A case of febrile infection-related epilepsy syndrome (FIRES) in young adult: still a diagnostic and therapeutic challenge.

A new onset of status epilepticus in a previously healthy adult preceded by a recent minor febrile infection represents a diagnostic and therapeutic challenge in clinical practice. Considering the broad spectrum of epileptic encephalopathies caused by autoimmune mechanisms, differential diagnosis for new-onset refractory status epilepticus (NORSE) should include febrile infection-related epilepsy syndrome (FIRES), in order to not underestimate the underlying etiological condition triggering epilepsy in non-epileptic patients (Hon et al. in Recent Pat Inflamm Allergy Drug Discov 12:128-135, 2018). We report a case of acute encephalopathy with refractory seizures after a febrile illness (FIRES) in a young adult with complete remission of symptoms as well as dramatic improvement of EEG abnormalities following intravenous immunoglobulin and proper antiepileptic medications. We conducted an extensive workup including lumbar puncture, blood tests, EEG serial monitoring, MRI brain, total body CT scan, and PET brain with FDG to shed light on the etiology of the disease.

Prevalence of Neural Autoantibodies in Paired Serum and Cerebrospinal Fluid in Adult Patients with Drug-Resistant Temporal Lobe Epilepsy of Unknown Etiology.

In order to determine the prevalence of neural autoantibodies in adult patients with drug-resistant temporal lobe epilepsy (DRTLE) of unknown etiology, we compared the characteristics of patients with and without autoantibodies and applied antibody predictive scores to the patients. Patients aged ≥18 years with DRTLE of unknown etiology and ≥12 months of evolution were prospectively recruited. Neural autoantibodies in serum and CSF were systematically determined in all patients. We created the ARTE (antibody in drug-resistant temporal lobe epilepsy) score based on the variables associated with the presence of neural autoantibodies. Twenty-seven patients were included. The mean (SD) age in years at the index date was 52 (±14.2) and at epilepsy onset was 32 (±17.1). The mean epilepsy duration was 19 (±12.5) years. Neural autoantibodies were detected in 51.85% (14/27) of patients. The presence of bitemporal, independent, interictal epileptiform discharges (BIIED) had a higher frequency in patients with neural autoantibodies (57.1% vs. 15.4%; p = 0.025) as well as those patients with a previous history of status epilepticus (49.2% vs. 0.0%; p = 0.007). The ARTE score showed an area under the curve (AUC) of 0.854. Using a cut-off point of ≥1, the sensitivity was 100% and the specificity was 46.1%, whereas when using a cut-off point of ≥3, the results were 35.7% and 100%, respectively. We found a high prevalence of neural autoantibodies in patients with DRTLE of unknown etiology, indicating an autoimmune mechanism. The presence of BIIED and a history of SE in DRTLE of unknown etiology are possible markers for autoimmune-associated epilepsy. The proposed ARTE score requires future validation in larger independent cohorts.

Relationship between sleep quality and cognitive performance in patients with epilepsy.

PURPOSE: To investigate the relationship between self-reported sleep quality and cognitive function in patients with epilepsy (PWE), as well as anxiety and depressive symptoms and patient quality of life (QoL). METHODS: This multicenter cross-sectional study included PWE aged ≥12 years who were receiving ≥1 anti-seizure medication (ASM) and had not been diagnosed with a sleep disorder. Patients completed the Pittsburgh Sleep Quality Index (PSQI), the Epworth Sleepiness Scale (ESS), the Montreal Cognitive Assessment test (MoCA), the Hospital Anxiety and Depression Scale (HADS), and the Quality of Life in Epilepsy Inventory-10 (QOLIE-10). RESULTS: The study enrolled 150 patients aged 16-83 years, mean age (standard deviation [SD]) 40.6 (15.2) years; 58.7% were female and 75.3% had focal epilepsy. Mean (SD) PSQI score was 4.71 (3.08), 44.4% of patients had impaired sleep quality (PSQI score ≥5), 19.9% had pathologic excessive daytime sleepiness (ESS score >12), and 32.7% had mild cognitive impairment (MoCA score <26). Within the PSQI, sleep disturbance (P = 0.036) and use of sleep medication (P = 0.006) scores were significantly higher in patients with mild cognitive impairment. Multiple regression analysis showed older age (regression coefficient [B], -0.086; 95% confidence interval [CI], -0.127, -0.045; P < 0.001) and the use of sleep medication component of the PSQI [B, -1.157; 95% CI, -2.064, -0.220; P = 0.013) were independently associated with lower MoCA score. Poor sleep quality was associated with probable anxiety and depression symptoms, and directly correlated with reduced QoL. CONCLUSIONS: In PWE, sleep quality was not significantly independently associated with mild cognitive impairment, although poor sleep quality had a negative effect on mood and QoL.

