Acta neurologica Belgica最新文献

{"title":"Zellweger spectrum disorder presenting with opsoclonus-myoclonus-ataxia syndrome: a case report on immunotherapy.","authors":"Mustafa Kılıç, Harun Yıldız, Bahadır Konuskan","doi":"10.1007/s13760-025-02724-z","DOIUrl":"https://doi.org/10.1007/s13760-025-02724-z","url":null,"abstract":"<p><strong>Introduction: </strong>Zellweger spectrum disorder (ZSD) refers to a group of autosomal recessive genetic disorders that affect multiple organ systems and are predominantly caused by pathogenic variants in PEX genes. ZSD present a wide clinical spectrum, ranging from the most severe form, Zellweger syndrome, to the mildest form, Heimler syndrome.</p><p><strong>Case report: </strong>A 14-month-old male patient was brought to our clinic with recent-onset ocular tremors and unsteady gait. Based on the preliminary suspicion of an infection-related autoimmune disease, the patient received intravenous immunoglobulin (IVIG) and pulse steroid therapy. Although initial clinical improvement was observed in opsoclonus and ataxia, ocular symptoms later recurred. Peroxisomal profile revealed elevated plasma levels of phytanic acid, pristanic acid, and very long-chain fatty acids (C26), raising suspicion for ZSD. Consequently, dietary restrictions for very long-chain fatty acids, phytanic acid, and pristanic acid, along with vitamin supplementation (A, D, E, and K), were initiated. Molecular genetic testing identified a homozygous c.2528G > A, p.(Gly843Asp) pathogenic variant in the PEX1 gene, confirming the diagnosis.</p><p><strong>Conclusion: </strong>Zellweger spectrum disorder presents with a wide range of clinical manifestations. While no effective treatment currently exists, a diet restricted in very long-chain and branched-chain fatty acids, supplementation with vitamins A, D, E, and K, and bile acid therapy are commonly used. In our patient, IVIG and pulse steroid therapy were administered due to a preliminary suspicion of an autoimmune process, resulting in a short-term partial clinical response. To our knowledge, the use of immunotherapy in ZSD has not been previously reported in the literature.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142998318","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":"A case of fatal cerebral air embolism in a patient with Osler-Weber-Rendu Disease.","authors":"Aude Mahaux, Madeleine Scrivener, Susana Ferrão-Santos, Ludovic Gérard, João Pinto Pereira","doi":"10.1007/s13760-025-02726-x","DOIUrl":"https://doi.org/10.1007/s13760-025-02726-x","url":null,"abstract":"<p><p>Osler-Weber-Rendu syndrome, or hereditary hemorrhagic telangiectasia (HHT), is a rare vascular disorder characterized by arteriovenous malformations (AVMs) in various organs, including the lungs^[1]. Pulmonary AVMs (PAVMs) are especially worrisome due to their potential to form right-to-left shunts, resulting in life-threatening complications such as paradoxical embolism and stroke ^{[5] [6] [7]}. We present a case of fatal air embolism in a young patient with a known history of HHT and recurring hemoptysis.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142998312","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":"The combination of central vein sign, cortical lesions, and paramagnetic rim lesions for differentiating MOGAD from MS: a case report.","authors":"Serena Borrelli, Pietro Maggi","doi":"10.1007/s13760-024-02717-4","DOIUrl":"https://doi.org/10.1007/s13760-024-02717-4","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142998315","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":"Clinical and radiological characteristics of calcified cerebral embolism: a large case series including 242 calcified cerebral embolism.","authors":"Yassine Serghine, Sabine Laurent-Chabalier, Eric Thouvenot, Teodora Parvu, Dimitri Renard","doi":"10.1007/s13760-025-02719-w","DOIUrl":"https://doi.org/10.1007/s13760-025-02719-w","url":null,"abstract":"<p><strong>Introduction: </strong>Radiological calcified cerebral embolism (CCE) characteristics have been reported in small case series. Our aim was to describe clinical and radiological CCE characteristics in a large number of CCE and to compare characteristics between different patient groups.