BMJ Neurology Open最新文献

{"title":"Neurological complications induced by checkpoint inhibitors: characterising the clinical spectra.","authors":"Anne Merel van Wylick, Martin van den Bent, Bart C Jacobs, Maarten Titulaer, Jeroen Kerstens, Esther Brusse, Ron H J Mathijssen, Daphne W Dumoulin, Astrid A M van der Veldt, Marjolein Geurts","doi":"10.1136/bmjno-2026-001591","DOIUrl":"10.1136/bmjno-2026-001591","url":null,"abstract":"<p><strong>Background: </strong>Timely recognition of immune checkpoint immune-related neurological adverse events (irNAEs) is critical given their potential severity, yet remains challenging due to limited clinical experience. This study investigates clinical presentation and management of irNAEs from a neurological perspective.</p><p><strong>Methods: </strong>We retrospectively identified all patients treated with immune checkpoint inhibitors (ICIs) at Erasmus MC Cancer Institute, Rotterdam, The Netherlands between 2017 and 2024. Patient records were analysed by a neurologist for clinical and treatment of irNAE post-ICI initiation.</p><p><strong>Results: </strong>Of 3176 ICI-treated patients, irNAE was diagnosed in 76 cases (2.4%). Peripheral syndromes occurred in 55 (70%), central in 21 (30%) patients. Classification into distinct disease entities was challenging due to remarkable overlap in affected neurological structures. Median onset of irNAE was 8 weeks after ICI initiation (range 1-104 weeks); 70% developed within 18 weeks. IrNAE-related mortality was 13%, observed only in the first 18 weeks. Fewer non-small cell lung cancer patients developed irNAE (OR, 0.36; 95% CI 0.16 to 0.8; p=0.012) compared with other tumour types. Males (OR, 1.78; 95% CI 1.1 to 2.90; p=0.019) and PD1/CTLA4 combination therapy (OR 2.1, 95% CI 1.28 to 3.46, p=0.004) were associated with increased irNAE incidence. Glucocorticoids were given in 64% of patients; 14% received immunosuppressive therapy beyond steroids. Treatment response varied widely, both clinically and temporally.</p><p><strong>Conclusion: </strong>This retrospective single-centre study confirms irNAEs are infrequent complications of ICI. The distinct symptom profile, with substantial overlap within affected neurological structures, underscores the need for neurological expertise in irNAE care. While most develop within 18 weeks of treatment, late-onset cases occur. Mortality occurred only in early-onset cases.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"8 2","pages":"e001591"},"PeriodicalIF":2.6,"publicationDate":"2026-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13436001/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148674710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expanding the clinical phenotype associated with an ASXL1 pathogenic variant causing a novel neuromuscular disorder with neurodevelopmental features.","authors":"Dominic Spicer, Kathryn Friend, Bing Wu, Nicholas Chia, Roula Ghaoui","doi":"10.1136/bmjno-2025-001540","DOIUrl":"10.1136/bmjno-2025-001540","url":null,"abstract":"<p><strong>Background: </strong>Germline pathogenic variants in the Additional Sex Combs-Like 1 (<i>ASXL1</i>) gene are associated with the neurodevelopmental Bohring-Opitz syndrome and cancers like Wilms' tumours. Bohring-Opitz syndrome is a phenotypically heterogeneous condition characterised by feeding difficulties, syndromic facial abnormalities, abnormal posturing and developmental delays, and it has only been reported in infant/adolescent patients. There are no reported neuromuscular phenotypes associated with <i>ASXL1</i>.</p><p><strong>Case presentation: </strong>A 71-year-old male proband exhibited congenital facial, extraocular, proximal upper limb and generalised/distal lower limb muscle weakness/wasting. This was associated with dysphagia, childhood motor developmental delay, bilateral upper limb tremor and bilateral pes cavus. He demonstrated some features of Bohring-Opitz syndrome including feeding difficulties, microcephaly, micrognathia and anteverted nares but lacked the characteristic posturing. Muscle imaging demonstrated symmetrical lower limb atrophy. His adult age diagnosis is unique among <i>ASXL1</i>-associated conditions. A genetic diagnosis of the <i>ASXL1</i> variant (c.1210C>T; p.Arg404Ter) was achieved through phenotype-driven genetic neurodevelopmental panel testing given some overlap with neurodevelopmental patients following unsuccessful initial genetic sequencing.</p><p><strong>Conclusions: </strong>This expands the phenotype of <i>ASXL1</i> pathogenic variants with a novel and distinct neuromuscular presentation. This case demonstrates the importance of thorough and accurate phenotype for unusual presentations, as this diagnosis was missed through routine genetic testing.