Association of ictal aphasia with hypoperfusion in language areas in temporal lobe epilepsy patients.

Ictal clinical phenomenology, including aphasia, is usually associated with increased regional cerebral perfusion. We present an unusual pattern of ictal cerebral perfusion in three patients with pharmacoresistant, lesional temporal lobe epilepsy and ictal/postictal aphasia studied with prolonged video-EEG, ictal, and interictal SPECT and MRI for pre-surgical evaluation. Subtraction of ictal-interictal SPECT images co-registered with MRI (SISCOM) showed ictal hyperperfusion in the temporal epileptogenic area in all patients. In addition, hypoperfusion of Broca's area in one case, Wernicke's area in other patient, and both areas in the remaining one were observed. Ictal aphasia in these patients may be explained by functional inhibition of a primary language area, driven by the epileptogenic network. This pattern can contribute to understand the pathophysiology of some ictal signs, with an impact on the evaluation of individual surgical risks.

Grado de concordancia en una serie de informes de electroencefalogramas ambulatorios del Departamento de Neurofisiología Clínica del Hospital de Clínicas / Coefficient of agreement in a series of reports for ambulatory electroencephalograms at the clinical neurophisiology department of Clinicas Hospital / Grau de concordância em uma série de relatórios de eletroencefalogramas ambulatoriais do Departamento de Neurofisiologia Clínica do Hospital de Clínicas

El electroencefalograma (EEG) es una técnica neurofisiológica encargada de analizar la actividad cerebral utilizada con fines diagnósticos en la epilepsia, pero también en pacientes con encefalopatías agudas y crónicas no epilépticas. Su interpretación debe realizarse por médicos especializados en el área con una formación correcta, actualizada y homogénea para evitar conclusiones disimiles y términos en desuso. Para conocer dentro de una unidad de Neurofisiología Clínica de manera objetiva cómo se interpreta un EEG y su concordancia, comparamos una serie de estudios de EEG ambulatorios a través del grado de concordancia o Kappa entre los observadores. Creemos que es importante conocer las similitudes o diferencias inter observador a fines de corregir los problemas observados y mejorar la calidad asistencial.

An electroencephalogram (EEG) is a neurophysiological technique that measures electrical activity in the brain for diagnostic purposes in epilepsy, and in patients with nonepileptic acute and chronic encelopathies. This test must be performed by physicians who are specialized in the area and have the appropriate updated and uniform training, in order to avoid dissimilar conclusions and outdated terms. We compared a series of ambulatory EEG by analyzing the Kappa or coefficient of agreement rate among observers to objectively learn how an EEG is interpreted and about agreement rates at the Neurophisiology Clinic. We believe it is important to learn about interobserver similarities and differences to allow for the correction of problems noticed and improve the quality of care. Coefficient of agreement in a series of reports for ambulatory electroencephalograms at the clinical neurophisiology department of Clinicas Hospital.

O eletroencefalograma (EEG) é uma técnica neurofisiológica utilizada no estudo da atividade cerebral utilizada no diagnóstico em epilepsia, mas também em pacientes com encefalopatias não epilépticas agudas e crônicas. Sua interpretação deve ser realizada por médicos especialistas na área com formação correta, atualizada e homogênea para evitar conclusões díspares e termos obsoletos. Para conhecer como um EEG e sua concordância são interpretados objetivamente dentro de uma unidade de Neurofisiologia Clínica, comparamos uma série de estudos EEG ambulatoriais através do grau de concordância ou Kappa entre observadores. Acreditamos que é importante conhecer as semelhanças ou diferenças interobservadores para corrigir os problemas observados e melhorar a qualidade do atendimento.

SPECT activation patterns in psychogenic non-epileptic seizures in temporal lobe epilepsy patients.