</p><p><strong>Methods: </strong>Characteristics of 79 stroke patients with CCE were analyzed retrospectively. Clinical characteristics included demographics, cardiovascular risk factors, stroke history, history of surgical/endovascular cardiovascular intervention, NIHSS on admission, stroke etiology, and presumed CCE source. Radiological characteristics included CCE diameter, density, number, involved cerebral artery and segment, and CCE distribution.</p><p><strong>Results: </strong>A total of 242 CCE were analyzed in 79 patients (median age 79, 56% men). Presumed CCE source was vascular in 54%, mixed vascular/cardiac in 32%, and undetermined in 14%. Median CCE diameter was 1.55 mm and median density 146HU. Multiple CCE were observed in 34% of patients. The middle cerebral artery was the most frequently (84%) involved artery. CCE predominantly involved distal segments. Single uniterritorial, multiple uniterritorial, and multiterritorial CCE were observed in 63%, 22%, and 15% of patients respectively. Patients with combined vascular/cardiac CCE source were older compared with patients with vascular CCE source (p = 0.0135). Correlation coefficient between CCE diameter and density was 0.69. Clinical characteristics were similar between the groups with single uniterritorial, multiple uniterritorial, and multiterritorial CCE, apart from diabetes (p = 0.0076). Concerning radiological characteristics, median diameter and density differed between these three groups (p = 0.0029 and p = 0.0035, respectively). CCE diameter was larger (p < 0.0001) and density higher (p < 0.0001) when CCE involved proximal arterial segments.</p><p><strong>Conclusion: </strong>Clinical and radiological characteristics of CCE patients and CCE are variable. CCE diameter and density and presence of diabetes history differed between CCE patients with single uniterritorial, multiple uniterritorial, and multiterritorial CCE.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142982381","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":"Ocular Myasthenia gravis: what predicts secondary generalization?","authors":"Prateek Kumar Panda, Indar Kumar Sharawat","doi":"10.1007/s13760-025-02720-3","DOIUrl":"https://doi.org/10.1007/s13760-025-02720-3","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142982383","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":"Preliminary observations in cortical excitability changes using transcranial magnetic stimulation (TMS), it's correlation with diffusion tensor imaging (DTI) in subjects with neuromyelitis optica spectrum disorder (NMOSD).","authors":"R S Shaik, V H Ganaraja, A Bhattacharya, Manoj Kumar, L K Nitish, M Bhat, P K Pal, A Mahadevan, M Netravathi","doi":"10.1007/s13760-025-02718-x","DOIUrl":"https://doi.org/10.1007/s13760-025-02718-x","url":null,"abstract":"<p><strong>Background: </strong>Neuromyelitis optica spectrum disorder (NMOSD) is a relapsing central nervous system disease most commonly associated with aquaporin-4 antibodies (AQP4-Ab) and Myelin oligodendrocyte glycoprotein (MOG) antibodies. These demyelinating disorders influence cortical excitability, which has been studied using advanced imaging techniques and transcranial magnetic stimulation (TMS) in our study.</p><p><strong>Methods: </strong>This is a prospective study of 30 subjects. Ten subjects, each of AQP4, MOGAD, and dual seronegative (SN)-NMOSD, were recruited and compared to 30 healthy controls. All the subjects underwent TMS and MRI with diffusion tensor imaging (DTI). Resting motor threshold (RMT), central motor conduction time (CMCT), ipsilateral (ISP) and contralateral silent period (cSP), short interval intracortical inhibition (SICI) and intracortical facilitation (ICF) were the TMS parameters assessed. Fractional anisotropy (FA) and axial diffusivity (AD) were the DTI parameters studied. DTI findings were correlated with the TMS parameters.</p><p><strong>Results: </strong>The study cohort had a male-to-female ratio of (M: F) = 13:17. RMT was highest in the AQP4-Ab subgroup (40.2 ± 11.9%) compared to SN NMOSD (36.2 ± 4.6%) and MOGAD (34.5 ± 6.7%). CMCT was maximum prolonged in subjects with MOGAD (9.6 ± 1.9 msec). The cSP was reduced in MOGAD (79.9 ± 36.3msec). SICI was lowest in the AQP4-Ab subgroup (1.27 ± 1.12) and was preserved in the MOGAD subgroup (0.88 ± 0.55). The DTI data demonstrated statistically significant, reduced FA and AD in AQP4-Ab and SN NMOSD subjects.