Clinical characteristics, Risk factors, and outcomes of Posterior circulation stroke: A retrospective study between younger and older adults in Saudi Arabia.

INTRODUCTION: Posterior circulation stroke (PCS) may be less prevalent than its anterior counterpart but contributes to substantial morbidity and mortality. The aim was to characterize PCS's demographics, clinical presentation, management, and outcomes between younger and older adults in Saudi Arabia. METHODS: This retrospective cohort study was conducted at two tertiary medical centers in Saudi Arabia between March 2016 and December 2020. All patients who presented with symptoms of posterior circulation stroke and had positive brain imaging were included. RESULTS: The study involved 160 posterior circulation stroke patients, stratified into two age groups: 71 patients aged 18-59 years and 89 patients aged 60 years and above. The mean age of the entire cohort was 60.9 years, and 77 % were males. Hypertension was more prevalent in the older age group (88 % vs. 69 %, p=0.005), and smoking was significantly higher among younger patients (38 % vs. 15 %; p=0.0009). Only 22.4 % received thrombolysis and/or thrombectomy. Most strokes involved the posterior cerebral artery (45.6 %). Large artery atherosclerosis was the most common subtype. At discharge, younger patients had higher NIHSS compared to older patients. CONCLUSION: Our investigation of 160 PCS patients in Saudi Arabia uncovers notable trends: a mere 22.4 % received thrombolysis and/or thrombectomy and a significant prevalence of posterior cerebral artery involvement due to large artery atherosclerosis. The study further reveals younger patients disproportionately had severe outcomes. Highlighting the need for improved stroke care and heightened awareness, this research contributes vital data to an underexplored domain, urging further study to optimize care and understand PCS dynamics in Saudi Arabia.

Clinical features and outcome of Guillain-Barre syndrome in Saudi Arabia: a multicenter, retrospective study.

BACKGROUND: Guillain-Barre syndrome (GBS) is an inflammatory polyradiculoneuropathy characterized by rapidly evolving weakness and areflexia, reaching nadir within 4 weeks. Data on the characteristic of GBS in Saudi Arabia are limited. This study aimed to describe the clinical, electrophysiological, and laboratory characteristics and outcome of a multicenter cohort of patients with GBS. METHODS: This is a retrospective multicenter nationwide study. Patients who had GBS, identified through Brighton Criteria, between January 2015 and December 2019 were included. Data collected included demographics, clinical features, cerebrospinal fluid profile, reported electrophysiological patterns, treatment, and outcome. Reported GBS subtypes were compared using chi-square, Fisher's exact, or Mann-Whitney U tests, as appropriate. RESULTS: A total of 156 patients with GBS were included (men, 61.5%), with a median age of 38 (interquartile range, 26.25-53.5) years. The most commonly reported antecedent illnesses were upper respiratory tract infection (39.1%) and diarrhea (27.8%). All but two patients (98.7%) had weakness, 64.1% had sensory symptoms, 43.1% had facial diplegia, 33.8% had oropharyngeal weakness, 12.4% had ophthalmoplegia, and 26.3% needed mechanical ventilation. Cytoalbuminological dissociation was observed in 69.1% of the patients. GBS-specific therapy was administered in 96.8% of the patients, of whom 88.1% had intravenous immunoglobulin, and 11.9% had plasmapheresis. Approximately half of the patients were able to walk independently within 9 months after discharge, and a third regained the ability to walk independently thereafter. Death of one patient was caused by septicemia. Acute inflammatory demyelinating polyradiculoneuropathy was the most commonly reported GBS subtype (37.7%), followed by acute motor axonal neuropathy (29.5%), and acute motor-sensory axonal neuropathy (19.2%). CONCLUSION: The clinical and laboratory characteristics and outcome of GBS in the Arab population of Saudi Arabia are similar to the international cohorts. The overall prognosis is favorable.

Public awareness and attitudes toward epilepsy in Saudi Arabia: A systematic review and meta-analysis.

