[Etiology of epilepsy in Mexico: results from the national multi-centre register]. / Etiología de la epilepsia en México: resultados del registro multicéntrico nacional.

INTRODUCTION: Epilepsy affects millions of people and its geographical patterns are usually linked to etiological aspects. Our objective was to describe main etiologies of epilepsy in Mexico. PATIENTS AND METHODS: We selected patients from the Multicenter Epilepsy Registry carried out from 2021 to 2022 in 89 Mexican hospitals in 31 states, a sample predominantly of pediatric age. Only patients with electroencephalography and neuroimaging studies were included. RESULTS: We analyzed 6,653 patients with documented etiologies. Etiology frequency with confidence interval (95% CI) was: structural 46.1% (44.9-47.3), genetic 12.9% (12.1-13.7), infectious 2.9%. (2.5-3.3), metabolic 1.4% (1.1-1.7), immune 0.9% (0.8-1.3) and unknown 40.9% (39.8-42.2). The two main structural etiologies were malformations of cortical development and hypoxic-ischemic encephalopathy. Neurocysticercosis represented a minority with only 1%. Structural and genetic etiologies were associated with focal and generalized onset seizures respectively. Status epilepticus was identified, mostly with motor component, associated with immune and infectious etiologies. Comorbidities were found in 61.6%, mainly neurological development disorders. Drug-resistant epilepsy was more common in patients with immune, infectious and structural etiologies. CONCLUSIONS: The main etiology of epilepsy was structural. The frequency of genetic etiology was relatively lower than in other series, possibly due to the limited availability of genetic tests. Despite technological advances, a large fraction of epilepsies still has unknown origin.

TITLE: Etiología de la epilepsia en México: resultados del registro multicéntrico nacional.Introducción. La epilepsia afecta a millones de personas y sus patrones geográficos suelen estar vinculados a aspectos etiológicos. Nuestro objetivo fue describir las principales etiologías de epilepsia en México. Pacientes y métodos. Seleccionamos a pacientes del Registro Multicéntrico de Epilepsia realizado de 2021 a 2022 en 89 hospitales mexicanos de 31 estados, una muestra con predominio en edad pediátrica. Se incluyó a pacientes con estudios de electroencefalografía y neuroimagen. Resultados. Analizamos a 6.653 pacientes con etiologías documentadas. Las frecuencias de etiologías con intervalo de confianza al 95% fueron: estructural, 46,1% (44,9-47,3); genética, 12,9% (12,1-13,7); infecciosa, 2,9% (2,5-3,3); metabólica, 1,4% (1,1-1,7); inmunitaria, 0,9% (0,8-1,3); y desconocida, 40,9% (39,8-42,2). Las dos principales etiologías estructurales fueron las malformaciones del desarrollo cortical y la encefalopatía hipóxico-isquémica. La neurocisticercosis representó una minoría, con sólo el 1%. Las etiologías estructurales y genéticas se relacionaron con crisis de inicio focal y generalizado, respectivamente. Se identificó estado epiléptico, en su mayoría con componente motor, asociado a etiologías inmunitarias e infecciosas. Se encontraron comorbilidades en el 61,6%, principalmente trastornos del desarrollo neurológico. La epilepsia farmacorresistente fue más frecuente en pacientes con etiologías inmunitaria, infecciosa y estructural. Conclusiones. La principal etiología de la epilepsia fue estructural. La frecuencia de etiología genética fue menor que en otras series por la limitada disponibilidad de pruebas genéticas. A pesar de los avances tecnológicos, una gran parte de las epilepsias aún tiene un origen desconocido.

[Tolerability and adverse effects of propofol in the Wada test]. / Tolerabilidad y efectos adversos del propofol en la prueba de Wada.