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"8 2","pages":"e001540"},"PeriodicalIF":2.6,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13404496/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148609865","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rising burden of Alzheimer's disease and other dementias in Sierra Leone, 1990-2023: analysis of Global Burden of Disease 2023 estimates.","authors":"Mohamed B Jalloh, Gibrilla Fadlu Deen, Omar Bah, Ishmaela Bah, Abdul Aziz Suma, Onome T Abiri, Melvina C Thompson, Edries Tejan, Fatima Jalloh, Foray Mohamed Foray, Monalisa M J Faulkner, Bamba Gaye","doi":"10.1136/bmjno-2025-001507","DOIUrl":"10.1136/bmjno-2025-001507","url":null,"abstract":"<p><strong>Background: </strong>Dementia is an increasing cause of disability and mortality worldwide. Primary dementia surveillance data remain limited in many low-income settings, including Sierra Leone.</p><p><strong>Objective: </strong>To describe trends in Burden of Disease (GBD) 2023 modelled estimates for Alzheimer's disease and other dementias in Sierra Leone from 1990 to 2023, and to decompose the change in estimated deaths into demographic and age-specific mortality components.</p><p><strong>Methods: </strong>We conducted a secondary analysis of GBD 2023 estimates for the cause category 'Alzheimer's disease and other dementias' in Sierra Leone. We analysed estimated counts and age-standardised rates for prevalence, deaths, years of life lost, years lived with disability and disability-adjusted life years (DALYs) stratified by age and sex. Temporal trends were described with log-linear regression to estimate annual per cent change, and a three-component decomposition attributed changes in deaths to population growth, ageing and age-specific mortality.</p><p><strong>Results: </strong>GCD 2023 estimated that dementia deaths in Sierra Leone increased from 188 in 1990 to 474 in 2023, an absolute increase of 286 estimated deaths (152% relative increase). Estimated DALYs increased from 3703 to 7440. The modelled age-standardised death rate rose 26.8% (16.3 to 20.7 per 100 000) and the age-standardised DALY rate 13.4% (293.7 to 333.2 per 100 000). Estimated prevalent cases increased from 5647 to 8887, while the modelled age-standardised prevalence rate declined from 430.7 to 404.0 per 100 000 population. The log-linear annual percentage change was +1.02% for age-standardised death rates, +0.60% for DALY rates and -0.18% for prevalence rates. Decomposition attributed 62% of the increase in estimated deaths to changes in age-specific mortality, 30% to population growth and 8% to population ageing.</p><p><strong>Conclusions: </strong>GBD 2023 estimates show a rising absolute burden of dementia in Sierra Leone, against a background of limited local surveillance and mortality ascertainment.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"8 2","pages":"e001507"},"PeriodicalIF":2.6,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13404408/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148609891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case of Aicardi-Goutières syndrome diagnosed in adulthood on whole-genome sequencing.","authors":"Lewis Cobb, Jayant Kumar, Amit Roy, Sarah Walsh, Una-Marie Sheerin","doi":"10.1136/bmjno-2025-001407","DOIUrl":"10.1136/bmjno-2025-001407","url":null,"abstract":"<p><p><b>Background</b>: Aicardi-Goutières syndrome (AGS) is a neurogenetic leukoencephalopathy that typically manifests within the first 6 months of life. Classically, AGS presents with an early encephalopathic episode characterised by feeding difficulties, irritability and psychomotor regression or delay. Cutaneous lesions affecting the extremities and epilepsy are common, with symptoms usually evolving over weeks to months before stabilising. Milder phenotypes have been described, often demonstrating relative preservation of language and cognitive function. <b>Case presentation</b>: Here, we report a case of a 31-year-old woman with compound heterozygous variants in the <i>ADAR</i> gene: (GRCh38) NM_001111.4:c.577C>G p.(Pro193Ala) and (GRCh38) NM_001111.4:c.1111_1112del p.(Ser371Cysfs*3), consistent with AGS. The developmental history revealed normal early motor milestones. At age 3, she developed progressive ataxia and hypotonia. Over time, she exhibited spasticity, dystonia and learning difficulties, along with significant cardiac valvular calcification. <b>Conclusions</b>: The patient was recently referred for consideration of treatment with baricitinib, a selective JAK1/JAK2 inhibitor. This case underscores the importance of considering AGS in individuals with non-classical presentations, particularly when extracerebral calcification is a notable feature.