INTRODUCTION: Public awareness of epilepsy and attitudes toward people with epilepsy (PWE) largely affect patients' perceived stigma and their quality of life. Educational interventions to increase public awareness of the disease need to target areas of lowest awareness levels to achieve best results. The aim of this review was to identify these areas in Saudi Arabia. METHODS: This review was based on PRISMA guidelines. Medline, PsychInfo, Embase, Ovid Evidence-Based Medicine Reviews, and Web of Science databases were searched for relevant literature. Inclusion criteria was cross-sectional studies that are done in Saudi Arabia, assess any aspect of epilepsy awareness or attitudes toward PWE, and report outcomes in proportions. Meta-analysis was done on outcomes reported in ≥5 studies utilizing random-effects model. Quality assessment was done using AXIS tool. RESULTS: Twenty-seven studies were included in this review. A total of 48 questions' outcomes were reported in ≥3 studies, and 26 of them were included in the meta-analysis. The meta-analysis estimated that 6.4% (CI 4.2-9.7%) of the population think epilepsy is a contagious disease; 90.7% (CI 85.5-94.1%) have heard/read about epilepsy; 53.1% (CI 47.7-58.3%) have witnessed a seizure; 38.6% (CI 24.7-54.7%) think epilepsy is a psychological disorder; 25.2% (CI 16.5-36.7%) think it is caused by spirit possession; 35.1% (CI 22.0-50.8%) were estimated to think it is caused by evil eye (envy); 37.9% (CI 21.9-57.0%) would try to put something inside a seizing patient's mouth to prevent tongue biting; 34.6% (CI 26.9-43.1%) would approve their offspring marrying someone with epilepsy. CONCLUSION: Areas of unsatisfactory awareness levels included etiology of epilepsy and appropriate seizure responses. Attitudes were more negative regarding marriage, children, and employment. These areas need to be properly addressed in future educational interventions.

Clinical and Radiological Features of Unilateral Posterior Reversible Encephalopathy Syndrome (PRES): A Case Report.

Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological entity characterized by reversible vasogenic edema predominantly affecting the posterior regions of the cerebral hemispheres. However, unilateral presentation of PRES is an exceptionally rare manifestation. We describe the case of a 34-year-old woman who presented with left-sided hemiparesis, hemisensory loss, headache, and focal motor seizures. Brain CT revealed right anterior and posterior hypodensities in the right frontal and parietal subcortical locations, brain MRI showed vasogenic edema in the subcortical right cerebral hemisphere, and cerebral angiogram revealed diffuse narrowing of the left internal carotid artery just distal to the carotid bifurcation with no flow of contrast beyond the ophthalmic segment. The patient's symptoms resolved during her admission, MRI findings improved on repeated imaging, and she was ultimately diagnosed with unilateral PRES. Unilateral PRES is a complex and challenging diagnosis, and this case sheds light on the atypical radiological features of unilateral PRES possibly intricately linked with contralateral steno-occlusive disease of the carotid artery. It is essential to maintain the atypical variants of PRES as part of the differential diagnosis when encountering acute neurological symptoms and vasogenic edema on imaging in the context of contralateral steno-occlusive disease of the carotid artery.

The efficacy of contralaterally controlled functional electrical stimulation compared to conventional neuromuscular electrical stimulation for recovery of limb function following a stroke: a systematic review and meta-analysis.

Introduction: Limb paresis following a stroke is a common sequela that can impact patients' quality of life. Many rehabilitation strategies targeting the restoration of motor function exist. This systematic review and meta-analysis aim to evaluate the effects of contralaterally controlled functional electrical stimulation (CCFES) as a modality for limb rehabilitation. Unlike conventional neuromuscular electrical simulation (NMES), the contra-laterality in CCFES is achieved by two methods a bend angle sensor or an electromyographic bridge (EMGB) method, both of which targets signals from the unaffected limb. Method: This review study was performed following the preferred reporting item for systematic review and meta-analysis (PRISMA) guidelines. Records that met the inclusion criteria were extracted from the following databases: Medline, Embase, and Cochrane Register of Controlled Trials (CENTRAL). Additional articles were also retrieved from clinicaltrials.gov and China/Asia on Demand (CAOD). Only randomized controlled studies (RCTs) were included. Results: Sixteen RCTs met the inclusion criteria, and 14 of which were included in the quantitative analysis (meta-analysis). The results of the analysis show that when compared to conventional NMES, CCFES displayed a better improvement in the upper extremity Fugl-Meyer assessment (UEFMA) (SMD = 0.41, 95% CI: 0.21, 0.62, p-value <0.0001, I2 = 15%, GRADE: moderate), box and blocks test (BBT) (SMD = 0.48, 95% CI: 0.10, 0.86, p-value = 0.01, I2 = 0%, GRADE: very low), modified Barthel index (mBI) (SMD = 0.44, 95% CI: 0.16, 0.71, p-value = 0.002, I2 = 0%, GRADE: moderate), active range of motion (AROM) (SMD = 0.61, 95% CI: 0.29, 0.94, p-value = 0.0002, I2 = 23%, GRADE: moderate), and surface electromyography (sEMG) scores (SMD = 0.52, 95% CI: 0.14, 0.90, p-value = 0.008, I2 = 0%, GRADE: low). The results of the subgroup analysis for the type of sensor used in CCFES shows that an EMGB (SMD = 0.58, 95% CI: 0.33, 0.84, p-value <0.00001, I2 = 7%) is more effective than a bend angle sensor (SMD = 0.17, 95% CI: -0.12, 0.45, p-value = 0.25, I2 = 0%). Conclusion: The results of this study provide strong evidence that shows CCFES being a better electrical stimulation modality compared to conventional NMES. This could be explained by the fact that CCFES is bilateral in nature which offers a platform for better neuroplasticity following a stroke. There is still a need for high-quality studies with a standardized approach comparing CCFES to other treatment modalities. Systematic review registration: https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=342670, identifier CRD42022342670.