INTRODUCTION: The diagnosis of psychogenic non-epileptic seizures (PNES) can often be challenging. When video-electroencephalography (EEG) is not conclusive, single-photon emission computed tomography (SPECT) can be useful by quantifying changes in regional cerebral blood flow (rCBF). METHODS: We conducted a retrospective case-control study in adult patients with pharmacoresistant temporal lobe epilepsy (TLE). Those patients with an ictal SPECT obtained during an event finally diagnosed as PNES were included as cases (PNES+). The control group consisted of patients with TLE without PNES (PNES-). Clinical episodes were analysed and classified according to PNES subtypes. Subtraction ictal SPECT coregistered to MRI (SISCOM) analysis was performed for the detection of areas with significant changes in perfusion compared to individual interictal studies. Group comparisons in SPM12 included paired t-tests of ictal vs. interictal studies in each group of temporal lobe seizures and PNES events. RESULTS: Ten patients with TLE and PNES were included. We found no patterns of regional hyperperfusion typical of TLE seizures during the PNES events. In two of these cases, an ictal SPECT during a confirmed epileptic seizure was also obtained, showing antero-mesial temporal lobe hyperperfusion. Group comparisons between ictal and interictal SPECTs showed increased rCBF in the temporal lobe with reduced perfusion in the default mode network areas and cerebellum during temporal lobe seizures in PNES- patients and decreased perfusion restricted to the posterior parietal cortex without significant rCBF increases in PNES events. CONCLUSIONS: Ictal SPECT can be a helpful tool to characterize rCBF changes in PNES and for differential diagnosis with seizures in TLE patients.

Cognitive tasks as provocation methods in routine EEG: a multicentre field study.

This study aimed to analyse the effect of neuropsychological activation methods on interictal epileptiform discharges, compared to standard activation methods, for both focal and generalized epilepsies. This was a multicentre, prospective study including 429 consecutive EEG recordings of individuals with confirmed or suspected diagnosis of epilepsy. Neuropsychological activation included reading aloud in foreign and native language, praxis and a letter cancelation task (each with a duration of three minutes). After counting interictal discharges in three-minute time windows, activation and inhibition were assessed for each procedure, accounting for spontaneous fluctuations (95% CI) and compared to the baseline condition with eyes closed. Differences between generalized and focal epilepsies were explored. Interictal epileptiform discharges were present in 59.4% of the recordings. Activation was seen during hyperventilation in 31%, in at least one neuropsychological activation method in 15.4%), during intermittent photic simulation in 13.1% and in the resting condition with eyes open in 9.9%. The most frequent single cognitive task eliciting activation was praxis (10.3%). Lasting activation responses were found in 18-25%. Significant inhibition was found in 88/98 patients with baseline interictal epileptiform discharges, and was not task-specific. Adding a brief neuropsychological activation protocol to the standard EEG slightly increased its sensitivity in patients with either focal or generalized epilepsy. However, in unselected epilepsy patients, this effect seems only exceptionally to result in ultimate diagnostic gain, compared to standard procedures. From a diagnostic perspective, cognitive tasks should be reserved for patients with a suspicion of cognitive reflex epilepsy/seizures and probably require longer exposure times. Further research is needed to explore potential therapeutic applications of the observed inhibition of interictal epileptiform discharges by cognitive tasks in some patients.

Applicability and contribution of the new ILAE 2017 classification of epileptic seizures and epilepsies.

The aim of the study was to evaluate the clinical applicability of the 2017 ILAE classification of seizures and epilepsies through the analysis of a sample of 100 outpatients with a diagnosis of epilepsy. All clinical charts were reviewed applying both the 1981/1989 and 2017 classifications of seizures and epilepsies, respectively. For most focal seizures, descriptors were required to include all the relevant clinical information. The reclassification of complex partial seizures into focal seizures with impaired awareness with a motor / non-motor onset allowed the inclusion of features of topographic value, although the chronological sequence of awareness impairment was lacking. The use of the term "focal to bilateral tonic-clonic" reduced the number of seizures classified as generalized tonic-clonic seizures (GTCS) by 19%. A subset of GTCS (35%) and absence seizures (12.5%) were reclassified as seizures of unknown onset. Most focal symptomatic epilepsies (92%) were reclassified as focal structural epilepsies, while 27% of idiopathic generalized and 7% of focal cryptogenic epilepsies merged into the category of "epilepsies of unknown type". Major strengths of the new classification are simplicity and the role of the category "unknown onset" to avoid forced categorization. A section assigned to uncertainty reinforces the need for further ancillary studies and periodic diagnostic re-evaluation.

