Revista de neurologia最新文献

Objective: To investigate the optimal timing of stereotactic minimally invasive surgery (SMIS) in individuals with supratentorial intracerebral hemorrhage (sICH) and brain herniation.

Method: A retrospective analysis was conducted on patients with sICH and brain herniation who underwent SMIS in the emergency department of the Affiliated Hospital of Guizhou Medical University between January 2019 and October 2024. The patients were categorized into three groups based on the time from the onset of brain herniation to receiving SMIS: ≤6-h group (112 cases), 6-12-h group (57 cases), and >12-h group (32 cases). All enrolled patients were monitored over a 6-month period, and their prognoses were assessed using the Glasgow Outcome Scale Extended (GOSE), which was used for grouping. Clinical data, imaging findings, complications, comorbidities, infection markers, and outcome data were collected and analyzed comprehensively. Detailed analyses and comparisons were performed based on GOSE scores, Modified Rankin Scale (mRS) scores, and survival rates at 1, 3, and 6 months after sICH. Patients with mRS scores of 1-3 and GOSE scores of 4-8 had favorable outcomes. A detailed analysis of the six-month survival rate and post-treatment functional outcomes was conducted to draw research conclusions.

Result: This study included 201 patients. At 6 months sICH, the mRS scores were 3.71 ± 1.30 for the ≤6-h group, 4.61 ± 1.25 for the 6-12-h group, and 4.18 ± 1.35 for the >12-h group, with the ≤6-h group showing markedly higher scores (p < 0.001). The GOSE scores at 6 months postoperatively were 4.05 ± 1.73 for the ≤6-h group, 3.05 ± 1.76 for the 6-12-h group, and 3.19 ± 1.73 for the >12-h group, with the ≤6-h group showed markedly higher scores (p = 0.001). The proportion of favorable outcomes at 6 months postoperatively was 47.3% for the ≤6-h group, 24.6% for the 6-12-h group, and 18.8% for the >12-h group, with the proportion of favorable outcomes highest in the ≤6-h group (p = 0.001). The Kaplan-Meier survival curve showed that the survival rate of the ≤6-h group was 80.4%, which was significantly higher than the 57.9% of the 6-12-h group and the 65.6% of the >12-h group (F = 10.060, p = 0.007).

Conclusion: Undergoing SMIS intracranial hematoma evacuation within 6 h of brain herniation onset can effectively reduce neurological damage, significantly improve survival rates, and provide favorable prognosis.

Although prospective studies directly estimate the influence of a factor on the onset of a disease, case-control sampling is often cheaper, faster, and sometimes the only feasible option. In these studies, a random sample of individuals with the disease (cases) is taken, and the proportion of them, P₁, who were exposed to the factor is evaluated. A random sample of individuals without the disease (controls) is also taken, and the proportion of them, P₀, who were exposed is evaluated. From these two proportions, the respective odds and their ratio, the odds ratio (OR), are calculated. When the incidence of the disease is small, say less than 10%, this OR value closely approximates the relative risk (RR), and therefore tells us, with good approximation, how much greater the risk of having the disease is if one is exposed to the factor. In all cases, case-control studies tend to have more confounding factors, which are not easily controllable, than prospective studies. However, under certain circumstances, they have a much higher statistical power than the prospective design.

Introduction: Given the important role of motor imagery (MI) in rehabilitation, this study aimed to compare MI abilities in individuals with spastic diplegic cerebral palsy (SDCP) and typically-developing (TD), and to determine the factors associated with MI ability in SDCP.

Patients and methods: This study was planned as a cross-sectional, case-control study. SDCP (n = 26) and TD (n = 26) individuals participated in the study. SDCP individuals were selected from Special Education and Rehabilitation Centers, while TD participants were recruited from relatives of patients receiving therapy at these centers and from volunteers responding to bulletin board announcements. All assessments were performed before or after the weekly physiotherapy sessions, to avoid interfering with routine physiotherapy and rehabilitation sessions. Visual and kinesthetic imagery abilities were assessed using the Movement imagery questionnaire for children (MIQ-C), Implicit MI capacity laterality task, and Explicit MI capacity mental chronometry.