Patterns of multiple sclerosis presentation to the emergency department.

Background: Multiple sclerosis (MS) patients are no strangers to the emergency department (ED) due to the relapsing and progressive nature of the disease and the associated complications. This study aimed to identify patterns of ED visits among patients diagnosed with MS, the underlying causes of these visits, and the factors associated with these visits. Methods: This was a single center retrospective cohort study which utilized a non-probability consecutive sampling technique to include all patients diagnosed with MS (471 patients) from March 2016 to October 2021 in King Abdulaziz Medical City, Jeddah, Saudi Arabia. ED visits were categorized as directly related to MS, indirectly related to MS, or unrelated to MS. Results: One in four people with MS visited the ED at least once with a total of 280 ED visits. Most ED visits were ones directly related to MS 43.6%, closely followed by unrelated to MS 41.1%, and then indirectly-related MS visits 15.4%. The most common presenting symptoms in directly-related MS visits were weakness 56.6% and numbness/tingling 56.6% followed by gait impairment 29.5%. Indirectly related to MS or unrelated to MS ED visits were commonly due to neurological 17.7% and gastrointestinal 17.1% causes. Using disease modifying therapy (DMT) was significantly associated with no ED visits (p < 0.001). The use of high-efficacy DMTs was significantly associated with no ED visits than using moderate efficacy DMT (p < 0.001). The use of B-cell depleting therapy (ocrelizumab and rituximab) was significantly associated with no visits to the ED than using any other DMT (p < 0.001). Evidence of brain atrophy on imaging was significantly associated with patients who presented to the ED ≥3 times (p = 0.006, UOR = 3.92). Conclusion: Due to the nature of the disease, many MS patients find themselves visiting the ED due to MS related and unrelated issues. These patients are not only required to be treated by neurologists but also by multiple disciplines. The use of high-efficacy DMTs and B-cell depleting therapy may reduce the total frequency of ED visits. Special attention should be paid to patients who have evidence of brain atrophy on imaging.

Prognosis and distribution of ischemic stroke with negative diffusion-weighted imaging: a systematic review and meta-analysis.

Background: Magnetic resonance diffusion-weighted imaging (DWI) is the most sensitive modality for ischemic stroke diagnosis. However, DWI may fail to detect ischemic lesions in a proportion of patients. Methods: Following PRISMA statement, a systematic search of Medline, Embase, and Web of Science was conducted until January 3, 2024. The inclusion was confined to English literature with sufficient reporting. Proportions of DWI-negative ischemic stroke were pooled. For binary variables, odds ratios (ORs) were computed using the random-effects model. Results: Fourteen studies constituting 16,268 patients with a clinical diagnosis of ischemic stroke and available DWI findings were included. Intravenous thrombolysis (IVT) was administered to 19.6% of the DWI-negative group and 15.3% of the DWI-positive group. DWI-negative ischemic stroke was reported in 16% (95% CI: 10-24%; after sensitivity analysis: 11% [95% CI: 8-15%]) of stroke patients. Among minor stroke patients (National Institutes of Health Stroke scale [NIHSS] of 5 or less), 24% (95% CI 12-42%) had negative DWI findings. Predictors of DWI-negative scans included posterior circulation stroke, history of ischemic heart disease, prior stroke, or prior transient ischemic attack. Cardioembolic stroke (OR, 0.62, 95% CI: 0.41-0.93) and history of atrial fibrillation increased the likelihood of positive DWI findings (OR, 0.56, 95% CI: 0.45-0.71). Patients with DWI-negative ischemic stroke had higher odds of good functional outcomes (modified Rankin scale [mRS] of 0-1) (OR, 2.26; 95% CI: 1.03-4.92), lower odds of stroke recurrence (OR, 0.68; 95% CI: 0.48-0.96), and lower odds of severe disability or mortality (mRS of 3-6) (OR, 0.44; 95% CI: 0.34-0.57) compared to patients with positive DWI. Rates of symptomatic intracerebral hemorrhage after IVT were comparable between groups. Conclusion: DWI-negative findings were present in a significant proportion of ischemic stroke patients and may be utilized as a marker for favorable prognosis.