</p><p><strong>Conclusion: </strong>This is the first study that looked at the cortical excitability changes in the three subgroups of NMOSD. It has been observed that AQP4 NMOSD and SN NMOSD had a severe form of demyelinating disease compared to MOGAD.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142968939","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":"Advancements in diagnosing Post-concussion Syndrome: insights into epidemiology, pathophysiology, neuropathology, neuroimaging, and salivary biomarkers.","authors":"Ioannis Mavroudis, Foivos Petridis, Alin Ciobica, Fatima Zahra Kamal, Manuela Padurariu, Dimitrios Kazis","doi":"10.1007/s13760-024-02695-7","DOIUrl":"https://doi.org/10.1007/s13760-024-02695-7","url":null,"abstract":"<p><p>Post-Concussion Syndrome (PCS) represents a complex constellation of symptoms that persist following a concussion or mild traumatic brain injury (mTBI), with significant implications for patient care and outcomes. Despite its prevalence, diagnosing PCS presents considerable challenges due to the subjective nature of symptoms, the absence of specific diagnostic tests, and the overlap with other neurological and psychiatric conditions. This review explores the multifaceted diagnostic challenges associated with PCS, including the heterogeneity of symptom presentation, the limitations of current neuroimaging techniques, and the overlap of PCS symptoms with other disorders. We also discuss the potential of emerging biomarkers and advanced imaging modalities to enhance diagnostic accuracy and provide a more objective basis for PCS identification. Additionally, the review highlights the importance of a multidisciplinary approach in the diagnosis and management of PCS, integrating clinical evaluation with innovative diagnostic tools to improve patient outcomes. Through a comprehensive analysis of current practices and future directions, this review aims to shed light on the complexities of PCS diagnosis and pave the way for improved strategies in the identification and treatment of this condition.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142942404","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":"No single treatment modality exhibits clear superiority for infantile spasms syndrome: insights from a retrospective cohort study.","authors":"Loes Laurijssen, Katrien Jansen, Lieven Lagae","doi":"10.1007/s13760-024-02713-8","DOIUrl":"https://doi.org/10.1007/s13760-024-02713-8","url":null,"abstract":"<p><strong>Background: </strong>Infantile spasms syndrome is a severe form of infantile epilepsy. It is commonly treated with hormonal therapies or vigabatrin, either alone or in combination. This study aimed to assess the efficacy of these treatment modalities and explore associations with aetiology, and pre-existing developmental delay.</p><p><strong>Methods: </strong>Patients diagnosed with and treated for infantile spasms syndrome at the University Hospital of Leuven between 1 January 2018 and 23 November 2022, were identified. Retrospective clinical data were analysed descriptively. Short-term and long-term outcomes determined the efficacy of the current treatments, with seizure freedom and sustained normal development at 6 and 12 months after treatment initiation as primary treatment goals.</p><p><strong>Results: </strong>The study included 26 patients. No single treatment modality demonstrated clear superiority in terms of both short-term and long-term outcomes. Patients with unknown aetiology showed better developmental outcomes after 12 months than those with proven aetiology (30.77% with normal development versus 7.69%.) Another clear difference in treatment efficacy emerged between patients with and without pre-existing developmental issues, with only 6.67% achieving normal development after 12 months compared to 36.36%, respectively.</p><p><strong>Conclusion: </strong>No single treatment modality demonstrated clear superiority. Associations were found between treatment efficacy and aetiology as well as pre-existing developmental delay, suggesting these as potential prognostic indicators.