Results: The SDCP group had a mean age of 11.69 (3.78) years, consisting of 12 females and 14 males; 10 participants were classified as Gross Motor Function Classification System (GMFCS) Level I and 16 as Level II. The TD group had a mean age of 11.50 (2.30) years, including 16 females and 10 males. A significant difference was found between the groups in MIQ-C and mental chronometry performance (p < 0.05). While there was a significant difference in reaction time according to dominance in SDCP (p = 0.038), there was no difference in accuracy rate (p = 0.699). Reaction time and accuracy rate were significantly different between groups according to dominance (p < 0.05). There was no correlation between MIQ-C total score, dominant reaction time and accuracy rate and age, Body Mass Index (BMI), and GMFCS (p > 0.05). While age and BMI were not related to mental chronometry; GMFCS was found to have a significant positive effect on mental chronometry (p = 0.000).

Conclusions: In children with SDCP MI ability differs from that of typically developing peers, being weaker across all assessed subparameters. Moreover, MI ability showed a moderate association with the GMFCS level.

Introduction: Moyamoya angiopathy is a cerebrovascular disease characterized by progressive stenosis of the intracranial internal carotid arteries. There is limited literature addressing epilepsy in this condition, especially in Western countries.

Methodology: This was a retrospective study conducted in the public hospitals of Aragón, analyzing data from all patients diagnosed with moyamoya angiopathy between 1981 and 2024. Epidemiological aspects of the disease were studied, as well as the presence of epilepsy and its management in this group of patients.

Results: A total of 26 patients were included, with an estimated prevalence in Aragón of 1.71 cases per 100,000 inhabitants. The mean age at diagnosis was 36.64 years, with an equal sex distribution. Half of the patients presented with moyamoya syndrome. Fifty percent of the patients experienced a seizure and 42.31% of the total met diagnostic criteria for epilepsy. Most seizures were focal (81.8%), with a predominance of frontal lobe semiology. Levetiracetam was the most commonly used treatment. Up to four of the twelve patients with epilepsy met diagnostic criteria for drug-resistant epilepsy.

Conclusions: Although the prevalence of moyamoya in our series was lower than in Asian populations, the prevalence of epilepsy was significantly higher (50% of patients with seizures vs 0.9-18.9% in Asian series). In our cohort, epilepsy in moyamoya angiopathy was associated with the occurrence of syncope, cognitive impairment, affective disorders, and an earlier age at diagnosis. There are no other studies available addressing the percentage of drug-resistant epilepsy in these patients.

Introduction: Lyme disease is a zoonosis caused by spirochetes of the genus Borrelia, presenting with a broad spectrum of clinical manifestations. This heterogeneity may hinder diagnosis, particularly in regions with low prevalence.

Case report: We present the case of a 65-year-old woman who attended the emergency department with a 24-hour history of diplopia upon awakening, without other neurological focal signs. Neuroborreliosis was diagnosed after identifying a history of travel to an endemic area and compatible cutaneous manifestations. Clinical progression, together with serological confirmation, enabled early diagnosis and initiation of appropriate antibiotic therapy, resulting in complete resolution of symptoms.

Conclusions: This case highlights the importance of including Lyme disease in the differential diagnosis of patients with any neurological focal signs and a history of travel to endemic regions, even in the absence of recalled tick bites or classical manifestations. Early detection and timely treatment are crucial to prevent chronic and disabling complications.

Purpose: Acute basilar artery occlusion (BAO) correlates with high risks of disability and mortality, and the best imaging and treatment strategies for BAO remain controversial. This study evaluated the association between baseline imaging, clinical variables, and clinical outcomes of patients with BAO undergoing endovascular therapy (EVT).