Role of C5 inhibitors in neuromyelitis optica spectrum disorders with seropositive anti-aquaporin-4 antibody: A systematic review and meta-analysis.

BACKGROUND: Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disorder characterized by relapses of inflammation and demyelination primarily affecting the optic nerve and the spinal cord. C5 complement inhibition is an effective therapeutic approach in the treatment of NMOSD. In this systematic review and meta-analysis, we aimed to determine the role of C5 inhibitors in the treatment of patients with seropositive anti-aquaporin-4 antibody (AQP4+IgG) NMOSD. METHODS: This systematic review follows the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guideline. Relevant articles were systematically searched through Medline, Embase, Cochrane Central Register of Controlled Trials (CENTRAL), and Web of Science databases until October 6th, 2023. We included randomized clinical trials (RCTs) that investigated the treatment with C5 inhibitors compared to placebo in patients with seropositive NMOSD. The primary endpoint was the rates of first adjudicated relapse. Secondary endpoints included different disability and quality of life measures. The random-effects model was used for all statistical analyses. RESULTS: Two RCTs with a total of 201 patients were included. C5 inhibitors demonstrated significant reduction of first adjudicated relapse (risk ratio (RR) = 0.05, 95 % CI 0.01-0.15) and Hauser Ambulation Index (HAI) (mean difference (MD): -0.79, 95 % CI -1.27 to -0.31). There was no significant difference between the two groups in Expanded Disability Status Scale (EDSS) (MD -0.23, 95 % CI -0.54-0.08). C5 inhibitors significantly improved the mean change in EQ-5D index (MD 0.08, 95 % CI 0.01-0.14; P = 0.02); however, no significant difference was shown in the mean change in EQ-5D VAS (MD 3.79, 95 % CI -1.61 to 9.19; P = 0.17). Safety measures were comparable between C5 inhibitors and placebo. CONCLUSION: NMOSD Patients with AQP4+IgG receiving C5 inhibitors have lower rate of relapses and improved levels of disability and quality of life. Real-world studies are warranted to establish the long-term safety of C5 inhibitors.

Drug-Resistant Epilepsy: Experience From a Tertiary Care Center in Saudi Arabia.

Objectives This study aimed to describe the clinical characteristics, investigational results, and management strategies in patients with drug-resistant epilepsy (DRE). Methods This retrospective cohort study included all adult and adolescent patients (aged 14 years or older) diagnosed with DRE who visited the adult neurology clinic at King Abdulaziz Medical City, Jeddah, Saudi Arabia from January 2019 to December 2021. DRE was defined as failure to achieve seizure freedom despite undergoing adequate trials of two well-tolerated and appropriately selected antiseizure medications. Results This study included 299 patients with DRE. Most patients were in their second to fourth decade, with a mean age of 37 ± 17 years. Focal onset epilepsy was diagnosed in 52.5% of the patients, and an etiology for epilepsy was determined in 44.1% of the patients. Findings in brain magnetic resonance imaging were abnormal in 49% of the patients, whereas abnormal findings in electroencephalograms were found in 27.5%. The most common antiseizure medication was levetiracetam (67.6% of cases). Conclusion The findings of this study confirm the challenges in diagnosing and managing patients with DRE and emphasize the necessity for careful and comprehensive patient evaluation. Further research is needed to investigate the effectiveness, safety, and accessibility of diagnostic and therapeutic resources for patients with DRE.

The clinical and radiological features and prevalence of Neuro-Behçet's Disease: A retrospective cohort multicenter study in Saudi Arabia.

