Acta neurologica Belgica最新文献

{"title":"Defining the clinical phenomenology of Hemifacial Spasm as the presenting feature of idiopathic intracranial hypertension: case report and literature review.","authors":"Shreyashi Jha, Santosh Kumar Pendyala","doi":"10.1007/s13760-024-02629-3","DOIUrl":"https://doi.org/10.1007/s13760-024-02629-3","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142054627","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":"Acute disseminated encephalomyelitis following herpesvirus encephalitis in an adult: a case report.","authors":"Yuya Kobayashi, Kazuki Kasuga, Yusaku Shimizu","doi":"10.1007/s13760-024-02623-9","DOIUrl":"https://doi.org/10.1007/s13760-024-02623-9","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142054626","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":"Respiratory functions, respiratory muscle strength and fatigue in patients with pediatric-onset multiple sclerosis: a comparative cross-sectional study.","authors":"Pelin Vural, Buket Akinci, Serhat Guler, Sema Saltik, Yonca Zenginler Yazgan","doi":"10.1007/s13760-024-02628-4","DOIUrl":"https://doi.org/10.1007/s13760-024-02628-4","url":null,"abstract":"<p><strong>Purpose: </strong>To compare PwPOMS and healthy controls in terms of respiratory functions, respiratory muscle strength, and fatigue, and investigate the determining role of fatigue on respiratory parameters.</p><p><strong>Methods: </strong>Twenty-five PwPOMS and 15 healthy controls were included in the study. Maximum inspiratory pressure (MIP) and expiratory pressures (MEP) were measured. Respiratory functions were evaluated using spirometry, and predicted values were recorded for FEV1, FVC, FEV1/FVC, and PEF. Fatigue levels were assessed using the Pediatric Quality of Life Inventory Multidimensional Fatigue Scale (PedsQL-MFS).</p><p><strong>Results: </strong>The FEV1%pred (p = 0.022), PEF%pred (p = 0.003), MIP (p = 0.001), and MEP (p = 0.019), cognitive fatigue self-reported score of PedsQL-MFS (p = 0.037), sleep-rest fatigue (p = 0.034), cognitive fatigue (p = 0.010), and total score (p = 0.005) of PedsQL-MFS Proxy Report were significantly decreased in PwPOMS compared with their healthy peers. Regression analysis showed that the general fatigue of self-reported PedsQL-MFS was a determinator for FEV1%pred (β= -0.467) and PEF% (β= -0.553), and total score PedsQL-MFS was a determinator for FEV1/FVC %pred (β= -0.599).</p><p><strong>Conclusion: </strong>PwPOMS had decreased respiratory muscle strength, FEV1, and PEF, with preserved FEV1/FVC and higher fatigue levels than their healthy peers. In addition, self-reported fatigue had a determining role in respiratory functions but not respiratory muscle strength in PwPOMS. This trial is registered on ClinicalTrials.gov under \"NCT05123924\" available at: https://clinicaltrials.gov/ct2/show/NCT05123924 .</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142016011","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":"Non-invasive estimation of cerebrospinal fluid pressure in idiopathic intracranial hypertension: magnetic resonance imaging analysis of optic nerve and eyeball.","authors":"Aslı Yaman Kula, Yağmur Başak Polat, Bahar Atasoy, Mehmet Yiğit, Furkan Kırık, Özge Pasin, Alpay Alkan","doi":"10.1007/s13760-024-02620-y","DOIUrl":"https://doi.org/10.1007/s13760-024-02620-y","url":null,"abstract":"<p><strong>Purpose: </strong>Invasive methods such as lumbar puncture and intraventricular catheters are commonly used to measure intracranial pressure (ICP). This study aims to develop quantitative and non-invasive techniques to measure ICP in patients with Idiopathic Intracranial Hypertension (IIH) using magnetic resonance imaging (MRI) findings.</p><p><strong>Methods: </strong>MRI data obtained from 50 patients with IIH and 30 age- and sex- matched controls were analyzed and optic nerve sheath diameter (ONSD), eyeball transverse diameter (ETD) and optic nerve diameter (OND) were measured. ONSD, ONSD/ETD and OND/ONSD indexes were calculated according to different ONSD measurement distances. Correlations of MRI findings with ICP were calculated. Sensitivity and specificity of all methods were analyzed.