Infratentorial Lesions Research Articles

Early Disease-Modifying Treatments for Presymptomatic Multiple Sclerosis.

Radiologically isolated syndrome (RIS) is the earliest stage in the disease continuum of multiple sclerosis (MS). RIS is discovered incidentally in individuals who are asymptomatic but have typical lesions in the brain and/or spinal cord suggestive of demyelination. The2009 and revised 2023 RIS criteria weredeveloped for diagnosis.Presymptomatic individuals who fulfill the 2009 RIS criteria by having 3-4 of 4 dissemination in spaceMcDonald 2005 MS criteria are still diagnosed with RIS using therevised 2023 RIS criteria.Inpresymptomatic individuals who do not fulfill the 2009 RIS criteria, the revised 2023 RIS criteria target to secure an accurate and timely diagnosis: In addition to (a) having one lesion in two of four locations (periventricular, juxtacortical/cortical, infratentorial, spinal cord), (b) two of three features (spinal cord lesion, cerebrospinal fluid (CSF)-restricted oligoclonal bands, and new T2 or gadolinium-enhancing lesion) should be fulfilled. Among laboratory biomarkers,CSF kappa-free light chain can also increase diagnostic accuracy. Once the diagnosis is confirmed, the established risk factors, including demographics, imaging, and laboratory biomarkers, should be evaluated for symptomatic MS transition and prognosis. Younger age, male sex, increased neurofilament-light chain, CSF abnormality, and the presence of infratentorial, spinal cord, or gadolinium-enhancing lesions on imaging are the main risk factors for transition to symptomatic MS. Two randomized clinical trials showed significant efficacy of disease-modifying treatments in delaying or preventing the development of the first clinical event in RIS. However, because some individuals remain as RIS, it is crucial to identify the individuals with a higher number of risk factors to optimize disease outcomes by early intervention while minimizing adverse events. Discussing each RIS case with an expert MS team is recommended because there is still a lack of clinical guidelines to improve care, counseling, and surveillance.

Non-contrast magnetic resonance evaluation of active multiple sclerosis lesions: Emerging role of quantitative synthetic magnetic resonance imaging.

The current study aims to explore the utility of novel synthetic MRI-derived quantitative parameters including myelin-correlated volume (MyC) in identifying active MS lesions without injecting gadolinium contrast. 43 MS patients underwent institutional MS protocol including 3D FLAIR and post-contrast 3D T1VIBE sequence on a 1.5T MR Scanner in addition to synthetic MRI sequence. MS plaques were categorised into enhancing (C) and non-enhancing (N) lesions. They were also sub-categorised based on location into periventricular WM lesions (P), deep WM lesions (D), infratentorial lesions (I) and cortical-juxtacortical (C) lesions. ROIs were placed on Synthetic FLAIR images in MS lesions and quantitative parameters of R1, R2, PD and myelin-correlated volume (MyC) obtained. Sensitivity and specificity for various cut-off values to differentiate enhancing from non-enhancing multiple sclerosis lesions were calculated by performing ROC curve analysis and logistic regression analysis. Contrast enhancing lesions demonstrated significantly higher mean R1, R2 values and lower mean PD values in comparison to non-enhancing lesions (p < 0.05) but with limited specificity. Region-wise analysis revealed high AUC values for mean R1 and R2 at cortical-juxtacortical lesions (p < 0.001) followed by periventricular lesions (p < 0.003) for differentiating enhancing from non-enhancing lesions with no significant contribution from MyC and PD values. Synthetic MRI-derived quantitative parameters of mean R1, R2, MyC and PD hold value in differentiating contrast enhancing and non-enhancing MS lesions without administering gadolinium-based contrast agent. However, the current study did not achieve significant specificity for establishing the same.

The evolving contribution of MRI measures towards the prediction of secondary progressive multiple sclerosis

BackgroundIn multiple sclerosis (MS), both lesion accrual and brain atrophy predict clinical outcomes. However, it is unclear whether these prognostic features are equally relevant throughout the course of MS. Among...