BACKGROUND: Neuro-Behçet's disease (NBD) is defined as primary neurological involvement in patients with systemic symptoms of BD. The variety of clinical presentations seen in NBD and the long list of similar conditions make diagnosis challenging. This retrospective study aimed to estimate the prevalence and describe neurological involvement in patients with Behçet's disease who presented to King Abdulaziz Medical Cities in Jeddah and Riyadh, Saudi Arabia. METHODS: This was a retrospective, cohort study which utilized a non-probability consecutive sampling technique to include all patients diagnosed with NBD patients. All patients with BD (215) were screened for neurological symptoms. Thirty-five patients were found to be diagnosed with NBD. Outcomes were estimated using the modified Rankin scale (mRS). RESULTS: In our cohort, one in six patients with BD was diagnosed with NBD. A total of 35 patients were diagnosed with NBD (mean age 27.56 ± 10.36 years; [2.88:1; Male: Female]). The main clinical features of NBD were headaches, weakness, unsteadiness, and dysarthria. The most commonly involved sites on imaging were the brainstem, diencephalon, cerebellum and basal ganglia. Oligocolonal bands were negative in all patients. Maintenance therapy most commonly included oral corticosteroids, azathioprine, and/or infliximab. Most patients received pulse corticosteroids alone when presenting with acute relapse. Half of our cohort was asymptomatic and three in four had favorable outcomes. CONCLUSION: NBD is common among patients with BD in our population with most patients having favorable outcomes. Patients might have a wide array of symptoms which might make the diagnosis challenging.

Anti-mGluR1 encephalitis: Case illustration and systematic review.

Background: The literature for immune-mediated neurological disorders is evolving like no other field of neurological illnesses. Many new antibodies or disorders have been described in the last decade. The cerebellum is a brain structure susceptible to these immune-mediated pathologies, and anti-metabotropic glutamate receptor 1 (mGluR1) antibody has a predilection to the cerebellar tissue. Anti-mGluR1 encephalitis is a rare autoimmune disease affecting the central and peripheral nervous systems, triggering an acute or subacute cerebellar syndrome with varying degrees of severity. Anti-mGluR1 encephalitis is a rare autoimmune disease affecting the central nervous system. We aimed to systematically review reported cases of anti-mGluR1 encephalitis and summarize their clinical presentation, management, outcomes, and case reports. Methods: A search of the PubMed and Google Scholar databases was conducted and included all cases of anti-mGluR1 encephalitis published in English before October 1, 2022. A comprehensive systematic review was conducted using "metabotropic glutamate receptor type 1," "mGluR1," autoantibodies," "autoantibodies," "autoimmunity," and "antibody" as keywords. The risk of bias assessment of the evidence was performed using appropriate tools. The qualitative variables were presented as frequency and percentage. Results: Including our case, 36 cases of anti-mGluR1 encephalitis (19 males, median age 52.5 years, 11.1% pediatric cases) have been reported. The most common clinical manifestations are ataxia, dysarthria, and nystagmus. Initial imaging was normal in 44.4% of patients; however, 75% of patients showed abnormality later in the disease course. The first-line therapy options include glucocorticoids, intravenous immunoglobulin, and plasma exchange. Rituximab is the most commonly used second-line treatment. Complete remission was achieved in only 22.2% of patients, and 61.8% were disabled by the end of their course. Conclusion: Anti-mGluR1 encephalitis manifests as symptoms of cerebellar pathology. Although the natural history has not been completely elucidated, early diagnosis with prompt initiation of immunotherapy could be imperative. Any patient suspected to have autoimmune cerebellitis should be tested for the presence of anti-mGluR1 antibody in the serum and cerebrospinal fluid. Escalation to an aggressive therapy approach should be applied in cases that do not respond to first-line therapies, and extended follow-up durations are required in all cases.

Experience and perception of utilizing virtual clinic in neurological assessment in Saudi Arabia.

Introduction: The World Health Organization defined electronic health as "the unified usage of information technology and electronic communications in the health sector." In the Kingdom of Saudi Arabia, outpatient encounters were largely shifted to virtual clinics due to the crisis caused by COVID-19. This study aimed to evaluate the neurology consultants', specialists', and residents' experience and perception of utilizing virtual services for neurological assessment in Saudi Arabia. Methods: This cross-sectional study was conducted by sending an anonymous online survey to neurologists and neurology residents in Saudi Arabia. The survey was developed by the authors and contained three main sections: demographics, subspecialty and years of experience after residency, and virtual clinics during the coronavirus disease 2019 (COVID-19) pandemic. Result: A total of 108 neurology-practicing physicians in Saudi Arabia responded to the survey. Overall, 75% experienced virtual clinics, and 61% of them used phones for consultation. In neurology clinical practice, there was a significant difference (P < 0.001) regarding the teleconsultations for follow-up patients compared to the newly referred patients, being more suitable for the follow-up cases. Additionally, most neurology practicing physicians showed more confidence in performing history-taking tasks virtually (82.4%) than in physical examination. However, it was found that consultants were significantly (P < 0.03) more confident to virtually perform the cranial nerve, motor, coordination, and extrapyramidal assessments than the neurology residents. Physicians deemed it more suitable to conduct teleconsultations for patients with headaches and epilepsy than for those with neuromuscular and demyelinating diseases/multiple sclerosis. Furthermore, they agreed that patients' experiences (55.6%) and physicians' acceptance (55.6%) were the two main limitations to implementing virtual clinics. Discussion: This study revealed that neurologists were more confident in performing history-taking in virtual clinics than in physical exams. On the contrary, consultants were more confident in handling the physical examination virtually than the neurology residents. Moreover, the most accepted clinics to be handled electronically were the headache and epilepsy clinics in comparison to the other subspecialties, being mainly diagnosed using history. Further studies with larger sample sizes are warranted to observe the level of confidence in performing different duties in neurology virtual clinics.

