Journal of Korean Neurosurgical Society最新文献

Neurofibromatosis type 2 (NF2) is a rare genetic disorder caused by mutations in the NF2 tumor suppressor gene, characterized by bilateral vestibular schwannomas (VSs) and other central and peripheral nervous system tumors. Pediatric patients often present with more aggressive disease, greater tumor burdens, and increased morbidity compared to adults. Management requires a multidisciplinary approach that balances tumor control with functional preservation. While surgery and radiosurgery remain key treatment options, they carry risks such as hearing loss and malignant transformation of existing tumors. Bevacizumab and emerging therapies like gene therapy show promising therapeutic effects but are limited by variability in efficacy. Comprehensive care, including psychosocial support, is essential to improve clinical outcomes and quality of life for children with NF2.

Objective: In preclinical research of Parkinson's disease, several rodent models, notably the classical 6-hydroxydopamine (6-OHDA) model and the A53T-alpha-synuclein model, have been widely used, yet their distinct neurochemical characteristics in conjunction with behavioral and histopathological changes have been scarcely documented.

Methods: We examined the two rat models of Parkinson's disease and characterized them using [18F]FP-CIT animal PET imaging. The 6-OHDA model (n=10) was induced by unilateral injection of 6-OHDA into the middle forebrain bundle, while the A53T-alpha-synuclein model (n=10) was mediated by the adeno-associated viral vectors injected into the substantia nigra. We hypothesized that these models would present differential neurochemical profiles, which could reflect their behavioral and histopathological features and potentially serve as a supplementary tool for evaluating the outcomes of interventions in animal experiments.

Results: The striatum showed decreased PET uptake on the affected side compared to the unaffected control side, which was highly correlated with the stepping behaviors (R = 0.854 [95% CI, 0.606 to 0.951]). The decrease in striatal PET uptake was more pronounced in the 6-OHDA model than in the A53T-alpha-synuclein model: the 6-OHDA model exhibited a 60% [95% CI, 48% to 65%] decrease in the affected side compared the control side, while the A53T-alpha-synuclein model exhibited a 20% [95% CI, -16% to 47%] decrease. Interestingly, PET uptake in the forebrain cortical region, including the motor cortex, was exclusively decreased in the 6-OHDA model (p = 1.0×10-4 and p = 1.2×10-3, respectively), indicating that 6-OHDA model is affected not only in the nigrostriatal system but also in other cortical regions. Conversely, the A53T-alpha-synuclein model showed no significant alterations in these cortical regions.

Conclusion: Although the A53T-alpha-synuclein model demonstrates less definitive behavioral changes compared to the 6-OHDA model, it presents a more confined pathophysiological representation of Parkinson's disease and may be better suited for evaluating certain therapeutic interventions when utilized with adequate neurochemical characterization.

Pathogenic germline variants (PGVs) are increasingly recognized as critical elements in pediatric cancer predisposition. Determining the pathogenicity of germline variants is a dynamic process, with advancements in next-generation sequencing (NGS) and expanding genome databases reshaping our understanding of cancer genomics. This article reviews the role of PGVs in key oncogenic pathways, including RTK/RAS/MAPK, PI3K/AKT, WNT, and Hedgehog signaling, highlighting their associations with specific cancer predisposition syndromes and neurosurgical implications. Most PGVs are inherited in an autosomal dominant pattern and are frequent in tumor suppressor genes, while autosomal recessive conditions like Ataxia-telangiectasia and Fanconi anemia are less common. Germline variants in proto-oncogenes such as PTPN11, KRAS, and HRAS are associated with RASopathies, including Noonan and Costello syndromes, which show variable cancer risks. Similarly, PTEN PGVs, linked to Cowden syndrome, and DICER1 PGVs, responsible for DICER1 syndrome, exemplify the diverse clinical presentations and risks of pediatric cancer predisposition syndromes. Medulloblastoma, a pediatric-specific brain tumor, shows an increasing proportion of PGVs, with approximately 12% of all medulloblastomas harboring PGVs in APC, PTCH1, SUFU, and ELP1 in the WNT-activated and SHH-activated subtypes. Emerging evidence suggests that approximately 8.5-20% of pediatric cancer patients harbor PGVs, with a substantial proportion arising de novo. Routine germline screening for pediatric cancer patients is increasingly recommended, as many PGVs lack family history. Programs like STREAM (Solid Tumor REsearch And Magic) in Korea underscore the importance of comprehensive pediatric genome databases for personalized precision medicine. As neurosurgeons are frequently the first to encounter central nervous system tumor manifestations, a robust understanding of genomic medicine is essential. This review emphasizes the need for international collaboration to develop actionable insights into pediatric cancer genomics, ultimately improving diagnostic, therapeutic, and preventive strategies.

Objective: This retrospective study aims to analyze hemorrhage complications in patients undergoing deep brain stimulation (DBS) surgery, focusing on the impact of imaging modalities and trajectory planning.

Methods: We conducted a retrospective review of patients who underwent DBS at a single institution from September 2018 to February 2023. Surgical planning data were analyzed using a combination of 1.5 Tesla(T) and 3.0 T Magnetic resonance image (MRI) for trajectory planning. Trajectories were classified into four types (Type 1-4) based on the proximity of vascular structures within 2 mm on preoperative MRI scans, as defined in this study. Hemorrhage presence was evaluated through postoperative computed tomography (CT) scans.

Results: Out of 200 patients analyzed, Type 1 trajectories (no vascular structures within 2 mm on both MRIs) accounted for 72.70% of cases with the lowest hemorrhage rate. Significant differences in hemorrhage rates were observed among the types, with higher risks associated with Type 4 trajectories. Additionally, significant variations in vascular structure types were noted across DBS targets, with STN showing the highest risk.