Comunicación terapéutica en la Esclerosis Lateral Amiotrófica: la enfermera gestora de casos al final de la vida / Therapeutic communication in Amyotrophic Lateral Sclerosis: case management at the end of life

La Esclerosis Lateral Amiotrófica (ELA) es una enfermedad neurodegenerativa caracterizada por una evolución rápida y mortal, produciendo un gran impacto emocional tanto en el paciente, como en su familia. El papel de la enfermera Gestora de Casos en el seguimiento, evaluación y control del paciente y su familia desde el diagnóstico de ELA, y como principal referente experta en cuidados, la posiciona como referente de nexo de unión del equipo multidisciplinar y la unidad familiar. Su papel dentro del equipo interdisciplinar ayuda a mejorar la asistencia que el cuidador familiar proporciona, evitando la sobrecarga del rol de cuidador, aumentando la seguridad del paciente, y por tanto la calidad de vida de ambos, mejorando así también la comunicación e información y la satisfacción familiar. En la práctica, resulta complicado mantener una continuidad de cuidados integrales a lo largo de todo el proceso de la enfermedad, desde el diagnóstico, hasta los últimos días. (AU)

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease characterized by rapid and fatal evolution, producing a great emotional impact on both the patient and their family. The role of the Nurse Case Manager in the monitoring, evaluation, and control of the patient and their family from the diagnosis of ALS, and as the main expert reference in care, positions her as a point of reference for the union of the multidisciplinary team and the family unit. Their role within the interdisciplinary team helps to improve the assistance that the informal caregiver provides, avoiding the overload of the caregiver role, increasing patient safety, and therefore the quality of life for both, thus also improving communication and information and family satisfaction. In practice, it is difficult to maintain a continuity of comprehensive care throughout the disease process, from diagnosis to the last days. (AU)

MONOZEB: Long-term observational study of eslicarbazepine acetate monotherapy.

AIM: The aim of the study was to evaluate the effectiveness and tolerability of eslicarbazepine acetate (ESL) when used as monotherapy for 1 year or more in routine clinical use in patients with focal seizures in epilepsy clinics in Spain. METHODS: This is a retrospective, observational, noninterventional study. Eligible patients were aged ≥18 years, had focal seizures, and started on ESL ≥1 year before database closure. Primary endpoint was the following: proportion seizure-free for ≥6 months at 1 and 2 years. Secondary endpoints included retention on ESL monotherapy at 1 and 2 years, seizure frequency change, seizure worsening, and side effects. Other analyses included seizure freedom from baseline to 1 and 2 years and outcomes in special populations. RESULTS: Four hundred thirty-five patients were included (127 on first-line monotherapy and 308 converting to ESL monotherapy): median daily dose was 800 mg at all time points; 63.2% were seizure-free at 1 year, 65.1% at 2 years, and 50.3% for the entire follow-up. Mean duration of ESL monotherapy was 66.7 months; retention was 88.0% at 1 year and 81.9% at 2 years. Mean reduction in seizure frequency was 75.5% at last visit. Over the entire follow-up, seizure worsening was seen in 22 patients (5.1%), side effects in 28.0%, considered severe in 1.8%, and leading to discontinuation in 5.7%. Dizziness, hyponatremia (sodium <135 mEq/l), and somnolence were the most frequent side effects. Outcomes in special populations (patients aged ≥65 years and those with psychiatric history or learning difficulty) were consistent with the overall population. CONCLUSIONS: Patients with focal seizures taking ESL monotherapy had excellent retention, high seizure-free rates, and good tolerability up to 2 years.