Efficacy and safety of tenecteplase in comparison to alteplase in acute ischemic stroke: A systematic review and meta-analysis of randomized controlled trials.

BACKGROUND: Alteplase is the standard medical therapy for acute ischemic stroke (AIS) patients who present within 4.5 h of symptom onset. Tenecteplase is a modified alteplase variant with pharmacological and practical advantages over alteplase. Many trials have investigated the efficacy and safety of tenecteplase against alteplase. This systematic review and meta-analysis aimed to compare the efficacy and safety of tenecteplase to alteplase across randomized controlled trials. METHOD: Medline, Embase, and Cochrane CENTRAL were used to search the related articles until February 20, 2023. Randomized controlled trials (RCTs) that compared the effectiveness and safety of tenecteplase against alteplase for AIS patients were included. Screening, risk of bias assessment, and data extraction were performed following PRISMA guidelines. Data were pooled using a random-effect model. RESULTS: Ten RCTs were included, with a total of 5123 patients. There was no significant difference between the two interventions in modified rankin scale 0-1 (mRS 0-1) (RR= 1.04, 95% CI [0.99-1.10], P = 0.11, I2 =0%) and early neurological improvement (RR= 1.06, 95% CI [0.97-1.15], P = 0.21, I2 =35). There was no difference in the rates of symptomatic intracranial hemorrhage (RR= 1.18, 95% CI [0.84-1.65], P = 0.35, I2 = 0%). Tenecteplase was associated with significantly higher complete recanalization rate compared to alteplase (RR= 1.17, 95% CI [1.00-1.36], P = 0.05, I2 =0%). For large vessel occlusion (LVO) patients assigned to tenecteplase, there was a significant improvement in mRS 0-1 (RR= 1.28, 95% CI [1.07-1.52], P = 0.006, I2 =0%). CONCLUSION: Based on our meta-analysis, tenecteplase has similar efficacy and safety to alteplase, with a more promising effect in patients with LVO.

Fibrodysplasia Ossificans Progressiva Mimics Generalized Dystonia Disorder: A Case Report.

Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant disorder characterized by congenital deformities of the big toes and the progressive formation of extra-skeletal bone within soft tissues. The underlying genetic cause of FOP is mostly due to gain-of-function mutations in the AVCR1/ALK2 genes. These mutations cause aberrant bone morphogenetic protein (BMP) signaling pathways and eventually result in cumulative musculoskeletal impairment. FOP has a prevalence of approximately one in every 2 million people worldwide, with nearly 90% of patients being misdiagnosed, possibly leading to an underestimation of its true prevalence. To the best of our knowledge, there are only three reported cases in Saudi Arabia. We report a case of a 21-year-old female patient, a product of a consanguineous marriage, referred to the neurology clinic for new-onset dysphagia and dysarthria in association with progressive painful muscle stiffness, which started at the age of four years. The diagnosis of generalized dystonia disorder was suspected, but eventually the whole exome sequencing showed a pathogenic missense mutation in the ACVR1 gene, confirming the diagnosis of FOP. FOP is a rare, debilitating disorder that can be difficult to diagnose and manage. Current research efforts are focused on early diagnosis and a high index of suspicion to help prevent unnecessary investigations and procedures, slow the progression of the disease, and promote patients' quality of life and long-term outcomes.

Prevalence of Etiological Factors in Adult Patients With Epilepsy in a Tertiary Care Hospital in the Western Region of Saudi Arabia: A Cross-Sectional Study.

