KunHee Han, Jai Ho Choi, Woo Cheul Cho, Hyeong Jin Lee, Yong Sam Shin
{"title":"Risk Factors for Unfavorable Angiographic Outcomes after Reconstructive Endovascular Treatments of Unruptured Vertebral Artery Dissecting Aneurysms.","authors":"KunHee Han, Jai Ho Choi, Woo Cheul Cho, Hyeong Jin Lee, Yong Sam Shin","doi":"10.3340/jkns.2025.0076","DOIUrl":"https://doi.org/10.3340/jkns.2025.0076","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the clinical and radiological features of unruptured vertebral artery dissecting aneurysms (uVADAs) treated with reconstructive endovascular techniques and to evaluate the risk factors associated with unfavorable radiological outcomes while focusing on the flow diversion effect.</p><p><strong>Methods: </strong>We retrospectively reviewed 86 patients with uVADAs treated at a single tertiary center between January 2009 and December 2022. The patients were categorized into the flow diversion group (patients with uVADAs treated with a flow diverter or multiple stents) and the non-flow diversion group (patients with less than a single stent insertion). Unfavorable angiographic outcomes were defined as 1) recurrence after coil insertion regardless of stent deployment or 2) no regression after stent insertion without coil packing. Univariate and multivariate analyses were performed to assess the related risk factors.</p><p><strong>Results: </strong>We observed 37 uVADAs in the flow diversion group. Recurrence or no regression occurred in 2 of 37 (9.1%) and 13 of 49 (27.7%) uVADAs in the flow and non-flow diversion groups, respectively. The treatment without flow diversion effect (non-flow diversion group; odds ratio [OR] = 8.04, 95% confidence interval [CI] = 1.23-52.57, p = 0.003) and hypertension (OR = 22.09, 95% CI = 2.51-194.2, p = 0.005) were significantly associated with unfavorable angiographic outcomes.</p><p><strong>Conclusion: </strong>The flow diversion effect using a flow diverter or multiple stents insertion, along with strict blood pressure control, may be an important factor in achieving favorable angiographic outcomes in uVADA treatment.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144497352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rose Fluss, Riana Lo Bu, Keyvan Ghadimi, Jason Yu, Maya Jurgens, Imane Abbas, Nagma Dalvi, Allison Martin, Andrew J Kobets
{"title":"Allergic Reaction to a Bovine-Derived Dural Graft Without Eosinophilic Meningitis: A Case Report and Literature Review.","authors":"Rose Fluss, Riana Lo Bu, Keyvan Ghadimi, Jason Yu, Maya Jurgens, Imane Abbas, Nagma Dalvi, Allison Martin, Andrew J Kobets","doi":"10.3340/jkns.2025.0092","DOIUrl":"https://doi.org/10.3340/jkns.2025.0092","url":null,"abstract":"<p><p>Bovine-derived dural substitutes are commonly used in cranial and spinal duraplasty. Although they are generally well tolerated, allergic reactions have been reported-almost all presented with eosinophilic meningitis. A 7-year-old girl with Li Fraumeni syndrome and diffuse pediatric glioma underwent a third salvage resection in which a bovine collagen dural onlay was placed. Ten days post operatively, she developed fever, lethargy, and a subcutaneous scalp fluid collection. Cultures and imaging were negative for infection; cerebrospinal fluid (CSF) revealed pleocytosis (elevated white blood cells and protein) without eosinophilia. High-dose dexamethasone produced transient clinical and radiographic improvement, but fever and fluid re accumulated whenever steroids were tapered. Given the steroid dependence and persistently negative infectious work up, the graft was explanted. Pathology demonstrated a foreign body giant cell reaction without eosinophils, and the patient's symptoms resolved permanently after removal. This report documents the first pediatric case of bovine-derived dural graft hypersensitivity without eosinophilic meningitis. Clinicians should consider graft-related allergy in children who develop recurrent fluid collections and fevers after duraplasty-even when CSF eosinophils are absent and cultures remain negative and should recognize that definitive treatment may require graft removal rather than prolonged steroid therapy.