Rare case of tentorial cavernous malformation mimicking a meningioma: illustrative case.

Cavernous malformations of the dura, especially of the tentorium, are exceedingly rare. In the available literature, only 10 cases have been described to date. The authors present the case of a 46-year-old male patient with a 1-cm infratentorial lesion suspicious for meningioma that was found on routine magnetic resonance imaging (MRI) performed for vertigo. The lesion was followed for 1.5 years with no change in signal and size. Nevertheless, the patient was concerned about the lesion and requested removal. The removal was successful and without any neurological sequelae. However, histological evaluation demonstrated a cavernous malformation. Postoperative computed tomography and MRI showed complete removal. Preoperative MRI characteristics, intraoperative images, and a video, as well as histological evaluation, are shown. The case is discussed with respect to the literature. Cavernous malformations of the tentorium are extremely rare and mimic meningiomas; thus, they need to be taken into account. DOTATOC positron emission tomography may help to differentiate in these cases. Considering the cases reported in the literature, in cases of large tumors, preoperative angiography and possibly embolization may be helpful. https://thejns.org/doi/10.3171/CASE24168.

Low-Field (64 mT) Portable MRI for Rapid Point-of-Care Diagnosis of Dissemination in Space in Patients Presenting with Optic Neuritis.

Low-field 64 mT portable brain MRI has recently shown diagnostic promise for MS. This study aimed to evaluate the utility of portable MRI (pMRI) in assessing dissemination in space (DIS) in patients presenting with optic neuritis and determine whether deploying pMRI in the MS clinic can shorten the time from symptom onset to MRI. Newly diagnosed patients with optic neuritis referred to a tertiary academic MS center from July 2022 to January 2024 underwent both point-of-care pMRI and subsequent 3T conventional MRI (cMRI). Images were evaluated for periventricular (PV), juxtacortical (JC), and infratentorial (IT) lesions. DIS was determined on brain MRI per 2017 McDonald criteria. Test characteristics were computed by using cMRI as the reference. Interrater and intermodality agreement between pMRI and cMRI were evaluated by using the Cohen κ. Time from symptom onset to pMRI and cMRI during the study period was compared with the preceding 1.5 years before pMRI implementation by using Kruskal-Wallis with post hoc Dunn tests. Twenty patients (median age: 32.5 years [interquartile range {IQR}, 28-40]; 80% women) were included, of whom 9 (45%) and 5 (25%) had DIS on cMRI and pMRI, respectively. Median time interval between pMRI and cMRI was 7 days (IQR, 3.5-12.5). Interrater agreement was very good for PV (95%, κ = 0.89), and good for JC and IT lesions (90%, κ = 0.69 for both). Intermodality agreement was good for PV (90%, κ = 0.80) and JC (85%, κ = 0.63), and moderate for IT lesions (75%, κ = 0.42) and DIS (80%, κ = 0.58). pMRI had a sensitivity of 56% and specificity of 100% for DIS. The median time from symptom onset to pMRI was significantly shorter (8.5 days [IQR 7-12]) compared with the interval to cMRI before pMRI deployment (21 days [IQR 8-49], n = 50) and after pMRI deployment (15 days [IQR 12-29], n = 30) (both P < .01). Time from symptom onset to cMRI in those periods was not significantly different (P = .29). In patients with optic neuritis, pMRI exhibited moderate concordance, moderate sensitivity, and high specificity for DIS compared with cMRI. Its integration into the MS clinic reduced the time from symptom onset to MRI. Further studies are warranted to evaluate the role of pMRI in expediting early MS diagnosis and as an imaging tool in resource-limited settings.