Adult Prevalence of Epilepsy in Spain: EPIBERIA, a Population-Based Study.

BACKGROUND: This study assesses the lifetime and active prevalence of epilepsy in Spain in people older than 18 years. METHODS: EPIBERIA is a population-based epidemiological study of epilepsy prevalence using data from three representative Spanish regions (health districts in Zaragoza, Almería, and Seville) between 2012 and 2013. The study consisted of two phases: screening and confirmation. Participants completed a previously validated questionnaire (EPIBERIA questionnaire) over the telephone. RESULTS: A total of 1741 valid questionnaires were obtained, including 261 (14.99%) raising a suspicion of epilepsy. Of these suspected cases, 216 (82.75%) agreed to participate in phase 2. Of the phase 2 participants, 22 met the International League Against Epilepsy's diagnostic criteria for epilepsy. The estimated lifetime prevalence, adjusted by age and sex per 1,000 people, was 14.87 (95% CI: 9.8-21.9). Active prevalence was 5.79 (95% CI: 2.8-10.6). No significant age, sex, or regional differences in prevalence were detected. CONCLUSIONS: EPIBERIA provides the most accurate estimate of epilepsy prevalence in the Mediterranean region based on its original methodology and its adherence to ILAE recommendations. We highlight that the lifetime prevalence and inactive epilepsy prevalence figures observed here were compared to other epidemiological studies.

[Eslicarbazepine acetate in clinical practice. Efficacy and safety results]. / Acetato de eslicarbazepina en la practica clinica. Resultados de eficacia y seguridad.

INTRODUCTION. Eslicarbazepine acetate (ESL) is a new antiepileptic drug (AED) licensed in Spain in February 2011 as an adjunctive therapy in adults with partial seizures with or without secondary generalization. Clinical trials with ESL have demonstrated acceptable efficacy and safety. AIM. To evaluate the results of ESL in our epilepsy unit during its first year of clinical experience with this AED. PATIENTS AND METHODS. We included all patients who started treatment with ESL at our epilepsy unit from March 2011 to May 2012. We collected the following variables: gender, aetiology of epilepsy, epileptogenic area, reason for switch to ESL, clinical response after initiation of ESL, adverse effects of ESL, refractoriness criteria and treatment discontinuation. A bivariate factor-to-factor correlation study was carried out to establish associations between the independent variables and the clinical response. RESULTS. We recruited 105 patients (51.4% male). 20,7% of patients remained seizure-free and 58.4% showed > 50% improvement after introduction of ESL. At 6 months, 18.1% had experienced some type of side effect, with cognitive disorders being the most common, and 11.5% had discontinued treatment. Combination with lacosamide proved to be significantly less effective in the control of seizures. Combination of ESL with the rest of sodium channel inhibitors was similar in efficacy to others combinations. CONCLUSIONS. ESL is a well-tolerated and effective AED when is used as adjunctive treatment with most of other AED in clinical practice.

Acetato de eslicarbazepina en la práctica clínica. Resultados de eficacia y seguridad / Eslicarbazepine acetate in clinical practice. Efficacy and safety results