</p><p><strong>Results: </strong>ONSD and ONSD/ETD index at 3 mm and 10 mm behind the eyeball were significantly higher (p < 0.001) and OND/ONSD index at 3 mm behind the eyeball was significantly lower (p < 0.001) in the IIH group. The ONSD/ETD index at 3 mm had the highest area under the curve (AUC) value (0.898) with a cut-off of 0.27 mm (82% sensitivity and 91.67% specificity) for predicting high cerebrospinal fluid (CSF) pressure, followed by ONSD measurements at 3 mm (AUC = 0.886) with a cut-off of 6.17 mm (83% sensitivity and 86.67% specificity). The OND/ONSD index at 3 mm posterior to the eyeball decreased significantly as ICP increased, and the strength of the relationship was moderate (p < 0.001; r = -0.358).</p><p><strong>Conclusions: </strong>ONSD and ONSD/ETD index measured on MRI sequences are potentially useful in detecting elevated ICP. The OND/ONSD index correlates with CSF pressure and these techniques may be helpful in diagnosing IIH.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141987143","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":"Unraveling neuroimaging insights in developmental epileptic encephalopathy type 25: a comprehensive review of reported cases and a novel SLC13A5 variant.","authors":"Mohammad Farid Mohammadi, Sahand Tehrani Fateh, Maedeh Ganji, Pouria Mohammadi, Tayyeb Bahrami, Mahmoud Reza Ashrafi, Sareh Hosseinpour, Morteza Heidari, Masoud Garshasbi, Ali Reza Tavasoli","doi":"10.1007/s13760-024-02611-z","DOIUrl":"https://doi.org/10.1007/s13760-024-02611-z","url":null,"abstract":"<p><p>Developmental and epileptic encephalopathy type 25 with amelogenesis imperfecta (DEE25) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous disease-causing variants in the SLC13A5. These variants can disrupt energy production and delay brain development, leading to DEE25. Key symptoms include refractory seizures, often manifesting in neonates or infants, alongside global developmental delay, intellectual disability, progressive microcephaly, ataxia, spasticity, and speech difficulties. Dental anomalies related to amelogenesis imperfecta are common. Previous studies have typically reported normal or minimally altered early-life brain magnetic resonance imaging (MRI) findings in DEE25. However, our investigation identified a homozygous splice donor variant (NM_177550.5: c.1437 + 1G >T) in SLC13A5 through whole-exome sequencing in two affected siblings (P1 and P2). They displayed developmental delay, cerebral hypotonia, speech delay, recurrent seizures, mild but constant microcephaly, and motor impairments. Significantly, P1 exhibited novel findings on brain magnetic resonance imaging at age 5, including previously unreported extensive persistent hypomyelination. Meanwhile, P2 showed substantial loss of cerebral white matter in the frontoparietal region and delayed myelination at 18 months old. These discoveries broaden the DEE25 imaging spectrum and highlight the clinical heterogeneity even within siblings sharing the same variants.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141987144","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":"Neck extensor myopathy- a treatable cause of dropped head syndrome.","authors":"Nibu Varghese, Vimal Chandraghosh K D, Deepak Menon, Abdurahiman P, Anoop Kattadimmal, Jubin Mathew, Shobika B S, Nyla Mary Babu","doi":"10.1007/s13760-024-02617-7","DOIUrl":"https://doi.org/10.1007/s13760-024-02617-7","url":null,"abstract":"<p><p>Dropped head syndrome (DHS) is characterized by a passively correctable chin-on-neck deformity inerect posture and can stem from a wide variety of neurological disorders spanning the neuraxis. Neuromuscular disorders account for a major chunk of DHS and include disease of anterior horn celldiseases, polyradiculopathies and cervical plexopathies, disease of neuromuscular junction andmyopathies. Isolated DHS without additional neurological features poses a management challenge, particularly because the symptoms can signifi cantly impact the patient's quality of life and may notalways respond to treatment..(Ref)Here we present a patient with isolated DHS with evaluation revealingisolated next extensor myopathy with remarkable response to treatment. Although isolated neckextensor myopathy typically exhibit poor immunomodulatory response, timely identifi cation and earlyintervention probably can lead to a favourable outcome in a subgroup of patients.