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144325992","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Editors' Pick in July 2025.","authors":"Hee-Jin Yang","doi":"10.3340/jkns.2025.0121","DOIUrl":"https://doi.org/10.3340/jkns.2025.0121","url":null,"abstract":"","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302293","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Lordosis Distribution Index in an Asymptomatic Elderly Population : The Role of Lower and Upper Lumbar Lordosis According to Individual Pelvic Incidence and Roussouly Type.","authors":"Seung-Jae Hyun, Sanghyun Han, Youngbae B Kim","doi":"10.3340/jkns.2025.0086","DOIUrl":"https://doi.org/10.3340/jkns.2025.0086","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to elucidate the normative upper and lower lumbar lordosis (ULL and LLL) based on individual pelvic and spinal morphology within an asymptomatic elderly population.</p><p><strong>Methods: </strong>Whole spine standing radiographs were obtained from asymptomatic elderly populations who had not undergone previous spinal surgery. The lumbar lordosis (LL), lower LL and upper LL were measured. Pelvic incidence (PI) and the lordosis distribution index for the upper and lower lumbar spine (ULDI and LDI, respectively) were calculated. Pearson correlation and linear regression analyses were performed, and the mean value for each parameter was obtained according to PI subgroup (PI < 40°, 40° ≤ PI < 50°, 50° ≤ PI < 60°, and 60° ≤ PI) and \"theoretical\" Roussouly type.</p><p><strong>Results: </strong>Overall, data from 150 male were retrospectively collected in the study, with an average age of 64.1 ± 6.4 years. The mean height was 167.0 ± 5.5 cm, weight was 67.3 ± 9.8 kg, and body mass index was 24.1 ± 3.1 kg/m2. The average LL was -57.5° ± 9.0°, LLL was -39.7° ± 6.8°, and PI was 48.6° ± 8.6°. PT tended to increase with ULL, PI-LL, PI-ULL, PI-LLL, and ULDI and decrease with LLL and LDI. However, PT was not significantly related to LL. The mean ULDI and LDI were 30.4% ± 11.7% and 69.7% ± 11.7%, respectively. The differences between PI and LL (PI-LL) and between PI and LLL (PI-LLL) were -8.9° ± 8.0° and 9.0° ± 9.3°, respectively. As PI increased from low (<40°) to high (≥60°), ULDI increased significantly from 25.9% to 38.9%, while LDI decreased from 74.1% to 61.1%. Additionally, LDI varied by Roussouly type, ranging from 62.6% to 81.0%. The LDIs of Roussouly types 1 and 4 were significantly higher and lower, respectively, than those of types 2 and 3 (p < 0.001).</p><p><strong>Conclusion: </strong>As PI and Roussouly type increase, the contribution of ULL to overall LL rises, reaching up to 38.9%. Conversely, LLL substantially impacts LL in patients with a low PI and those classified as Roussouly type 1. PT is significantly related to LLL instead of LL according to PI.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jong Tae Ko, Sang Hyub Lee, Tae Yong An, Dong Hwan Kim, Dong Ho Kang
{"title":"Risk Factor Analysis of Simple Drainage Followed by Instrumented Fusion in Patients with Pyogenic Spinal Infection.","authors":"Jong Tae Ko, Sang Hyub Lee, Tae Yong An, Dong Hwan Kim, Dong Ho Kang","doi":"10.3340/jkns.2025.0084","DOIUrl":"https://doi.org/10.3340/jkns.2025.0084","url":null,"abstract":"<p><strong>Objective: </strong>The first-line treatment for pyogenic spondylitis is conservative management with immobilization and systemic antibiotic therapy. However, in cases where conservative treatment fails or neurological deficits and spinal instability are present, surgical intervention is required. Surgical treatment helps manage spondylitis by decompressing neural structures through abscess drainage and maintaining spinal stability. It includes simple decompression via abscess removal, debridement of inflamed and necrotic tissues, and reconstruction with fixation. This study aims to analyze the risk factors associated with clinical outcomes in patients undergoing simple drainage followed by instrumented fusion.</p><p><strong>Methods: </strong>We retrospectively evaluated patients who underwent surgical treatment with intravenous antibiotics for pyogenic spondylitis at our hospital between March 2010 and November 2021. We categorized the study group into a group that underwent simple decompression and drainage and a group that was followed up until fusion. We compared the basic demographics, laboratory data, and radiological findings between the two groups.