Background Epilepsy is a chronic neurologic condition with different risk factors and genetic predispositions. It is characterized by the occurrence of an epileptic seizure. To our knowledge, most studies have focused on revealing epilepsy prevalence in Saudi Arabia, but the etiological prevalence is still not well-studied in the region. Thus, this research aims to raise awareness and provide more insights into the etiological prevalence of this disorder. Methodology A cross-sectional study was performed among 431 adult patients diagnosed with epilepsy in the Neurology Department at King Abdulaziz Medical City in Jeddah, Saudi Arabia. Patients' data were retrospectively collected from electronic medical files covering the period between May 2016 and April 2021. Epilepsy etiologies were classified as suggested by the International League Against Epilepsy 2017. Results The most commonly identified seizures were generalized (25.3%) and focal (8.9%). However, 66.1% of seizure types were unidentifiable. The most common etiology was structural (42.9%), followed by genetic (7.2%), with strokes (24.3%) and tumors (23.8%) being the most prevalent structural etiologies. However, 47.6% of the patients were classified under unknown etiology. Conclusions This study suggested that epilepsy diagnosed as generalized was by far the most common seizure type in our cohort. Structural etiology was evident in most patients, with stroke being the highest presented etiology.

The prevalence of major depression and generalized anxiety disorder in patients with multiple sclerosis in Saudi Arabia: a cross-sectional multicentered study.

Background: Multiple sclerosis (MS) is an autoimmune disease characterized by chronic, progressive neurodegeneration of the central nervous system (CNS), and it is the most common inflammatory neurological disease affecting young adults. Given the chronic, progressive nature of the disease, psychiatric disorders are more prevalent among these patients, as reported in the literature; however, data in Saudi Arabia are limited. This study aimed to estimate the prevalence of major depression and generalized anxiety disorder in patients with MS and their association with different patient demographics. Methods: This was a cross-sectional, multicentered study that included adult patients with MS from 30 June 2021 to 30 June 2022. Participants were interviewed in person and asked to complete a survey that included general demographics, the Patient Health Questionnaire-9 (PHQ-9), and the Generalized Anxiety Disorder-7 (GAD-7) questionnaire. Other variables related to the patients' conditions, such as MS type and Expanded Disability Status Scale (EDSS) score, were collected from the patient's electronic records. Descriptive statistics were performed, and associations were made using the chi-square, Fisher's exact, and analysis of variance tests, as appropriate. Results: A total of 192 participants were included in this study. Based on a cutoff score of >10 on the GAD-7 and PHQ-9 scales, the prevalence of generalized anxiety disorder was 26.1% (50), with the majority of participants having minimal anxiety (40%); meanwhile, the prevalence of major depression was 42.7% (n = 82), and most of them had mild depression (30%). Female participants scored significantly higher compared to men on the GAD-7 scale (p = 0.0376), but not on the PHQ-9 scale (p = 0.1134). In addition, no statistically significant association was detected between functional disability (EDSS score) and prevalence of anxiety and depression. Conclusion: This study demonstrated a high prevalence of generalized anxiety disorder and major depression among patients with MS compared with that in the general population, with women being more affected. As these comorbid disorders could negatively affect the disease course, screening is of paramount significance.

Influenza vaccine effect on risk of stroke occurrence: a systematic review and meta-analysis.

Background: Stroke is a significant global cause of mortality and long-term disability, potentially influenced by infections that heighten systemic inflammation and thrombotic events. The full impact of influenza vaccination on stroke remains uncertain. This systematic review and meta-analysis aimed to investigate the association between influenza immunization and stroke incidence. Methods: We searched for randomized controlled trials (RCTs), case-control, and cohort studies published in PubMed/Medline, Cochrane-Central-Register-of-Controlled-Trials (CENTRAL), and Embase until 5 December 2022, and identified articles investigating the effect of influenza vaccine on stroke occurrence. All articles were screened by two independent reviewers. We performed a meta-analysis to investigate the risk of stroke occurrence in vaccinated vs. unvaccinated individuals. The random-effects model was used in all statistical analyses. Results: Among the 26 articles meeting our criteria, 10 were retrospective cohort studies, 9 were case-control studies, 3 were prospective cohort studies, 3 were RCTs and 1 case-series. Overall, the studies showed a significant decrease in the risk of stroke incidence/hospitalization among vaccinated patients (OR = 0.81, 95% CI [0.77-0.86], p = 0.00001). Furthermore, studies showed flu vaccine decreases the occurrence of mortality among stroke patients (OR = 0.50, 95% CI [0.37-0.68], p = 0.00001). Sub-group analysis revealed significant protective effect for patients with specific comorbidities including atrial fibrillation (OR = 0.68, 95% CI [0.57-0.81], p = 0.0001), diabetes (OR = 0.76, 95% CI [0.66-0.87], p = 0.0001), Chronic obstructive pulmonary disease (OR = 0.70, 95% CI [0.61-0.81], p = 0.00001), and hypertension (OR = 0.76, 95% CI [0.70-83], p = 0.00001). Conclusion: The current meta-analysis further supports prior findings that influenza vaccination reduces stroke risk, particularly in patients with comorbidities. Guidelines should promote vaccination for at-risk individuals.