Charcot-Marie-Tooth Type 2 Disease and Relapsing Remitting Multiple Sclerosis Coexistence

Multiple sclerosis (MS) and Charcot-Marie-Tooth disease (CMT) association has been reported, namely in CMTX and CMT1A. A 37-year-old woman with CMT type 2 (MFN2 mutation) developed subacute brainstem syndrome (left internuclear ophthalmoplegia, facial palsy and ataxia). Brain magnetic resonance imaging revealed infratentorial, periventricular and subcortical lesions, typical of MS (positive CSF oligoclonal bands, negative anti-aquaporin 4 and anti-MOG antibodies). Patient underwent natalizumab, reaching NEDA-3 – no evidence of disease activity - (3-years follow-up). Patients with MFN2 mutations may disclose optic atrophy and periventricular white matter T2 signal changes mimicking MS. Notwithstanding, this is, probably, the first report of proven concomitance between both conditions.

Infratentorial Cerebral Cavernous Malformation May be a Risk Factor for Symptomatic Bleeding and Precocity of Symptoms: A Multicenter, Propensity Score Matched, Case-Control Study.

Cerebral Cavernous Malformation (CCM) is one of the most common types of vascular malformation of the central nervous system. Intracerebral hemorrhage, seizures, and lesional growth are the main clinical manifestations. Natural history studies have tried to identify many risk factors; however, the clinical course remains highly unpredictable. Here, we have analyzed a multicenter CCM cohort looking for the differential clinical data regarding the patients harboring supra and/or infratentorial cavernous malformations in order to better understand risk factors involved in the anatomical location of the unique neurosurgical disease. We have presented a multicenter, Propensity Score Matched (PSM), case-control study including 149 consecutive CCM cases clinically evaluated from May 2017 to December 2022 from three different neurosurgical centers. Epidemiological data were defined at each clinical assessment. Logistic regression was used to identify the independent contribution of each possible risk factor to the bleeding risk. To balance baseline covariates between patients with and without symptoms, and specifically between those with and without symptomatic bleeding, we used a PSM strategy. The Kaplan-Meier curve was drawn to evaluate if patients with infratentorial lesions had a greater chance of bleeding earlier in their life. The presence of infratentorial lesions was a risk factor in the multivariate analysis comparing the bleeding risk with pure asymptomatic individuals (OR: 3.23, 95% CI 1.43 - 7.26, P = 0.005). Also, having an infratentorial CCM was a risk factor after PSM (OR: 4.56, 95% CI 1.47 - 14.10, P = 0.008). The presence of an infratentorial lesion was related to precocity of symptoms when the time to first bleed was compared to all other clinical presentations in the overall cohort (P = 0.0328) and in the PSM group (P = 0.03). Here, we have provided some evidence that infratentorial cerebral cavernous malformation may have a more aggressive clinical course, being a risk factor for symptomatic haemorrhage and precocity of bleeding.

Predicting the conversion from clinically isolated syndrome to multiple sclerosis: An explainable machine learning approach

IntroductionPredicting the conversion of clinically isolated syndrome (CIS) to clinically definite multiple sclerosis (CDMS) is critical to personalizing treatment planning and benefits for patients. The aim of this study is to develop an explainable machine learning (ML) model for predicting this conversion based on demographic, clinical, and imaging data. MethodThe ML model, Extreme Gradient Boosting (XGBoost), was employed on the public dataset of 273 Mexican mestizo CIS patients with 10-year follow-up. The data was divided into a training set for cross-validation and feature selection, and a holdout test set for final testing. Feature importance was determined using the SHapley Additive Explanations library (SHAP). Then, two experiments were conducted to optimize the model's performance by selectively adding variables and selecting the most contributive variables for the final model. ResultsNine variables including age, gender, schooling, motor symptoms, infratentorial and periventricular lesion at imaging, oligoclonal band in cerebrospinal fluid, lesion and symptoms types were significant. The model achieved an accuracy of 83.6 %, AUC of 91.8 %, sensitivity of 83.9 %, and specificity of 83.4 % in cross-validation. In the final testing, the model achieved an accuracy of 78.3 %, AUC of 85.8 %, sensitivity of 75 %, and specificity of 81.1 %. Finally, a web-based demo of the model was created for testing purposes. ConclusionThe model, focusing on feature selection and interpretability, effectively stratifies risk for treatment decisions and disability prevention in MS patients. It provides a numerical risk estimate for CDMS conversion, enhancing transparency in clinical decision-making and aiding in patient care.