</p><p><strong>Results: </strong>Overall, 88 patients (50 males and 38 females) with a mean age of 63.8 years were included in this study. Of the 88 patients, 71 underwent simple abscess drainage and 17 underwent instrumented fusion. In the univariate logistic regression analysis based on demographic data, longer duration of antibiotic use (p=0.021), body signal change (p=0.001), facet inflammation (p=0.003), disc abscess (p<0.001), psoas abscess (p=0.003), disc space bone erosion (p=0.006), and hypertension (p=0.024) were significant risk factors for necessitation of fusion surgery after decompression and drainage surgery. Multivariate logistic regression analysis based on these risk factors revealed that the longer the period of total antibiotic use after decompression and drainage (p=0.019), the higher the risk of fusion surgery, as well as a higher risk of body signal change.</p><p><strong>Conclusion: </strong>When planning surgical treatment for pyogenic spondylitis, close observation is required because the necessity for instrumented fusion surgery increases when antibiotic use is prolonged or body signal changes are confirmed on magnetic resonance imaging.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jason K Lim, Marium Raza, Do H Lim, Samuel Kim, Jeffrey M Breton, David Zhao, Patrick Kim, Mani N Nair, Christoph P Hofstetter, Byeong Cheol Rim
{"title":"Comparative Study on Clinical Outcomes of Posterior Endoscopic Cervical Foraminotomy under Local Anesthesia with Conscious Sedation and General Anesthesia.","authors":"Jason K Lim, Marium Raza, Do H Lim, Samuel Kim, Jeffrey M Breton, David Zhao, Patrick Kim, Mani N Nair, Christoph P Hofstetter, Byeong Cheol Rim","doi":"10.3340/jkns.2024.0229","DOIUrl":"https://doi.org/10.3340/jkns.2024.0229","url":null,"abstract":"<p><strong>Objective: </strong>Posterior endoscopic cervical foraminotomy (PECF) is a minimally invasive surgical technique for treating cervical radiculopathy. Traditionally, PECF is performed under general anesthesia in the prone position, but concerns over anesthesia-related complications have led to the exploration of local anesthesia in the lateral decubitus position as an alternative. This study aims to compare the clinical outcomes, safety, and efficacy of PECF performed under local anesthesia in the lateral decubitus position versus general anesthesia in the prone position.</p><p><strong>Methods: </strong>We conducted a retrospective analysis of 13 patients who underwent PECF under local anesthesia in the lateral decubitus position. The outcomes were compared with data from 357 patients across eight studies who underwent PECF under general anesthesia in the prone position. Outcomes measures included visual analog scale (VAS) pain scores, Oswestry disability Index (ODI), length of stay (LOS), minimally clinically important difference (MCID), and complications.</p><p><strong>Results: </strong>Patients in the local anesthesia group demonstrated significant reductions in neck pain (VAS-N: 4.93±1.32 to 1.49±0.52, p<0.001) and arm pain (VAS-A: 8.69±0.75 to 1.85±1.46, p<0.001), achieving a mean pain reduction of 78.8%. These improvements were comparable to the general anesthesia group (VAS-N: 4.80 to 1.28; VAS-A: 6.71 to 1.23). Functional outcomes improved significantly in both groups, with ODI scores improving from 54.76% to 9.82% locally and from 39.92% to 9.62% in the general group. Although length of stay was slightly longer for the local anesthesia group (5.85±3.20 vs. 4.81±2.17 days, p=0.18), post-procedure monitoring time was significantly shorter (3.2 vs. 7.4 hours, p<0.001). The local anesthesia group reported zero complications (0%, 95% CI: 0-22.8%) compared to an 8.68% complication rate (95% CI: 5.8%-11.6%) in the general anesthesia cohort (p=0.612).</p><p><strong>Conclusion: </strong>PECF under local anesthesia in the lateral decubitus position provides comparably effective pain relief and functional improvement comparable to general anesthesia, though the difference in complication rates was not statistically significant and requires larger studies for confirmation. This technique may be particularly advantageous for patients at higher risk for anesthesia-related complications. Further research is warranted to validate these findings in larger, prospective studies.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248202","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Younggyu Oh, Subum Lee, Jinuk Kim, Seo Eun Kim, Jae Hwan Cho, Jin Hoon Park