Effect of Seasonal Variation on Relapse Rate in Patients With Relapsing-Remitting Multiple Sclerosis in Saudi Arabia.

Multiple sclerosis (MS) is becoming a global subject of study in which some demographic variations are thought to be correlated with its activity. Relapsing-remitting multiple sclerosis (RRMS) is the most common demyelinating disorder, characterized by periods of exacerbating attacks, followed by partial or complete remission. Several factors might play a role in disease progression and relapse frequency, such as vitamin D, ultraviolet B radiation, estrogen levels, smoking, obesity, and unhealthy lifestyles. In this study, we identified the relationship between seasonal variation and relapse rate and correlated the latter with sex, age, and vitamin D levels in patients with RRMS in Jeddah, Saudi Arabia. We retrospectively collected data from 182 RRMS patients between 2016 and 2021. A total of 219 relapses were documented in 106 patients (58.2 %). The relapse per patient ratio showed a sinusoidal pattern, peaking in January at a rate of 0.49 and troughed in June at a rate of 0.18. There was no difference in relapse rates between men and women (p =0.280). There was a significant negative correlation between vitamin D levels and relapse rate (r = -0.312, p =0.024). Therefore, the relapse rate was higher during the winter and was correlated with low vitamin D levels. However, relapses are likely multifactorial, and more population-based studies are needed to understand the role of environmental variables in MS exacerbation. A better understanding of this relationship will allow for improved treatment and possibly better prevention of relapse.

Cerebral Venous Sinus Thrombosis Secondary to Neurobrucellosis: A Case Report.

Brucellosis is a common infection that rarely causes cerebral venous sinus thrombosis (CVST). In this case, a 23-year-old male presented to the emergency department with status epilepticus. With a past medical history of drinking unpasteurized camel milk, elevated inflammatory markers, and evidence of brucellosis in the serum, the patient was diagnosed with brucellosis. Further investigations revealed left transverse sinus thrombosis extending to the jugular vein. The patient was treated with enoxaparin and a combination of doxycycline, ceftriaxone, and trimethoprim-sulfamethoxazole. This regimen led to rapid and significant clinical improvement in the signs and symptoms of the patient. CVST is a rare complication of neurobrucellosis that might present with signs and symptoms of meningitis. This case report highlights the importance of keeping neurobrucellosis as a possible cause of CVST in patients living in an area endemic to brucellosis.

The Relationship Between Smoking and Multiple Sclerosis Severity in Saudi Arabia.

Introduction Multiple sclerosis (MS) is an autoimmune disease that can be disabling to patients. Smoking has been proposed to be a risk factor for MS and to increase the risk of progression of the disease and its severity. However, it is still not clear how smoking affects people with MS (PwMS) regarding disease phenotype, symptoms, relapses, course, and disability. The aim of this study is to investigate the effect of smoking on PwMS in Saudi Arabia. Methods This is an online questionnaire-based cross-sectional study. PwMS were randomly contacted through different MS societies and associations to participate in the study. The questionnaire inquired about demographics, MS phenotype and severity, and smoking status of the participants. Data were collected between May 30, 2021, and July 5, 2021. Results Four hundred twenty-nine PwMS participated in the study. The mean age was 33.7, with a mean disease duration of 8.1 years. About 61.1% of the participants were female. About 62.2% did not know the specific MS phenotype they have. About 35.7% were current or previous smokers, with a mean smoking duration of 13.9 years. Smoking was significantly associated with the presence of multiple MS symptoms (p-value = 0.009) and their number (p-value = 0.050). In addition, there was a significant positive correlation between pack-years smoking and the number of MS symptoms with a Pearson's r value of 0.165 (p-value = 0.001). No significant associations were found between smoking and recent relapses and disease progression, disability in terms of walking, needing a cane, or needing a wheelchair. Conclusion Smoking was shown to have a significant effect on the number of symptoms experienced by PwMS. Higher pack-years of smoking correlates positively and significantly with a higher number of MS symptoms. Further studies to examine these relations are hence warranted.