Introducción. El acetato de eslicarbazepina (ESL) es un nuevo fármaco antiepiléptico aprobado en España en febrero de 2011 como tratamiento adyuvante en adultos con crisis parciales, con o sin generalización secundaria. Los ensayos clínicos con ESL han demostrado una aceptable eficacia y seguridad. Objetivo. Evaluar los resultados de la ESL tras el primer año de experiencia en la práctica clínica. Pacientes y métodos. Incluimos a todos los pacientes que, habiendo iniciado tratamiento con ESL entre marzo de 2011 y mayo de 2012 en nuestra unidad, habían completado los seis meses de tratamiento continuado. Se recogieron siete variables independientes clínicas y demográficas. Se realizó un análisis de correlación bivariante factor a factor para establecer las posibles asociaciones entre las variables independientes recogidas y la respuesta clínica. Resultados. Incluimos un total de 105 pacientes (el 51,4%, hombres). El 58,4% mostró una mejoría superior al 50% en el número de crisis tras la introducción de la ESL (el 20,7% quedó libre de crisis). Al cabo de seis meses, un 18,1% experimentó algún tipo de efecto adverso, siendo los más frecuentes las quejas cognitivas, y un 11,5% abandonó el tratamiento. La combinación con lacosamida mostró menos eficacia estadística en el control de las crisis que el resto de las combinaciones. La combinación de ESL con el resto de los inhibidores de los canales del sodio no mostró diferencias significativas de eficacia. Conclusiones. La ESL constituye un fármaco antiepiléptico con buena tolerancia, y con una tasa de efectos adversos y de retención aceptables cuando se usa en combinación con la mayoría de los antiepilépticos disponibles (AU)

Introduction. Eslicarbazepine acetate (ESL) is a new antiepileptic drug (AED) licensed in Spain in February 2011 as an adjunctive therapy in adults with partial seizures with or without secondary generalization. Clinical trials with ESL have demonstrated acceptable efficacy and safety. Aim. To evaluate the results of ESL in our epilepsy unit during its first year of clinical experience with this AED. Patients and methods. We included all patients who started treatment with ESL at our epilepsy unit from March 2011 to May 2012. We collected the following variables: gender, aetiology of epilepsy, epileptogenic area, reason for switch to ESL, clinical response after initiation of ESL, adverse effects of ESL, refractoriness criteria and treatment discontinuation. A bivariate factor-to-factor correlation study was carried out to establish associations between the independent variables and the clinical response. Results. We recruited 105 patients (51.4% male). 20,7% of patients remained seizure-free and 58.4% showed > 50% improvement after introduction of ESL. At 6 months, 18.1% had experienced some type of side effect, with cognitive disorders being the most common, and 11.5% had discontinued treatment. Combination with lacosamide proved to be significantly less effective in the control of seizures. Combination of ESL with the rest of sodium channel inhibitors was similar in efficacy to others combinations. Conclusions. ESL is a well-tolerated and effective AED when is used as adjunctive treatment with most of other AED in clinical practice (AU)

Characteristics of temporal lobe epilepsy with no ictal impairment of consciousness.

INTRODUCTION: The predominant manifestations of temporal lobe epilepsy (TLE) are partial seizures with impairment of consciousness (type I.B of ILAE classification), although consciousness impairment is not necessary in all seizures of patients with TLE. Nevertheless, there have been very few reports of TLE patients with exclusive seizures with no impairment of consciousness (i.e. isolated auras). The objective of this study was to determine any differential characteristics of this subgroup of TLE patients. MATERIAL AND METHODS: Retrospective case-control study in 163 consecutive TLE patients from our hospital database. The patients were divided between those with and without ictal impairment of consciousness, based on directed semi-structured questionnaire to the patient and relatives and on video-EEG records. Ten independent variables (8 clinical and 2 paraclinical) were compared between the groups. RESULTS: 14 patients (8.5%) formed the "TLE without ictal impairment of consciousness" group. This group was less refractory to medical treatment [Odds Ratio: 0.14 (0.03-0.64); p<0.01] and had frequent ictal motor behaviour [Odds ratio: 5.33 (1.65-17.14); p=0.008] and less frequent presence of automatisms [p<0.001]. Non-significant tendencies were observed for a higher frequency of lesional substrate and fewer generalization episodes. DISCUSSION: TLE without ictal impairment of consciousness appears to be more frequent than previously thought. This subgroup of TLE patients shows differential characteristics that may possibly result from a differential propagation of the original epileptic activity towards frontal areas rather than towards neocortical and diencephalic structures, which may be related to the more frequent presence of structural lesions.

Predictive model for refractoriness in temporal lobe epilepsy based on clinical and diagnostic test data.