Matching proposed clinical and MRI criteria of aggressive multiple sclerosis to serum and cerebrospinal fluid markers of neuroaxonal and glial injury

BackgroundDefinitions of aggressive MS employ clinical and MR imaging criteria to identify highly active, rapidly progressing disease courses. However, the degree of overlap between clinical and radiological parameters and biochemical markers of CNS injury is not fully understood. Aim of this cross-sectional study was to match clinical and MR imaging hallmarks of aggressive MS to serum/CSF markers of neuroaxonal and astroglial injury (neurofilament light chain (sNfL, cNfL), and glial fibrillary acidic protein (sGFAP, cGFAP)).MethodsWe recruited 77 patients with relapsing–remitting MS (RRMS) and 22 patients with clinically isolated syndrome. NfL and GFAP levels in serum and CSF were assessed using a single-molecule-array HD-1-analyzer. A general linear model with each biomarker as a dependent variable was computed. Clinical and imaging criteria of aggressive MS, as recently proposed by the ECTRIMS Consensus Group, were modeled as independent variables. Other demographic, clinical or laboratory parameters, were modeled as covariates. Analyses were repeated in a homogenous subgroup, consisting only of newly diagnosed, treatment-naïve RRMS patients presenting with an acute relapse.ResultsAfter adjusting for covariates and multiplicity of testing, sNfL and cNfL concentrations were strongly associated with the presence of ≥2 gadolinium-enhancing lesions (psNfL = 0.00008; pcNfL = 0.004) as well as the presence of infratentorial lesions on MRI (psNfL = 0.0003; pcNfL < 0.004). No other clinical and imaging criteria of aggressive MS correlated significantly with NfL or GFAP in serum and CSF. In the more homogeneous subgroup, sNfL still was associated with the presence of ≥2 gadolinium-enhancing lesions (psNfL = 0.001), presence of more than 20 T2-lesions (psNfL = 0.049) as well as the presence of infratentorial lesions on MRI (psNfL = 0.034), while cNfL was associated with the presence of ≥2 gadolinium-enhancing lesions (psNfL = 0.011) and presence of more than 20 T2-lesions (psNfL = 0.029).ConclusionsAmong proposed risk factors for an aggressive disease course, MRI findings but not clinical characteristics correlated with sNfL and cNfL as a marker of neuroaxonal injury and should be given appropriate weight considering MS prognosis and therapy. No significant correlation was detected for GFAP alone.

Early prediction of unfavorable evolution after a first clinical episode suggestive of multiple sclerosis: the EUMUS score.

Predicting disease progression in patients with the first clinical episode suggestive of multiple sclerosis (MS) is crucial for personalized therapeutic approaches. This study aimed to develop the EUMUS score for accurately estimating the risk of early evidence of disease activity and progression (EDA). Retrospective analysis was conducted on data from 221 patients with a first clinical MS episode collected from four Italian MS centers. Various variables including socio-demographics, clinical features, cerebrospinal fluid analysis, evoked potentials, and brain MRI were considered. A prognostic multivariate regression model was identified to develop the EUMUS score. The optimal cutoff for predicting the transition from no evidence of disease activity (NEDA3) to EDA was determined. The accuracy of the prognostic model and score were tested in a separate UK MS cohort. After 12 months, 61.54% of patients experienced relapses and/or new MRI lesions. Younger age (OR 0.96, CI 0.93-0.99; p = 0.005), MRI infratentorial lesion(s) at baseline (OR 2.21, CI 1.27-3.87; p = 0.005), positive oligoclonal bands (OR 2.89, CI 1.47-5.69; p = 0.002), and abnormal lower limb somatosensory-evoked potentials (OR 2.77, CI 1.41-5.42; p = 0.003) were significantly associated with increased risk of EDA. The EUMUS score demonstrated good specificity (72%) and correctly classified 80% of patients with EDA in the independent UK cohort. The EUMUS score is a simple and useful tool for predicting MS evolution within 12 months of the first clinical episode. It has the potential to guide personalized therapeutic approaches and aid in clinical decision-making.