{"title":"Short-Segment Fixation with Anterior Support versus Long-Segment Fixation with Separation Surgery for Thoracolumbar Spinal Metastatic Tumors : A Comparative Analysis.","authors":"Younggyu Oh, Subum Lee, Jinuk Kim, Seo Eun Kim, Jae Hwan Cho, Jin Hoon Park","doi":"10.3340/jkns.2024.0208","DOIUrl":"10.3340/jkns.2024.0208","url":null,"abstract":"<p><strong>Objective: </strong>This study aims to evaluate and compare the clinical and radiographic outcomes of patients with metastatic spinal tumors who underwent either short-segment fixation with anterior support or long-segment fixation with a separation surgery in the thoracic or lumbar spine.</p><p><strong>Methods: </strong>We conducted a retrospective analysis of adult patients who were treated surgically for spinal metastases in the thoracic or lumbar spine at a single tertiary referral center between April 2014 and December 2022. Surgical treatments included spinal cord decompression, short-segment fixation with maximal circumferential debulking of the lytic tumor portion and anterior support, or long-segment fixation without anterior support, followed by separation surgery and posterolateral fusion. We compared the two fixation strategies based on patient demographics, preoperative diagnoses, surgical data, neurological assessments, and changes in segmental Cobb angles immediately after surgery, and at the final follow-up.</p><p><strong>Results: </strong>A total of 91 patients were included (short-segment = 44, long-segment = 47). No significant differences were observed between the groups regarding age, sex, comorbidities, primary cancer location, postoperative complications, or reoperation rates. Furthermore, no significant differences in the sagittal Cobb angles, including global angle (thoracic kyphosis, lumbar lordosis) and segmental angle were noted from the preop to the final follow-up. Compared to traditional long-segment fixation, short-segment fixation with anterior support significantly improved neurological outcomes in the thoracic region and reduced the length of hospital stay. No significant differences were observed between the two groups regarding complications or other clinical outcomes.</p><p><strong>Conclusion: </strong>Short-segment fixation is comparable to long-segment fixation in the management of thoracolumbar metastatic spinal tumors, with no significant differences in radiographic outcomes. However, short-segment fixation provides the added advantages of improved neurological outcomes in the thoracic region and shorter hospital stays.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248201","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Donghwan Choi, Nam Kyu You, Hohyung Jung, Dongmin Seo, Jaeri Yoo, Tae Seok Jeong
{"title":"The Transfusion Timing of Plasma and Red Blood Cells in a 1 : 1 Ratio Is Related with Survival and Functional Outcomes in Multiple Trauma Patients with Severe Traumatic Brain Injury.","authors":"Donghwan Choi, Nam Kyu You, Hohyung Jung, Dongmin Seo, Jaeri Yoo, Tae Seok Jeong","doi":"10.3340/jkns.2025.0006","DOIUrl":"https://doi.org/10.3340/jkns.2025.0006","url":null,"abstract":"<p><strong>Objective: </strong>High-ratio plasma transfusion is proposed as a strategy for treating polytrauma with severe traumatic brain injury (TBI). This study analyzed outcomes based on the ratio and timing of plasma transfusion.</p><p><strong>Methods: </strong>The clinical characteristics and results were collected from March 2016 to December 2022. Subjects included patients with severe TBI and polytrauma who underwent massive transfusion (MT). Severe TBI was defined as Head Abbreviated Injury Score (AIS) ≥3, and MT was defined as packed Red Blood Cells ≥4 units in the first 4 h and ≥10 units in the first 24 h. The 4-h ratios were assigned to the \"Early group,\" and the 24-h ratios to the \"Catch-up group.\" Next, the ratio of each group was divided into \"≥1:1\" and \"<1:1\" groups, respectively.