Methods: Data from 75 patients with BAO who had EVT at a single center were retrospectively analyzed. Baseline National Institutes of Health Stroke Scale (NIHSS) scores, clinical baseline data, and various known scores and perfusion deficit volumes on non-contrast computed tomography (NCCT), CT angiography source images (CTA-SI), and CT perfusion (CTP) were collected to explore effective predictive factors for prognosis. The functional outcome of the analysis was satisfactory (90-day modified Rankin Scale score ≤3). Predictors of functional outcomes were assessed through receiver operating characteristic analyses and binary logistic regression.

Results: Among the 75 patients who fulfilled the inclusion criteria, 29 achieved a good outcome (39%) and 46 (61%) achieved a poor outcome. The Critical Area Perfusion Score (CAPS), pons midbrain index (PMI), time to maximum (Tmax) >6 s, Tmax >10 s, and reduction in CBF compared with normal brain tissue (rCBF) <30%, cerebral blood flow (CBF), cerebral blood volume (CBV), and mean transit time (MTT) Posterior Circulation Alberta Stroke Program Early CT Score (pc-ASPECTS) were independent predictors of favorable prognosis. The CAPS was the best predictor of good clinical outcomes, with an area under the curve of 0.862 (95% confidence interval [CI], 0.772-0.952). Combined diagnosis with the baseline NIHSS score improved the prognosis prediction accuracy.

Conclusions: In patients with stroke that resulted in BAO after EVT, CAPS, PMI, Tmax >6 s, Tmax >10 s, rCBF <30% volume, and CBV pc-ASPECTS were excellent predictors of higher risk of disability and mortality. Furthermore, CAPS had the best accuracy, and overall predictive value could be improved when combined with the baseline NIHSS score for diagnosis.

Background: West Nile virus (WNV) is a flavivirus primarily transmitted by mosquitoes of the Culex genus and is endemic to Southern Europe. Although infection is usually asymptomatic, it can lead to neuroinvasive syndromes with high morbidity and mortality. Due to the increasing incidence driven by climatic factors, we present a single-center series examining short- and long-term functional outcomes after infection.

Methods: Patients with neurological symptoms and confirmed WNV infection through serology and/or detection in urine and/or cerebrospinal fluid (CSF) between 2017 and 2023 were included. Data on demographics, medical history, symptoms, diagnostic workup, treatment, and prognosis at discharge, 12 months, and 24 months were analyzed. Patients were categorized based on whether they required intensive care unit (ICU) admission, CSF biochemistry, and treatment employed, among other factors.

Results: Forty patients with a median age of 65 years (45% female) were included; 8% were immunosuppressed. Fever was present in 95%, and 85% experienced prodromal symptoms. Altered consciousness (73%) was the most common neurological symptom. ICU admission was required in 33% of cases, and mechanical ventilation in 25%. In-hospital mortality was 15%. At 24 months, 48% maintained good functional status, with a median follow-up of 35 months. Diagnostic and therapeutic interventions did not influence prognosis.

Conclusions: Although neuroinvasive WNV disease is rare, it carries significant morbidity and mortality, with no specific therapeutic measures impacting outcomes. Prioritizing efforts to control infection spread is critical.

Introduction: We present the case of a patient with a de novo heterozygous probably pathogenic variant c.545C>T (p.Thr182Ile) in the GNAO1 gene that is probably pathogenic in relation to a neurodevelopmental disorder and movement disorder.

Case report: A female patient who started at 3 months with severe neurodevelopmental delay, and subsequently myoclonus, orofacial dyskinesia, and choreoathetosis, without seizures. Metabolic and structural causes were investigated and, finally, whole exome sequencing in trio identified a de novo heterozygous, probably pathogenic, variant c.545C>T (p.Thr182Ile) in the GNAO1 gene.

Conclusions: Early recognition of neurodevelopmental delay and abnormal movements are determinants of an etiological approach to a neurological disorder. The use of whole exome sequencing should be promoted if a structural and metabolic diagnosis has been ruled out as the identification of a specific condition affects its management and prognosis, and guides genetic counseling.