Revista de neurologia最新文献

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.

Background: Computed tomography perfusion (CTP) is a widely available imaging test in the initial assessment of acute neurological symptoms. Acute isolated aphasia is a common symptom in this group of patients, in whom an etiopathogenic diagnosis can be challenging. The aim of this study was to assess the usefulness of CTP for the initial management of this syndrome, and to evaluate whether the detection of certain perfusion patterns can be valuable in the diagnostic process.

Methods: CTP scans performed in our hospital between 2019 and 2022 were retrospectively analyzed. Individuals with acute isolated aphasia who attended the emergency department within this period were included. Diagnostic, demographic, clinical, neuroimaging, electroencephalography (EEG), other complementary test, and follow-up data were collected.

Results: Of the 1880 CTP exams performed, 175 (9.3%) patients presented with acute isolated aphasia, 50% of whom were female, with a median age of 71.5 (Interquartile range (IQR) 61-80) years. The etiology was vascular in 91 (52%) patients, epileptic in 26 (14.9%) patients, and due to other causes in 58 (33.1%) patients. Differences in perfusion patterns were detected between the different etiologies (p < 0.001), particularly in cases of epileptic origin, where hyperperfusion had a high positive predictive value for status epilepticus (83%). In this series, concrete clinical conditions such as National Institutes of Health Stroke Scale (NIHSS) score at admission and discharge, altered mental status, and fever at onset of symptoms were associated with a specific etiology.

Conclusions: CTP imaging is a valuable diagnostic tool for acute isolated aphasia, enabling the optimization of acute treatment in these patients, particularly in status epilepticus and stroke.

Introduction and objectives: To evaluate the impact of intensive gait training on gross motor function using the pediatric exoskeleton ATLAS 2030, as well as to determine the post-intervention maintenance of effects in children with cerebral palsy (CP).

Subjects and methods: A non-randomized controlled prospective study. Thirteen children with CP participated. A program of four weekly sessions lasting 65 minutes each was implemented over six weeks. Gross motor function was assessed using the 88 items Gross Motor Function Measure (GMFM-88); physical exercise endurance was measured with the Six-Minute Walk Test (6MWT) using the device; the number of steps walked in each session and mode of use was recorded to evaluate adaptation to the activity. Three evaluations were conducted: before treatment, at the end of treatment (6 weeks), and a follow-up evaluation at 12 weeks.

Results: The total GMFM-88 score showed significant changes at the end of the intervention (p < 0.001), which persisted at follow-up (p < 0.001). The number of steps in automatic and active modes increased significantly after the intervention (p < 0.001) and were maintained at follow-up (p = 0.001). Lastly, the 6MWT improved significantly after the intervention, with a reduction observed at follow-up (p < 0.001).

Conclusions: Six weeks of intensive training with ATLAS 2030 positively impacts the gross motor function of children with CP, with benefits increasing six weeks after treatment completion. Physical endurance and adaptation to the activity improve with continued use. These results support the potential of ATLAS 2030 as an intensive therapeutic strategy for this population.

Clinical trial registration: No: NCT07066956. https://clinicaltrials.gov/search?cond=NCT07066956.

Background: microRNA-494 (miRNA-494) plays a key role in neuroinflammation following cerebral ischemia. We aimed to assess miRNA-494 levels as a biomarker for predicting acute ischemic stroke (AIS) severity and outcomes.

Methods: miRNA-494 levels in peripheral lymphocytes were measured using reverse transcription-quantitative polymerase chain reaction. Least Absolute Shrinkage and Selection Operator (LASSO) regression was employed to identify variables for multivariate logistic regression analysis. Univariate and multivariate logistic regression were conducted to assess the association between miRNA-494 levels and both AIS outcomes and stroke severity on admission. The primary outcome was defined as an excellent prognosis (modified Rankin Scale score of 0 or 1). The secondary outcome was milder stroke severity at admission (National Institutes of Health Stroke Scale score <15).

Results: High miRNA-494 expression in patients aged <65 years predicted excellent AIS outcomes (odds ratio (OR) = 2.800 [1.120-7.002], p = 0.028, n = 105). In these patients, miRNA-494 levels predicted excellent outcomes for those who did not receive recanalization therapy (continuous: OR = 8.938 [2.123-62.910], p = 0.010; categorical: OR = 5.200 [1.480-20.773], p = 0.013). Elevated miRNA-494 levels were also linked to milder stroke severity (continuous: OR = 2.586 [1.024-6.533], p = 0.044; categorical variables: OR = 3.514 [1.501-8.230], p = 0.004, n = 205).

Conclusions: Increased miRNA-494 expression in lymphocytes predicts excellent outcomes in patients aged <65 years with AIS. Higher miRNA-494 levels are associated with milder stroke on admission.

Introduction: The advancement of artificial intelligence (AI), particularly generative AI, has significantly transformed the field of medicine, impacting healthcare delivery, medical education, and research. While the opportunities are substantial, the implementation of AI also raises important ethical and technical challenges, including risks related to data bias, the potential erosion of clinical skills, and concerns about information privacy.

Development: AI has demonstrated great potential in optimizing both clinical and educational processes. However, its operation based on probabilistic prediction is inherently prone to errors and biases. Healthcare professionals must be aware of these limitations and advocate for a transparent, responsible, and safe integration of AI, while maintaining full ethical and legal responsibility for clinical decisions. It is essential to safeguard traditional clinical competencies and prioritize the use of AI in automating low-value, repetitive tasks. In biomedical research, transparency and independent validation are crucial to ensure the reproducibility of findings. Similarly, in medical education, structured training in AI is vital to enable professionals to apply these tools safely and effectively in clinical practice.

Conclusions: Generative AI offers a transformative potential for medicine, but its adoption must be guided by rigorous ethical standards. Comprehensive training, risk mitigation, and the preservation of core clinical skills are essential pillars for its responsible implementation. This transformation must be led by the medical profession to ensure a patient-centered approach to care.