</p><p><strong>Results: </strong>In this study, 532 patients participated. Mortality rates between the 1:2 and 1:1.5 ratios did not differ statistically; however, a significant difference was noted only at the 1:1 ratio (p=0.006). In the Early group, outcomes did not significantly differ. The logistic regression for 30-d mortality identified independent risk factors, including advanced age, low Glasgow Coma Scale (GOS) scores, high AIS head scores, and a ratio <1:1. For the Catch-up group, the odds ratio for a favorable GOS at ≥1:1 was 1.61, with a 30-d mortality rate of 0.60 when comparing ≥1:1 to <1:1 ratios.</p><p><strong>Conclusion: </strong>This study showed that maintaining a ≥1:1 plasma ratio for 24 h improved functional outcomes and survival, without increased morbidity. Therefore, high-ratio plasma transfusion may be effective in the treatment of patients with polytrauma and severe TBI.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jun Ho Lee, Ji Hyun Youn, Hyun Jung Park, Seung-Jae Hyun
{"title":"Low-Dose Bone Morphogenetic Protein Use in Spinal Fusion : Rethinking Clinical Efficacy.","authors":"Jun Ho Lee, Ji Hyun Youn, Hyun Jung Park, Seung-Jae Hyun","doi":"10.3340/jkns.2025.0025","DOIUrl":"https://doi.org/10.3340/jkns.2025.0025","url":null,"abstract":"<p><p>In spinal fusion surgery, autogenous bone grafting remains the gold standard for achieving optimal bone fusion; however, challenges such as donor site morbidity and limited graft availability have prompted active research into alternative options. Recombinant human bone morphogenetic protein-2 (rhBMP-2) exhibits excellent osteoinductive properties. Using rhBMP-2 was anticipated to promote early and effective fusion, particularly in challenging surgical scenarios involving elderly patients, those with low bone density, or individuals with multiple comorbidities, although in these populations, the biological response to rhBMP-2 may be attenuated and the risk of complications increased. This review provides a comprehensive overview of the development, characteristics, and dose-related adverse reactions of rhBMP-2 in spinal fusion, based on extensive clinical and experimental findings. Factors contributing to the decline in rhBMP-2 usage are also discussed. Furthermore, this review proposes a safer carrier with reduced rhBMP-2 doses to optimize delivery and minimize complications. Emphasis is placed on the critical role of carriers in improving bioavailability control, minimizing side effects, and better aligning with natural bone healing processes.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144216016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Minhua Liao, Hsin-Lun Lee, Yen-Lin Liu, Tai-Tong Wong
{"title":"Neurofibromatosis Type 1 : A General Review.","authors":"Minhua Liao, Hsin-Lun Lee, Yen-Lin Liu, Tai-Tong Wong","doi":"10.3340/jkns.2025.0073","DOIUrl":"https://doi.org/10.3340/jkns.2025.0073","url":null,"abstract":"<p><p>Neurofibromatosis type 1 (NF1) is an autosomal-dominant genetic disorder caused by pathogenic variants in the NF1 gene. Its clinical phenotype is heterogeneous and evolves across the lifespan; approximately 1 in 3,000 individuals worldwide are affected. Cardinal features comprise café-au-lait macules, axillary/inguinal freckling, cutaneous neurofibromas, plexiform neurofibromas, and optic-pathway gliomas. Advanced molecular diagnostics-including next-generation sequencing (NGS) and RNA sequencing-have markedly improved mutation detection rates and facilitate definitive diagnosis. Therapeutic progress has also accelerated: the U.S. FDA has approved the MEK inhibitors selumetinib and mirdametinib for the treatment of plexiform neurofibromas, and these agents may offer benefit for additional NF1-related manifestations. The disorder further compromises skeletal integrity, neurocognitive function, and confers an increased risk of malignancy. This review highlights the necessity for multidisciplinary care of individuals with NF1, with emphasis on early diagnosis, age-stratified health-surveillance suggestion from infancy through adulthood, cancer-prevention strategies, and comprehensive genetic counseling, all aimed at mitigating complications and enhancing quality of life.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144110920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}