SÍNDROME DE MELAS COMO CAUSA INHABITUAL DE ACV ISQUÉMICO: Presentación de un caso clínico / MELAS SYNDROME as unusual ischemic stroke CAUSE: Presentation of a clinical case

Las mitocondriopatías son un amplio espectro de patologías caracterizadas por un metabolismo mitocondrial anómalo. Dentro de estas enfermedades se incluye la MELAS, cuya sigla en inglés significa encefalomiopatía mitocondrial, acidosis láctica y episodios “stroke-like”. Se trata de un síndrome de presentación clínica heterogénea que debe considerarse como causa inhabitual de accidente cerebro vascular-símil en los pacientes jóvenes. La resonancia magnética puede otorgar la clave diagnóstica al mostrar áreas de isquemia cerebral sin respeto de los territorios vasculares arteriales. La biopsia muscular con el hallazgo de las fibras rojas rasgadas puede sugerir enfermedad mitocondrial. El diagnóstico definitivo de MELAS se realiza mediante análisis genético por demostración de mutaciones en el ADNm. Se presenta el primer caso clínico confirmado de MELAS con episodios “stroke-like” en la edad adulta reportado en nuestro país

Mitochondriopathies are a wide spectrum of diseases characterized by abnormal mitochondrial metabolism. Within these diseases is the MELAS, whose acronym means mitochondrial encephalomyopathy, lactic acidosis and "stroke-like" episodes. It is a syndrome of heterogeneous clinical presentation that should be considered as an unusual cause of stroke in young patients. Brain MRI can provide the diagnostic key with areas of ischemia without respect for arterial vascular territories. Muscle biopsy may suggest mitochondrial disease with the finding of ragged red fibers. The definitive diagnosis of MELAS is done through genetic analysis with mutations in the mtDNA. We described the first clinical confirmed case of MELAS with "stroke-like" episodes in adulthood reported in our country.

Empiema epidural espinal: clínica, diagnóstico y tratamiento a propósito de tres casos / Spinal epidural empyema: clinical, diagnosis and treatment with regard to three cases

El empiema epidural espinal (EEE) es una infección supurada del sistema nervioso central, predomina en el sexo masculino y en la edad media de la vida. El microorganismo mayormente implicado es Staphylococcus aureus. Alcanza el espacio epidural por contigüidad, inoculación directa o diseminación a distancia. Se manifiesta con fiebre, dolor espinal y déficit neurológico. Se presentan tres casos de EEE y se realizan consideraciones clínicas, microbiológicas y terapéuticas.

Abstract Spinal epidural empyema is a suppurating infection of the central nervous system, more frequent in male patients and during the midlife stage. Staphylococcus aureus is the most commonly found microorganism. It reaches the epidural space extending contiguously, by direct inoculation or distant spread. It manifests with fever, spinal pain and neurological deficit. Three cases of spinal epidural empyema are presented and clinical, microbiological and therapeutic considerations are made.

Resumo O empiema epidural espinal (EEE) é uma infecção supurada do sistema nervoso central, predominante no sexo masculino e na meia idade. O micro-organismo implicado na maioria dos casos é o Staphylococcus aureus. Atinge o espaço epidural por contiguidade, inoculação direta ou disseminação a distancia. Manifesta-se com febre, dor espinal e déficit neurológico. Apresentam-se três casos de EEE e fazem-se considerações clínicas, microbiológicas e terapêuticas.