Conclusion: Meticulous trajectory planning using both 1.5T and 3.0T MRI is crucial in minimizing hemorrhagic complications in DBS. The study underscores the need for precise imaging and planning to enhance patient safety and surgical outcomes.

Objective: To evaluate clinical and radiological outcomes of biportal endoscopic posterior cervical inclinatory foraminotomy (BE-PCIF) to treat cervical spondylotic radiculopathy (CSR).

Methods: This retrospective study included patients with CSR who underwent BE-PCIF between April 2020 and April 2023. Patient demographic data were collected and clinical outcomes were assessed using the visual analog scale (VAS) and MacNab criteria. Various radiological parameters, including inclinatory angles, were collected and correlations with demographic or radiological factors were evaluated.

Results: We included 101 patients (46 men and 55 women) with a mean age of 56.99 years, encompassing 162 surgical levels primarily affecting the C5-6 and C6-7 vertebrae. The postoperative VAS scores decreased to <1, with 90.1% of patients reporting excellence according to the MacNab criteria. None of the patients experienced any major postoperative complications, including instability. The isthmic distance (ID) expansion ratio, representing the degree of distal decompression, was 2.4, with a minor facet resection rate of 0.4. Right-sided surgeries or surgeries at lower cervical levels correlated with higher inclinatory angles, with a p-value of 0.003 each. Significant correlations were noted between the inclinatory angle and both the facet resection rate and ID expansion ratio, with coefficients of 0.45 and 0.3, respectively, both having a p-value of <0.001, indicating strong statistical significance.

Conclusion: BE-PCIF effectively relieves pain and enhances clinical outcomes in CSR patients. The use of the inclinatory angle approach facilitates cervical foraminal expansion and sufficient neural decompression, with higher angles required for adequate decompression at lower cervical levels.

Objective: This study investigated the usefulness of somatosensory-evoked potentials (SEP) and motor-evoked potentials (MEP) in predicting motor outcomes in patients with intracerebral hemorrhage (ICH) and intraventricular hemorrhage (IVH) extension.

Methods: We retrospectively evaluated 124 patients with ICH and IVH extensions. SEPs of posterior tibial nerve and MEPs of tibialis anterior muscles were evaluated.

Results: About 30% of the patients could walk independently at 6 months from the onset. Patients who exhibited SEP in both bilateral posterior tibial nerves demonstrated better ambulatory function compared to those with SEP in only one unilateral posterior tibial nerve or no SEP in both sides of the posterior tibial nerves. Likewise, patients who displayed MEP in both bilateral tibialis anterior muscles exhibited better ambulatory capacity compared to those with MEP on only one side or no MEP on both sides. In addition, when the posterior tibial nerve SEP was present bilaterally, 54.9% of the patients could walk independently, and when the MEP from the tibialis anterior muscles was present bilaterally, 41.0% of the patients could walk without any assistance.

Conclusion: SEP and MEP could be useful tools for predicting ambulatory function in patients with ICH accompanied by IVH.

The causes of sudden vision loss in one eye include isolated eye diseases, vascular pathologies, and optic nerve compression. This report highlights a case of parasitosis (Echinococcus granulosus) causing sudden vision loss due to optic nerve compression. To our knowledge, this is the first reported case of a hydatid cyst extending into the optic canal through opticocarotid triangle in a pediatric patient. A 12-year-old girl presented to the ophthalmologist with progressive visual deterioration over a period of 1 week. Examination revealed reduced visual acuity in her right eye. No ocular abnormality was detected on examination, cranial imaging revealed a lesion compressing the right optic nerve and the patient was referred to neurosurgery. The bright white lesion with a microscopic appearance resembling an epidermoid tumor was completely excised after aspirating the contents with transcranial access. Pathology was reported as hydatid cyst. Hydatid cysts invading the optic canal should be considered in the differential diagnosis of sudden visual loss in the pediatric age group; however, it continues to be an important health problem in developing countries. Meticulous excision of the cyst capsule without rupture ensures the success of surgical treatment.

Objective: Intracranial aneurysm (IA) is a cerebrovascular disease in which the cerebral arteries become pathologically weakened. The molecular mechanisms behind the pathogenesis of IAs are poorly understood. MicroRNAs are highly stable in body fluids and the expression signatures of specific circulating miRNAs may be associated with high rupture risk, severity, and clinical outcome of SAH.

Methods: The presented study aimed to detect miRNA-based biomarkers and evaluating the usability of blood for a non-invasive approach. Blood samples from 24 patients with unruptured IA (Group 1), blood and CSF samples collected on day five after aSAH from 24 patients with ruptured IA (Group 2), and both the blood and CSF samples from 24 individuals without any positive IA history (Control group) were subjected to qRT-PCR for evaluating the expression profiles of 8 miRNAs.

Results: MiR-29a, miR-200a-3p, miR-451a, miR-1297, and miR-502-5p in blood and miR-29a, miR-200a-3p, miR-451a, miR-126, miR-146a-5p, and miR-27b-3p in CSF were found to be differentially expressed in ruptured patients compared to controls. In both biofluids of ruptured cases, the differences in the expression profiles of miR-29a, miR-200a-3p, and miR-451a compared to controls were striking. The upregulation of miR-126, miR-200a-3p, miR-451a, and miR-502-5p in the ruptured group compared to unruptured patients suggesting that these miRNAs may be informative in predicting the risk of an aneurysmal rupture.

Conclusion: MiR-29a, miR-200a-3p, and miR-451 were significantly altered in patients with aSAH compared to controls in both biofluids. These findings suggest that these miRNAs could be candidate non-invasive biomarkers for aSAH.