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"8 2","pages":"e001407"},"PeriodicalIF":2.6,"publicationDate":"2026-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13386073/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148551003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advances in cerebrovascular reserve function assessment for moyamoya disease.","authors":"Siyu Chen, Tianrui Yu, Yuanyuan Xiang, Liang Chen, Hao Liu, Xuezhi Chen, Xianming Cao, Yanghang Chen, Manqing Zhang, Xiaoping Yin, Zhiying Chen","doi":"10.1136/bmjno-2025-001526","DOIUrl":"10.1136/bmjno-2025-001526","url":null,"abstract":"<p><p>Moyamoya disease (MMD) is a rare cerebrovascular disease characterised by gradual progressive stenosis and occlusion of the terminal internal carotid arteries, anterior cerebral arteries and proximal middle cerebral arteries bilaterally. This pathology leads to the formation of a compensatory and fragile collateral vascular network at the brain's base. With disease progression, MMD may result in ischaemic or haemorrhagic stroke. However, the lack of reliable and effective methods to assess disease progression leaves many patients at high risk of stroke without timely clinical intervention. Therefore, determining the disease course and assessing stroke risk are critical. Cerebrovascular reserve (CVR) reflects the ability of brain tissue to increase blood flow under stress. CVR evaluation assists clinicians in understanding MMD severity, guiding therapeutic decisions and determining prognosis. This narrative review analyses recent literature, highlights the advantages and disadvantages of various CVR assessment techniques, and discusses the interplay between CVR and MMD. In addition, it examines the role of CVR in evaluating disease progression and associated treatments.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"8 2","pages":"e001526"},"PeriodicalIF":2.6,"publicationDate":"2026-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13374456/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148473843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deep brain stimulation battery longevity: a cohort study comparing impact of anaesthesia modality and anatomic target.","authors":"Noor Zaghlula, Kelsey Kinsman, Oliver Phillips, Jennifer Hong","doi":"10.1136/bmjno-2026-001632","DOIUrl":"10.1136/bmjno-2026-001632","url":null,"abstract":"<p><strong>Background: </strong>Deep brain stimulation (DBS) treats various movement disorders, though routine battery replacement is required. Factors affecting battery life remain unclear; prior studies implicate programming parameters and device model. Advancements in intraoperative guidance enable DBS placement under general anaesthesia (GA) using direct targeting instead of conscious sedation (Monitored anesthesia care or MAC) using indirect targeting. This study examines the effect of DBS anaesthesia type on IPG battery longevity and other influencing factors.</p><p><strong>Methods: </strong>Retrospective chart review of 254 patients who underwent DBS placement between 2013 and 2023 at a tertiary care centre was completed under an IRB-approved protocol, 217 of whom met inclusion criteria. Using an accelerated failure time (AFT) model, battery longevity was assessed as a function of anaesthesia type, electrode location, stimulation parameters, diagnosis, demographics, Movement Disorder Society Unified Parkinson's Disease Rating Scale part III score (MDS-UPDRS-III) and battery type.</p><p><strong>Results: </strong>DBS implanted with MAC resulted in significantly reduced battery longevity, AFT coefficient=-0.149, 95% CI -0.27 to -0.03 (p<0.05) compared with GA. compared with globus pallidus interna, subthalamic nucleus implantation (AFT coefficient=0.223, 95% CI 0.10 to 0.35, p<0.05) and thalamic ventral intermediate nucleus (VIM) implantation (AFT coefficient=0.134, 95% CI 0.01 to 0.26, p<0.05) were associated with significantly longer battery longevity. High amplitude settings significantly reduced battery longevity, AFT coefficient=-0.167, 95% CI -0.21 to -0.12 (p<0.05). Diagnosis, MDS-UPDRS-III score and battery model effects on IPG battery longevity were not statistically significant.</p><p><strong>Conclusion: </strong>Battery longevity can be optimised by considering anaesthesia type and electrode location during implantation. Improved battery longevity reduces replacement frequency, associated complications and overall healthcare costs.