Markéta Češpivová, Martin Lammens, Dana Dumitriu, Herbert Rooijakkers, Lina Daoud
{"title":"Correction to: Pediatric case of a particularly large clear cell meningioma - a case","authors":"Markéta Češpivová, Martin Lammens, Dana Dumitriu, Herbert Rooijakkers, Lina Daoud","doi":"10.1007/s13760-024-02625-7","DOIUrl":"10.1007/s13760-024-02625-7","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"124 5","pages":"1761 - 1761"},"PeriodicalIF":2.0,"publicationDate":"2024-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142103300","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":"Beyond the smile: a systematic review of diagnostic tools for peripheral facial paralysis","authors":"Roberto Tedeschi, Danilo Donati, Federica Giorgi","doi":"10.1007/s13760-024-02630-w","DOIUrl":"10.1007/s13760-024-02630-w","url":null,"abstract":"<div><h3>Background</h3><p>Effective rehabilitation of peripheral facial paralysis (PFP) requires reliable assessment tools. This systematic review aimed to identify and validate instruments used in PFP rehabilitation, categorizing them according to the ICF framework.</p><h3>Methods</h3><p>A comprehensive search was conducted across PubMed, Cinahl, Web of Science, and Scopus up to April 2024. Observational analytical studies and one non-randomized controlled trial that validated tools for assessing PFP were included.</p><h3>Results</h3><p>Thirty-three studies were included, covering twenty different tools. Seventeen tools were related to the \"Structure and Function\" domain, while three addressed \"Activity and Participation.\" The Sunnybrook and House-Brackmann scales were the most extensively studied. The Sunnybrook scale exhibited excellent intra- and inter-rater reproducibility and internal validity, making it suitable for clinical use. The House-Brackmann scale was user-friendly but had limitations in reproducibility and sensitivity to subtle differences, which newer versions like the FNGS 2.0 aimed to address. The FAME scale showed promise by reducing subjective scoring. Computerized tools, such as eFACE and A-FPG, and instruments for lip asymmetry and ocular involvement demonstrated potential but require further validation. The Facial Disability Index and the FaCE Scale were validated for assessing disability and participation restrictions.</p><h3>Conclusion</h3><p>This review identified several validated tools for PFP assessment, with the Sunnybrook and House-Brackmann scales being the most reliable. While emerging tools and computerized programs show promise, they need further validation for routine clinical use. Integrating validated tools into clinical practice is essential for comprehensive assessment and effective rehabilitation of PFP.</p></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"124 6","pages":"1805 - 1822"},"PeriodicalIF":2.0,"publicationDate":"2024-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1007/s13760-024-02630-w.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142091406","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Central nervous system complications during treatment in childhood acute leukemia.","authors":"Arzu Ekici, Bilgen Ayan, Elif Güler Kazancı, Zeynep Beyza Kuşku, Cengiz Gökhan Orcan, Cengiz Havalı, Sevil Dorum, Taha Metin, Betül Biner Orhaner","doi":"10.1007/s13760-024-02602-0","DOIUrl":"https://doi.org/10.1007/s13760-024-02602-0","url":null,"abstract":"<p><strong>Objective: </strong>Central nervous system (CNS) complications can be seen in patients with leukemia, depending on the disease itself and the chemotherapeutic agents used. This study focused on CNS complications during treatment in children with acute leukemia in a single pediatric institution.</p><p><strong>Methods: </strong>CNS complications were evaluated retrospectively in 115 patients with ALL and AML. Patients with CNS leukemia infiltration at the time of diagnosis or during a neurological event, late-onset encephalopathy, peripheral neuropathy, or a previous history of neurological abnormalities were excluded from the study.</p><p><strong>Results: </strong>A total of 115 children's clinical records with acute leukemia over a four-year period were reviewed. Acute CNS complications developed in 23.1% of acute myeloid leukemia (AML) patients and in 13.5% of acute lymphoblastic leukemia (ALL) patients. CNS complications developed most frequently during the induction phase of the treatment (66.7%). Seizures were the most common symptom (9 patients, 50%), followed by hemiparesis (4 patients, 22.2%) and headache (4 patients, 22.2%). Six patients (33.3%) had chemotherapy-induced toxic leukoencephalopathy, two (11.1%) had Wernicke's encephalopathy, and one patient (5.6%) each had sinus vein thrombosis, posterior reversible encephalopathy syndrome, and CNS infection. Sequelae occurred in three patients (16.7%), and only one patient (5.6%) died due to a CNS complication.</p><p><strong>Conclusion: </strong>A wide variety of symptoms can be observed in childhood leukemia, depending on the disease itself, the chemotherapeutic agents used and a lot of other conditions such as nutritional problems. Our research shows that several CNS complications might manifest with similar symptoms; differentiated diagnosis between the underlying etiological reasons can be made by neuroimaging.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142078739","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":"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":"10.1007/s13760-024-02629-3","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"124 6","pages":"2035 - 2037"},"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}
Aslı Yaman Kula, Yağmur Başak Polat, Bahar Atasoy, Mehmet Yiğit, Furkan Kırık, Özge Pasin, Alpay Alkan
{"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":"10.1007/s13760-024-02611-z","url":null,"abstract":"<div><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 <i>SLC13A5</i>. 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 <i>SLC13A5</i> 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></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"124 6","pages":"1959 - 1972"},"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}
Nibu Varghese, Vimal Chandraghosh K D, Deepak Menon, Abdurahiman P, Anoop Kattadimmal, Jubin Mathew, Shobika B S, Nyla Mary Babu
{"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":"10.1007/s13760-024-02617-7","url":null,"abstract":"<div><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></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"124 6","pages":"2029 - 2033"},"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}