Stereotactic frame-based biopsy of infratentorial lesions via the suboccipital-transcerebellar approach with the Zamorano-Duchovny stereotactic system—a retrospective analysis of 79 consecutive cases

ObjectiveLesions of the posterior fossa (brainstem and cerebellum) are challenging in diagnosis and treatment due to the fact that they are often located eloquently and total resection is rarely possible. Therefore, frame-based stereotactic biopsies are commonly used to asservate tissue for neuropathological diagnosis and further treatment determination. The aim of our study was to assess the safety and diagnostic success rate of frame-based stereotactic biopsies for lesions in the posterior fossa via the suboccipital-transcerebellar approach.MethodsWe performed a retrospective database analysis of all frame-based stereotactic biopsy cases at our institution since 2007. The aim was to identify all surgical cases for infratentorial lesion biopsies via the suboccipital-transcerebellar approach. We collected clinical data regarding outcomes, complications, diagnostic success, radiological appearances, and stereotactic trajectories.ResultsA total of n = 79 cases of stereotactic biopsies for posterior fossa lesions via the suboccipital-transcerebellar approach (41 female and 38 male) utilizing the Zamorano-Duchovny stereotactic system were identified. The mean age at the time of surgery was 42.5 years (± 23.3; range, 1–87 years). All patients were operated with intraoperative stereotactic imaging (n = 62 MRI, n = 17 CT). The absolute diagnostic success rate was 87.3%. The most common diagnoses were glioma, lymphoma, and inflammatory disease. The overall complication rate was 8.7% (seven cases). All patients with complications showed new neurological deficits; of those, three were permanent. Hemorrhage was detected in five of the cases having complications. The 30-day mortality rate was 7.6%, and 1-year survival rate was 70%.ConclusionsOur data suggests that frame-based stereotactic biopsies with the Zamorano-Duchovny stereotactic system via the suboccipital-transcerebellar approach are safe and reliable for infratentorial lesions bearing a high diagnostic yield and an acceptable complication rate. Further research should focus on the planning of safe trajectories and a careful case selection with the goal of minimizing complications and maximizing diagnostic success.

Radiologically isolated syndromes: to treat or not to treat?

The widespread use of magnetic resonance imaging (MRI) has led to increased detection of individuals exhibiting asymptomatic brain and spinal cord lesions suggestive of multiple sclerosis (MS), defined as "radiologically isolated syndrome" (RIS). Specific criteria have been proposed and updated over time to identify individuals with RIS. Moreover, a younger age, the presence of infratentorial, spinal cord or gadolinium-enhancing lesions, as well as of cerebrospinal fluid-specific oligoclonal bands have been recognized as relevant risk factors for the occurrence of a first clinical event. Recent randomized controlled trials conducted in individuals with RIS have shown that dimethyl fumarate and teriflunomide significantly reduce the occurrence of clinical events in this population. These findings support the notion that early treatment initiation may positively influence the prognosis of these patients. However, several aspects should be taken into account before treating individuals with RIS in the real-world clinical setting, including an accurate identification of individuals with RIS to avoid misdiagnosis, a precise stratification of their risk of experiencing a first clinical event and further data supporting favorable balance between benefits and risks, even in the long term. This commentary provides an overview of the latest updates in RIS diagnosis, prognosis, and emerging treatment evidence.

Image-guided biopsy of intracranial lesions in children, with a small robotic device: a case series.