INTRODUCTION: Temporal Lobe Epilepsy (TLE) is frequently resistant to drug treatment, but a high percentage of these patients can be free of seizures after epilepsy surgery. Delay in the surgical decision has been related to quality of life impairment, social and work limitations, and increased mortality risk. A predictive model for refractoriness based on clinical and diagnostic factors may allow its earlier detection and a shorter delay before surgery. MATERIAL AND METHODS: A case-control study was conducted in TLE patients over 16 years old. The dependent variable was resistance to medical treatment according to ILAE 2010 criteria. Independent variables were clinical, semiological, therapeutic, neurophysiological, radiological, and neuropsychological variables. A multivariate study was conducted to identify the variables associated with refractoriness, calculating the positive and negative predictive values and positive likelihood ratios of these variables individually and in combination. These data were used to construct a refractoriness predictive model. RESULTS: ILAE refractoriness criteria were met by 83 patients (50.9%). In the multivariate analysis, refractoriness was significantly associated with one semiological variable, one neuroradiological variable, one neurophysiological variable, and two therapeutic variables but not with neuropsychological test outcomes. These significant variables were used to construct a predictive model. CONCLUSION: Assessment of semiological, neurophysiological, and neuroradiological data can serve to stratify the risk of refractory epilepsy in TLE patients.

Infarto cortical que simula una parálisis del nervio accesorio / Cortical infarction mimicking paralysis of the accessory nerve

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[Transient topographical amnesia: a description of a series of eight cases]. / Amnesia topografica transitoria: descripcion de una serie de ocho casos.

INTRODUCTION: Impaired memory, and more particularly spatial orientation, occurs in pathologies such as dementia, cerebrovascular accidents or traumatic brain injuries. Less frequently it also appears as a transient disorder in healthy people with no apparent brain damage, in which case it is known as transient topographical amnesia (TTA). The aim of this work is to report on a series of eight cases of TTA that were evaluated in a neurology unit. CASE REPORTS: We study the cases of eight patients diagnosed with TTA over the period 2002-2008. Patients were considered to fulfil eligibility criteria if they had presented at least one episode of spatial disorientation, with no loss of memory or consciousness, and were able to describe the events that had taken place, without any previous cognitive impairment and with a normal neurological examination. The demographic characteristics taken into account in the study were: predominance of females (75%) and a mean age of 69.13 +/- 8.79 years. The mean number of episodes was 1.75 (range: 1-3), which lasted an average of 24.5 minutes. Three of the eight patients had associated vascular risk factors. Neuroimaging studies did not reveal any relevant findings in any of the eight patients, except one case of a bilateral frontal porencephalic area resulting from a traumatic brain injury suffered in the past. Simple single-photon emission tomography and Doppler ultrasound imaging scans of the brain, as well as an electroencephalogram, were performed on two patients, the results being normal in all cases. Follow-ups were performed on all the patients, without any kind clinical change being observed, except for one patient who developed dementia at six years after the episode of amnesia. CONCLUSIONS: TTA is possibly an underdiagnosed condition which we believe should be included in the differential diagnosis of patients who are referred owing to suspected cognitive impairment.

Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations.

Vohwinkel Syndrome (VS) is a type of diffuse hereditary palmoplantar keratodermas (DHPPK) accompanied by skeletal dimorphisms and sensorineural deafness. The most frequently reported genetic substrate in VS is a point mutation of GJB2 gene, responsible for encoding connexin 26, a gap-junction protein with a crucial role in neuronal migration in rats. We report the case of a 21-year-old male who is a second-generation member of a family with VS and developed cryptogenic focal epilepsy. Genetic study showed a nucleotide change (c.196G>C) in exon 1 of GJB2 gene, producing a missense mutation, D66H. It is plausible that a functional alteration of connexin 26, such as that resulting of the mutation of our case, can produce an alteration in cortical development with epileptogenic potential. The present case and experimental evidence that connexin 26 is related to animal epileptogenesis suggest that the phenotypic spectrum of VS could be expanded to include epileptic manifestations.