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141970391","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":"Acquired idiopathic generalized anhidrosis (AIGA) associated with SARS-CoV-2 infection.","authors":"Hye Ryung Kwon, Dae Woong Bae, Jae Young An","doi":"10.1007/s13760-024-02622-w","DOIUrl":"https://doi.org/10.1007/s13760-024-02622-w","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141915840","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":"Cochlear hemorrhage in a patient with pneumococcal meningitis.","authors":"Teresa Perillo, Raffaella Capasso, Antonio Pinto","doi":"10.1007/s13760-024-02624-8","DOIUrl":"https://doi.org/10.1007/s13760-024-02624-8","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141915841","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":"L-serine treatment in a patient with refractory epilepsy due to a GRIN2A missense mutation.","authors":"Hui Jin Shin, Ara Ko, Se Hee Kim, Hoon-Chul Kang, Joon Soo Lee","doi":"10.1007/s13760-024-02616-8","DOIUrl":"https://doi.org/10.1007/s13760-024-02616-8","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141892597","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":"Predictors of spontaneous intracerebral hemorrhage mortality: a community-based study in Brno, Czech Republic.","authors":"Albert Sterba, Petra Sedova, Robert D Brown, Albert Stehlik, Tomas Bryndziar, Petra Cimflova, Miroslav Zvolsky, Silvie Belaskova, Ingrid Kovacova, Josef Bednarik, Robert Mikulík","doi":"10.1007/s13760-024-02612-y","DOIUrl":"https://doi.org/10.1007/s13760-024-02612-y","url":null,"abstract":"<p><strong>Background and objective: </strong>Intracerebral hemorrhage (ICH) is a serious medical condition with high mortality. However, factors leading to long-term mortality after ICH are largely unclear. The aim of this community-based study is to assess predictors of long-term mortality after spontaneous ICH.</p><p><strong>Methods: </strong>We identified all patients admitted with spontaneous ICH to hospitals with a certified stroke unit in Brno, the second largest city in the Czech Republic (CR), in 2011, the year of the Czech Population and Housing Census. We reviewed their medical records for risk factors, radiographic parameters, and measures of post-stroke neurological deficit [National Institutes of Health Stroke Scale (NIHSS)]. Using the dates of death from the Czech National Mortality Register, we calculated mortality at 30 days, six months, one year, and three years after the ICH. Multivariate analysis with forward stepwise logistic regression was performed to determine independent predictors of mortality (p < 0.05).</p><p><strong>Results: </strong>In 2011, 1086 patients with stroke were admitted to the four stroke-certified hospitals in Brno, CR. Of these, 134 had spontaneous ICH, with complete data available in 93 of them entering the final analysis. The mortality at 30 days, 6 months, 1 year, and 3 years post-ICH was 34%, 47%, 51%, and 63%, respectively. The mortality was highest in the first few days post-event, with 50% of patients dying in 255 days and average survival being 884 ± 90 days. Both NIHSS and modified ICH (MICH) score showed to be strong and reliable predictors of short- as well as long-term mortality; the risk of death post-ICH increased with older age and size of ICH. Other risk factors contributing to higher, primarily shorter-term mortality included history of cardiac failure, myocardial infarction, or atrial fibrillation.</p><p><strong>Conclusions: </strong>In our community-based study, we found that severity of neurological deficit at admission (NIHSS), combined with age and size of ICH, well predicted short- as well as long-term mortality after spontaneous ICH. A history of cardiac failure, myocardial infarction, or atrial fibrillation at presentation were also predictors of mortality, underscoring the need for optimal cardiac management in patients with ICH.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141888142","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}