Enfermedad de Pompe: primer caso de inicio en el adulto descrito en Uruguay confirmado genéticamente / Pompe’s Disease: first genetically confirmed case with adult onset reported in Uruguay

La enfermedad de Pompe (EP), también conocida como déficit de maltasa ácida y glucogenosis tipo II, es una enfermedad por depósito de glucógeno consecuencia del déficit de la enzima alfa glicosidasa ácida lisosomal (GAA), no obstante, alteraciones en los mecanismos de autofagia también determinan la patogenia de la enfermedad. Sus manifestaciones son principalmente a nivel del músculo esquelético y cardíaco aunque también hay compromiso extramuscular. La misma es de evolución progresiva y con un patrón de herencia autosómico recesivo. Existen dos formas clínicas principales que son la EP infantil, con o sin miocardiopatía y la forma de inicio tardío. El diagnóstico se realiza demostrando la actividad descendida de la GAA con la técnica de la gota de sangre seca, complementando con un segundo análisis de la actividad enzimática o análisis genético. El tratamiento disponible actualmente es la terapia de remplazo enzimático con GAA recombinante humana (rhGAA). Se describe el primer caso de Enfermedad de Pompe en el adulto en Uruguay confirmado genéticamente.

Pompe disease in Uruguay. The first case in an adult genetically confirmed. Pompe disease, also known as type II glycogenosis, is a progressive autosomal recesive glycogen storage disease caused by a deficiency of lysosomal acid-a-glucosidase (GAA), primarily in skeletal and cardiac muscle, and by defects in autophagy, with an age of onset ranging from infancy through adulthood. In adult onset the tipical presentation is with a limb girdle dystrophy pattern (that engaged especially the hip girdle) or dyspnea secondary to diaphragm weakness. A simple blood-based assay to measure the level of α-glucosidase activity, like dried blood spot test, is the optimal initial test and is needed a second test to confirm the disease (alpha glucosidasa activity in cultured fibroblast or muscle tissue or by genetic testing). An early diagnosis of Pompe disease will improve patient outcomes as care standards including enzyme replacement therapy can be applied and complications can be anticipated. The introduction of enzyme replacement therapy for GAA deficiency using recombinant human GAA (rhGAA) changed the course of the disease with an improvement especially in infantile forms but also in late onset Pompe disease. We describe our first case of adult onset Pompe disease in Uruguay.

Hematoma espinal extradural espontáneo / Spontaneous extradural spinal haematoma

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[Spontaneous extradural spinal haematoma]. / Hematoma espinal extradural espontaneo.

TITLE: Hematoma espinal extradural espontaneo.

Ataque cerebrovascular isquémico en Uruguay: comunicación de los primeros 34 casos trombolizados en el Hospital de Clínicas / Ischemic stroke in Uruguay. First 34 cases of thrombolized patients at the Clinicas Hospital

Introducción: el ataque cerebrovascular (ACV) constituye un problema de salud en Uruguay y en el mundo. Se ha comprobado que la trombolisis intravenosa disminuye la morbimortalidad y las secuelas en los pacientes con ACV isquémicos agudos (nivel de evidencia IA). Objetivos: analizar los casos de ACV isquémico trombolizados en el Hospital de Clínicas y valorar la utilidad de un score de predicción de sangrado intracraneano sintomático en esta población. Material y método: estudio descriptivo, observacional y prospectivo. Población: pacientes trombolizados en el Hospital de Clínicas en el período 2010-2013. Se aplicó score predictivo de hemorragia sintomática a toda la población de trombolizados. Tests estadísticos: test de chi cuadrado, test de student, test de Wilcoxon, se consideraron diferencias estadísticamente significativas aquellas con una p < 0,05. Resultados: treinta y cuatro pacientes trombolizados, promedio de edad 67 años, mayoría mujeres, alto porcentaje de ACV graves, National Institute of Health Stroke Scale (NIHSS) promedio al ingreso: 11, con mejoría estadísticamente significativa al alta. Etiología principal: cardioembolia. Tiempo síntoma aguja promedio: 170 minutos. Hemorragia intracraneana: ocho pacientes (23,5%), fallecieron cuatro de ellos. El puntaje del score de sangrado no predijo el sangrado intracraneano. Conclusiones: en el Hospital de Clínicas, desde la inauguración de la Unidad de ACV, el porcentaje de infartos cerebrales trombolizados ha ido en aumento, siendo actualmente comparable a cifras internacionales. El tiempo síntoma-aguja es menor que en otros estudios. La trombolisis generó un beneficio estadísticamente significativo en la escala de NIHSS. El porcentaje de sangrados fue similar al descrito en la literatura...