essential to optimize patient outcomes.

Background  Subependymal giant cell astrocytoma (SEGA) is a rare neoplasm arising from subependymal tissue. Predominantly associated with the tuberous sclerosis complex (TSC), SEGA may present with a range of diverse symptoms, most commonly seizures or neurocutaneous features of TSC. We present a novel case of sporadic SEGA in a 59-year-old woman who presented with acute intraparenchymal hemorrhage (IPH). Methods  Systematic literature review and illustrative case example. Results  A 59-year-old woman presented with a headache decreased level of consciousness, and acute IPH involving the anterior septum pellucidum and right medial caudate head. MRI was concerning for an underlying neoplasm, which grew slowly on follow-up imaging, prompting microsurgical resection. A gross total resection was achieved, and postoperative pathology confirmed SEGA (WHO grade I) without TSC1/2 mutation. She remained disease-free and neurologically intact at 1-year follow-up. A systematic review identified seven publications that revealed pathologically confirmed SEGA in nine adult patients without TSC. Headache, papilledema, and visual disturbances were the most common presenting symptoms. Treatment protocols included microsurgical resection versus biopsy followed by radiographic surveillance, and the overall rate of symptom-free survival was at least 80% as of the last follow-up. Conclusion  We report the tenth case of sporadic SEGA in an adult patient without TSC, as well as an associated systematic review of this rare neoplastic entity. Further study is required to identify risk factors for the development of sporadic SEGA, as well as potential avenues for the management of this disease that may depart from the standard protocol in pediatric TSC patients.