Robot-assisted biopsies have gained popularity in the last years. Most robotic procedures are performed with a floor-based robotic arm. Recently, Medtronic Stealth Autoguide, a miniaturized robotic arm that work together with an optical neuronavigation system, was launched. Its application in pediatric cases is relatively unexplored. In this study, we retrospectively report our experience using the Stealth Autoguide, for frameless stereotactic biopsies in pediatric patients. Pediatric patients who underwent stereotactic biopsy using the Stealth Autoguide cranial robotic platform from July 2020 to May 2023 were included in this study. Clinical, neuroradiological, surgical, and histological data were collected and analyzed. Nineteen patients underwent 20 procedures (mean age was 9-year-old, range 1-17). In four patients, biopsy was part of a more complex surgical procedure (laser interstitial thermal therapy - LITT). The most common indication was diffuse intrinsic brain stem tumor, followed by diffuse supratentorial tumor. Nine procedures were performed in prone position, eight in supine position, and three in lateral position. Facial surface registration was adopted in six procedures, skull-fixed fiducials in 14. The biopsy diagnostic tissue acquisition rate was 100% in the patients who underwent only biopsy, while in the biopsy/LITT group, one case was not diagnostic. No patients developed clinically relevant postoperative complications. The Stealth Autoguide system has proven to be safe, diagnostic, and highly accurate in performing stereotactic biopsies for both supratentorial and infratentorial lesions in the pediatric population.

Multiple Sclerosis in Comparison to Sporadic Multiple Sclerosis in Iraqi Patients

Multiple Sclerosis (MS) is a complex autoimmune disease affecting the central nervous system, characterized by diverse symptoms based on lesion locations. Familial MS (FMS) indicates a genetic predisposition, potentially leading to a more severe disease course than sporadic MS, which lacks familial clustering. This distinction is critical for diagnosing and treating MS, particularly in the Iraqi patient population. The study aims to evaluate and compare the clinical and radiological features of FMS and sporadic MS among patients at the Baghdad Teaching Hospital's MS outpatient clinic. In this observational retrospective cross-sectional study, conducted from July 1, 2023, to December 31, 2023, at the Baghdad M.S outpatient clinic within the Medical City complex in Baghdad, Iraq, 100 MS patients were enrolled, with an equal division between FMS (n=50) and sporadic MS (n=50) cases. Participants were selected based on a definitive MS diagnosis, with FMS patients having a first or second-degree relative with MS. Data were collected via a questionnaire focusing on demographics, clinical presentations, MRI findings, and EDSS scores. Analysis was performed using SPSS version 26, employing Pearson Chi-square tests and Fisher's Exact test, with significance set at P ≤ 0.05. The demographic analysis revealed a predominant female representation (89%), with a significant age range between 20-30 years (48%). Time to diagnosis was notably longer for FMS cases, averaging 25.235 months, compared to 10.295 months for sporadic cases (P=0.002). Clinical presentations did not significantly differ between groups, but FMS cases exhibited greater disability severity, with higher EDSS scores indicating moderate to severe disability in 31% of FMS cases compared to only 19% in sporadic cases (P=0.035). MRI findings showed a higher prevalence of spinal cord and corpus callosum lesions in FMS (P=0.001 and P=0.027, respectively), with no significant differences in juxtacortical, cortical, or infratentorial lesions. This study illuminates that MS mainly affects females in their twenties and thirties, with familial MS cases taking longer to diagnose than sporadic ones. Familial cases exhibited more severe disabilities and more lesions in the spinal cord and corpus callosum. This indicates a complex interplay between genetics and MS, underscoring the importance of further research to enhance our understanding of the disease.