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"8 2","pages":"e001632"},"PeriodicalIF":2.6,"publicationDate":"2026-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13347900/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148426407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-invasive brain stimulation for enhancing dual-task performance in individuals with chronic poststroke hemiparesis: protocol for systematic review and meta-analysis.","authors":"Greco Adan Neblina, Katie Alexandra Schloss, Arliz Serrano Herrera, Jing Nong Liang","doi":"10.1136/bmjno-2025-001472","DOIUrl":"10.1136/bmjno-2025-001472","url":null,"abstract":"<p><strong>Introduction: </strong>Dual-tasking is commonly used to assess functional capacity in neurologically intact and poststroke populations. Stroke survivors often experience significant dual-task deficits due to cognitive-motor interference and neurological impairments that limit mobility and daily participation. Emerging evidence suggests non-invasive brain stimulation (NIBS) may enhance neuroplasticity and improve dual-task performance; however, findings remain limited and inconsistent. This systematic review aims to evaluate the effects of NIBS as a central nervous system priming technique on dual-task performance in individuals poststroke.</p><p><strong>Methods and analysis: </strong>This protocol follows Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols (PRISMA-P) guidelines and is registered with PROSPERO (CRD420250644455). A comprehensive search will be conducted in PubMed (MEDLINE), Embase, Web of Science and Scopus using keywords related to stroke, dual-tasking and NIBS. Reference lists of included studies will also be manually screened. Eligible studies must be randomised controlled trials or crossover designs involving adults poststroke that use NIBS while explicitly evaluating dual-task performance. Two independent reviewers will assess study quality using the Cochrane Risk of Bias tool, with disagreements resolved by a third reviewer. Meta-analysis will be conducted when feasible; otherwise, a narrative synthesis will be provided.This review will clarify current evidence supporting NIBS for improving dual-task motor-cognitive outcomes in stroke rehabilitation and may guide clinical decision-making and future neurorehabilitation research.</p><p><strong>Ethics and dissemination: </strong>Ethical approval is not required because no human participants are involved. Findings will be disseminated through peer-reviewed publications and conference presentations.</p><p><strong>Prospero registration number: </strong>CRD420250644455.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"8 2","pages":"e001472"},"PeriodicalIF":2.6,"publicationDate":"2026-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13343111/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148413663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Refractory epilepsy from lead poisoning.","authors":"Casey Singleton, Wei Kang Yap, Ming Lai, Mark Anderson, Albert Lim","doi":"10.1136/bmjno-2025-001449","DOIUrl":"10.1136/bmjno-2025-001449","url":null,"abstract":"<p><strong>Background: </strong>Lead exposure remains a significant yet under-recognised public health concern in the UK, particularly among vulnerable paediatric populations. Its non-specific, multisystemic involvement and rare neurological presentations make recognition and timely treatment of lead poisoning especially challenging.</p><p><strong>Case presentation: </strong>We report a case of a 6-year-old boy with autism spectrum disorder and pica presenting with new-onset refractory status epilepticus, unresponsive to standard antiepileptic therapy. Diagnostic evaluation demonstrated microcytic anaemia with basophilic stippling on blood film, diffuse cortical changes on MRI and markedly elevated blood lead levels, establishing the diagnosis of acute-on-chronic lead poisoning. Treatment with intravenous sodium calcium edetate and polyethylene glycol bowel irrigation led to progressive clinical improvement and seizure resolution. Serial measurements confirmed a declining lead burden, and the patient was discharged on oral chelation therapy.</p><p><strong>Conclusions: </strong>This case highlights the importance of considering lead toxicity in unexplained encephalopathy or refractory seizures in children, with early recognition to prevent irreversible neurological sequelae.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"8 2","pages":"e001449"},"PeriodicalIF":2.6,"publicationDate":"2026-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13343072/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148413711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Smoking and the risk of neurodegenerative diseases in a Chinese case-control study.","authors":"Jia Nie, Susan Peters, Calvin B Ge, Lützen Portengen, Nathaniel Rothman, Wei Hu, Ruwei Ou, QianQian Wei, Lingyu Zhang, Yanbing Hou, Qing Lan, Hui-Fang Shang, Roel Vermeulen","doi":"10.1136/bmjno-2026-001728","DOIUrl":"10.1136/bmjno-2026-001728","url":null,"abstract":"<p><strong>Background: </strong>While smoking is inversely associated with Parkinson's disease (PD) risk, its relationship with amyotrophic lateral sclerosis (ALS) and multiple system atrophy (MSA) remains unclear, particularly in Asian populations. We investigated these associations in a Chinese case-control study.