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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.