Predictors of progression of multiple sclerosis in a sample of Egyptian patients

BackgroundMultiple sclerosis (MS) is a multifactorial neurodegenerative autoimmune disease with a varied clinical course and presentation, which is more frequent than ever in the Middle East. The aim of this work is to investigate potential predictors of MS progression in order to help in early diagnose and predict progressive course of the disease.ResultsThis is a retrospective case–control study conducted on a group of multiple sclerosis (MS) patients who developed secondary progression of the disease course (SPMS). The cases were matched with control MS patients who did not develop any disease progression (relapsing remitting MS (RRMS)). The matching was done for sex, and age with a ratio 1:1, total of 150 patients were included as cases and were matched with 150 control patients. Significant associations between MS progression and smoking, vitamin D deficiency, disease duration, delay in MS diagnosis, unemployment, site and number of lesions, and number of black holes were reported. About half of SPMS patients (53.3%) had 3 or more spinal lesions compared to only 1.4% of RRMS patients (p < 0.001). Moreover, about 76% of RRMS patients had no black holes in their radiological finding, while it was found that 35.3% of the SPMS patients had more than 5 black holes, compared to 8% of RRMS patients. Additionally, juxta-cortical site lesions were more frequent in SPMS than that in RRMS in a percentage 72.7 and 46%, respectively. Also, infra-tentorial lesions were found to be more frequent in SPMS group rather than RRMS group 92% and 78.7%, respectively.On the other hand, a lower SDMT scale was associated with a shorter time to SPMS diagnosis in the multivariate Cox regression analysis adjusted to baseline factors and 25-FWT (HR: 0.928, 95% CI: 0.906–0.95).ConclusionsMS secondary progression can be predicted among MS patients in routine practice comprising exposure history, clinical assessment, laboratory findings, and radiological examinations.

From Microscopic to Exoscopic Microsurgery: Are We Facing a Change of Paradigm?

Neurosurgery is a medical branch characterized by small and deep surgical field with the need of manipulation and dissection of anatomical structures. High light and magnification are required in order to avoid injuries to important anatomical structures and to avoid permanent neurological deficits. Introduction of operative microscope made a change of paradigm in neurosurgery allowing to better see what could not be seen with common light. Nowadays, introduction of several technologies have increased the safety and efficacy of neurosurgery. Among new technologies, the 3D exoscope is emerging pretending to shift the paradigm of microneurosurgery. In this work, we aim to show our first experience with the use of the exoscope showing advantages and disadvantages. We reviewed our surgical database from the introduction of the exoscope in our department (in November 2020 temporarily; then from November 2021 definitively) searching for all the microsurgery interventions performed in the period. From the introduction of the exoscope in our department, we operated 244 cases with the OM and 228 with the exoscope. We operated 175 lesions located in the supratentorial compartment, 29 in the infratentorial, and 24 in the spinal column. Regarding the OM, the ratios were as follows: 122 females and 122 males; 235 adults and 9 children; 66 supratentorial lesions, 14 infratentorial lesions, and 164 spine surgeries. Our team showed a progressive switch from the microscope to the exoscope. Only one member of our team preferred to continue to use the standard operative microscope. Our experience showed no complications related to the use of the exoscope that proved to be safe and effective both for surgery and teaching.

Plasma glial fibrillary acidic protein levels correlate with paramagnetic rim lesions in people with radiologically isolated syndrome.

There are no specific, evidence-based recommendations for the management of individuals with radiologically isolated syndrome. Imaging and blood biomarkers may have prognostic utility. To determine whether plasma neurofilament light protein (NfL) or glial fibrillary acidic protein (GFAP) levels in people with radiologically isolated syndrome correlate with imaging measures that have been shown to be associated with negative clinical outcomes in people with multiple sclerosis. Cross-sectional analysis of people with radiologically isolated syndrome. Participants underwent magnetic resonance imaging (MRI) of the brain and cervical spinal cord, and plasma was collected. Plasma NfL and GFAP levels were measured with a single-molecule array, and correlations with MRI measures were assessed, including the number of: T1-black holes, white-matter lesions demonstrating the central vein sign, paramagnetic rim lesions, cervical spinal cord lesions and infratentorial lesions. Plasma GFAP levels, but not NfL levels, showed correlations with the number of T1-black holes, white matter lesions demonstrating the central vein sign and paramagnetic rim lesions (all p < 0.05). We found correlations between plasma GFAP levels and imaging measures associated with poor clinical outcomes and chronic inflammation in individuals with radiologically isolated syndrome. Plasma GFAP may have prognostic utility in clinical trials and clinical practice.