</p><p><strong>Methods: </strong>We recruited newly diagnosed ALS (n=430), MSA (n=271), PD (n=523) cases and hospital-based controls (n=1033) in Sichuan, China. Logistic regression models were used to evaluate associations between smoking and disease risks, adjusting for demographic, lifestyle and occupational factors.</p><p><strong>Results: </strong>Compared with never-smokers, the adjusted ORs and 95% CIs of ALS for current and former smokers were 1.00 (0.61 to 1.65) and 1.79 (1.01 to 3.17), respectively. For MSA, ORs were 1.27 (0.73 to 2.23) for current smokers and 2.54 (1.41 to 4.60) for former smokers. Individuals who quit within 4 years before diagnosis showed the highest risk of ALS (OR=1.93, 95% CI 0.96 to 3.88) and MSA (OR=2.09, 95% CI 1.11 to 3.93). For both ALS and MSA, no consistent trend was found with increasing smoking duration or pack-years. In contrast, ever-smokers had a significantly lower PD risk (OR=0.49, 95% CI 0.33 to 0.71), particularly current smokers (OR=0.30, 95% CI 0.19 to 0.48). Longer smoking duration and higher cumulative smoking were also linked to PD risk with clear negative exposure-response patterns (P _trend=0.039 and 0.029, respectively).</p><p><strong>Conclusions: </strong>Consistent with findings in non-Asian populations, smoking was inversely associated with PD risks in the Chinese population. For ALS and MSA, we found evidence suggestive of positive relationships with cigarette smoking, but no clear exposure-response relationships were observed.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"8 2","pages":"e001728"},"PeriodicalIF":2.6,"publicationDate":"2026-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13343102/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148413685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inpatient versus outpatient management of bilateral optic nerve head elevation presentation to a tertiary emergency department.","authors":"Mengchen Suo, Johnny Lo, Fred K Chen","doi":"10.1136/bmjno-2025-001364","DOIUrl":"10.1136/bmjno-2025-001364","url":null,"abstract":"<p><strong>Introduction: </strong>Increased accessibility to fundus cameras has changed the referral pattern for patients with suspected bilateral optic nerve head elevation (BONHE) presenting to emergency departments (EDs). We aim to review the management of these patients to streamline the process.</p><p><strong>Methods: </strong>A retrospective review of patients with suspected BONHE referred to a tertiary centre ED between 2017 and 2022. We collected demographics, referral source, clinical assessment, neuroimaging and retinal imaging results. Final diagnosis and treatment outcomes were compared between those managed as inpatients and those managed as outpatients.</p><p><strong>Results: </strong>100 patients were referred to the ED with a suspected BONHE. Most were referred by optometrists (54) or general practitioners (17). 54 were admitted (group A) and 38 were discharged from ED (group B). The remaining eight had incomplete records, transferred out of a public health system or self-discharged. The median duration of stay in the ED was 5 hours (IQR 3.45-6.12). The most common diagnosis for both groups was idiopathic intracranial hypertension (IIH). 47 patients at follow-up had moderate to severe IIH and other significant pathologies. For these patients, vision impairment at presentation is the only statistically significant predictor on multivariate analysis (p=0.03). Based on the final diagnoses, 26 out of 48 patients (54.2%) in group A were diagnosed with IIH, with a median duration from presentation to diagnosis of 2 days (IQR 1-4 days). In group B, 8 out of 29 patients (27.5%) were diagnosed with IIH on follow-up, and the median duration from first presentation to diagnosis was 16.8 days (IQR 5.8-57 days).</p><p><strong>Conclusions: </strong>IIH is the most common diagnosis among ED presentations of suspected BONHE in our study. We proposed a triage system for prompt management of BONHE to optimise triage and timely management of patients in the ED.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"8 2","pages":"e001364"},"PeriodicalIF":2.6,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13330947/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148392431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}