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909157","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":"Statins as potential disease-modifying therapy of Parkinson's disease: a systematic review and meta-analysis with trial sequential analysis.","authors":"Ocílio Ribeiro Gonçalves, Arquimedes Barros Nascimento, Victor Gonçalves Soares, David Abraham, Gabriel de Almeida Monteiro, João Luís Reis Freitas, Jonatas Paulino da Cunha Monteiro Ribeiro, Bianca Leal Ribeiro, João Victor Araújo de Oliveira, Marco Antonnio Rocha Dos Santos, João Paulo Mota Telles, Flávio Sekeff-Sallem, Kelson James Almeida","doi":"10.1007/s13760-024-02709-4","DOIUrl":"https://doi.org/10.1007/s13760-024-02709-4","url":null,"abstract":"<p><strong>Background: </strong>Recent evidence indicates that statins have anti-inflammatory and antioxidant effects, leading to several investigations of whether statins have a neuroprotective effect and may benefit patients with Parkinson's disease (PD). However, the potential mechanisms of this class of medications as modifiers of the course of PD in already diagnosed patients is still unclear.</p><p><strong>Objectives: </strong>To assess the effectiveness of statins as modifiers of established PD.</p><p><strong>Methods: </strong>Two investigators systematically searched for randomized clinical trials and observational studies comparing PD patients treated with statins versus those treated without statins. The search was conducted in PubMed, Embase, Cochrane, and Web of Science. The outcome of interest was the change in the MDS-UPDRS III (Movement Disorder society-Unified Parkinson's Disease Rating Scale Part III) and UPDRS III scores from baseline. Statistical analysis was performed using R Studio 4.3.2.</p><p><strong>Results: </strong>Four studies, totaling 472 patients, were included. The standardized mean difference for the MDS-UPDRS Part III and UPDRS Part III scales between statin and non-statin groups was - 0.13 (95% CI - 0.44 to 0.17; p = 0.39; I² = 58%), and there was no statistical significant difference regarding this outcome.</p><p><strong>Conclusion: </strong>There was no statistical significance for the potential clinical benefit of statins as modifiers of the disease course in PD patients.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909195","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":"Clinical features and prognosis of transient global amnesia in Israel: 6 years' single-center experience.","authors":"Ido Gindes, Itzhak Kimiagar, Shlomi Peretz, Gilad Kenan","doi":"10.1007/s13760-024-02703-w","DOIUrl":"https://doi.org/10.1007/s13760-024-02703-w","url":null,"abstract":"<p><strong>Background: </strong>Transient global amnesia (TGA) is a benign neurological syndrome of unknown etiology, causing sudden anterograde amnesia that lasts up to 24 h. During the episode of TGA, other cognitive functions are normal. This is the first study describing the characteristics of the disease in Israel.</p><p><strong>Methods: </strong>A retrospective review of all patients with a confirmed diagnosis of TGA at Shamir Medical Center (SMC) between January 2016 and December 2021.</p><p><strong>Results: </strong>One-hundred and four patients with confirmed TGA were identified, with an average age of 64 years (range: 39-87). The annual incidence of TGA was 2.52 per 100,000 and 6.96 per 100,000 among those over 50, with a slight female predominance. The recurrence rate was 11.5%. 61.5% of patients had one or more cerebrovascular risk factors. A precipitating factor was described in 30.8% of cases, with emotional stress, Valsalva maneuver and sexual intercourse being the most prevalent. Chronic ischemic changes were the most common imaging abnormality. Focal slowing was found in nine patients, and epileptic activity was found in four patients.</p><p><strong>Conclusions: </strong>In this study, we showed that patient characteristics and clinical features of TGA patients in Israel were similar to those described in other reports worldwide. We were unable to demonstrate a specific risk factor or a causative agent. Interestingly, the annual incidence in Israel was lower than in other countries.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909127","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}