Detection of Multiple Sclerosis Lesions in Supra- and Infra-Tentorial Anatomical Regions by Double Inversion Recovery, Flair, and T2 MRI Sequences: A Comparative Study in Iraqi Patients

Background: In young adults, multiple sclerosis is a prevalent chronic inflammatory demyelinating condition. It is characterized by white matter affection, but many individuals also have significant gray matter involvement. A double-inversion recovery pulse (DIR) pattern was recently proposed to improve the visibility of multiple sclerosis lesions. Objective: To find out how well a DIR sequence, FLAIR, and T2-weighted pulse sequences can find MS lesions in the supratentorial and infratentorial regions. Methods: A total of 37 patients with established diagnoses of multiple sclerosis were included in this cross-sectional study. Brain MRI was done using double inversion recovery, T2, and FLAIR sequences. The number of lesions was counted and compared in the three sequences. Results: The DIR sequence detected more infratentorial lesions when compared to the T2 and FLAIR sequences. In the supratentorial region, DIR detected more lesions than T2 and FLAIR. Conclusion: The DIR sequence is highly superior to both the T2 and FLAIR sequences in depicting the lesions, regardless of their anatomical distribution. Moreover, the DIR sequence detected more multiple sclerosis lesions in the infratentorial region than the traditional T2W and FLAIR sequences.

Neurologic involvement in cystinosis: Focus on brain lesions and new evidence of four-repeat (4R-) Tau immunoreactivity

Nephropathic cystinosis is a rare autosomal recessive storage disorder caused by CTNS gene mutations, leading to autophagy-lysosomal pathway impairment and cystine crystals accumulation. Neurologic involvement is highly variable and includes both neurodevelopmental and neurodegenerative disturbances, as well as focal neurologic deficits. By presenting longitudinal data of a 28-year-old patient with a large infratentorial lesion, we summarized the pathology, clinical and imaging features of neurological involvement in cystinosis patients. Brain damage in form of cystinosis-related cerebral lesions occurs in advanced disease phases and is characterized by the accumulation of cystine crystals, subsequent inflammation with vasculitis-like features, necrosis, and calcification. Epilepsy is a frequent comorbidity in affected individuals. Steroids might play a role in the symptomatic treatment of “stroke-like” episodes due to edematous-inflammatory lesions, but probably do not change the overall prognosis. Lifelong compliance to depleting therapy with cysteamine still represents the main therapeutic option. However, consequences of CTNS gene defects are not restricted to cystine accumulation. New evidence of four-repeat (4R-) Tau immunoreactivity suggests concurrent progressive neurodegeneration in cystinosis patients, highlighting the need of innovative therapeutic strategies, and shedding light on the crosstalk between proteinopathies and autophagy-lysosomal system defects. Eventually, emerging easily accessible biomarkers such as serum neurofilament light chains (NfL) might detect subclinical neurologic involvement in cystinosis patients.

A mixture model for differentiating longitudinal courses of multiple sclerosis

BackgroundMultiple sclerosis has a broad spectrum of clinical courses. Early identification of patients at greater risk of accumulating disability is essential. ObjectivesIdentify groups of patients with similar presentation through a mixture model and predict their trajectories over the years. MethodsRetrospective study of patients from 1994 to 2019. We performed a latent profile analysis followed by a latent transition analysis based on eight parameters: age, disease duration, EDSS, number of relapses, multi-topographic symptoms, motor impairment, sphincter impairment, and infratentorial lesions. ResultsWe included 629 patients, regardless of the phenotypical classification. We identified three distinct groups at the beginning and end of the follow-up. The three-classes model disclosed the “No disability regardless disease duration” (NDRDD) class with low EDSS and younger patients, the “Disability within a short disease duration” (DSDD) class with the worse disability besides short illness, and the “Disability within a long disease duration” (DLDD) class that achieved high EDSS over a long disease duration. EDSS, disease duration, and no sphincter impairment had the best entropy to distinguish classes at the initial presentation. Over time, the patients from NDRDD had a 52.1 % probability of changing to DLDD and 7.7 % of changing to DSDD. ConclusionsWe identified three groups of clinical presentations and their evolution over time based on considered prognostic factors. The most likely transition is from NDRDD to DLDD.