INTRODUCTION: The Wada test consists of the selective and reversible inhibition of a cerebral hemisphere by intracarotid injection of amobarbital in order to evaluate the laterality of language and memory. However, there are other anesthetic drugs such as propofol, as an alternative for the test. OBJECTIVE: The objective of the study was to describe the tolerability and adverse effects (AE) of the use of propofol for the Wada test, during the presurgical study of patients with drug-resistant epilepsy. METHODS: Consecutive patients with a diagnosis of drug-resistant structural epilepsy were selected who underwent the Wada test during the pre-surgical study in the period from June 2012 to May 2019. The patients were retrospectively evaluated. The AE were described according to the Mikuni classification, modified by Curot. The variables of sex, age, epileptic foci laterality, language laterality, lesional substrate, etiology and dose of administered Propofol were analyzed for any statistical significance. RESULTS: A total of 74 patients, 40 men (54%), were studied. Forty-seven patients (63.5%) had at least one AE. The mean dose of propofol was 9.23 mg. The most frequent AE were tearing, sweating and red eye, corresponding to group I (57%). One patient developed convulsive status epilepticus, an important AE not previously described during the Wada test. CONCLUSION: Performing the Wada test with propofol causes frequent mild adverse effects, which do not prevent its completion. We describe a case of convulsive status epilepticus as the only serious AE.

TITLE: Tolerabilidad y efectos adversos del propofol en la prueba de Wada.Introducción. La prueba de Wada consiste en la inhibición selectiva y reversible de un hemisferio cerebral mediante la inyección intracarotídea de amobarbital con el objetivo de evaluar la lateralidad del lenguaje y la memoria. Existen otros fármacos anestésicos, como el propofol, como alternativa para la prueba. Objetivo. El objetivo del estudio fue describir la tolerabilidad y los efectos adversos (EA) del uso de propofol para la prueba de Wada durante el estudio prequirúrgico de pacientes con epilepsia farmacorresistente. Pacientes y métodos. Se seleccionó a pacientes con diagnóstico de epilepsia estructural farmacorresistente consecutivos, quienes se sometieron a la prueba de Wada durante el estudio prequirúrgico en el período de junio de 2012 a mayo de 2019. Los pacientes fueron evaluados de manera retrospectiva. Los EA se describieron según la clasificación de Mikuni, modificada por Curot. Se analizaron las variables de sexo, edad, lateralidad del foco epiléptico, lateralidad del lenguaje, sustrato lesional, etiología y dosis de propofol administrada en busca de significación estadística. Resultados. Se estudió a un total de 74 pacientes, de los cuales 40 eran hombres (54%). Cuarenta y siete pacientes (63,5%) tuvieron al menos un EA. La dosis media de propofol fue de 9,23 mg. Los EA más frecuentes fueron lagrimeo, sudoración y ojo rojo, correspondientes al grupo I (57%). Un paciente desarrolló estado epiléptico convulsivo, EA importante no descrito anteriormente durante la prueba de Wada. Conclusión. La realización de la prueba de Wada con propofol ocasiona frecuentes efectos adversos leves, los cuales no impiden su finalización. Describimos un caso de estado epiléptico convulsivo como único EA grave.

[TK2 mutations and late onset myopathy: first description in a Mexican patient]. / Mutacion del gen TK2 y miopatia de inicio tardio: descripcion del primer caso mexicano.

TITLE: Mutacion del gen TK2 y miopatia de inicio tardio: descripcion del primer caso mexicano.

[Chronic inflammatory demyelinating polyradiculoneuropathy. 10 years' experience in a Mexican centre]. / Polirradiculoneuropatía crónica inflamatoria desmielinizante. Experiencia de 10 años en un centro mexicano.

INTRODUCTION: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a chronic, but potentially treatable, acquired autoimmune neuropathy. A review of the literature shows that few studies have been conducted on its epidemiology, presenting symptoms and long-term functional prognosis. AIM: To describe the clinical and neurophysiological forms of patients with CIDP at the outset and their follow-up at one year. PATIENTS AND METHODS: We conducted a descriptive, retrospective study of patients who were hospitalised in our unit between 1995 and 2005. The cases were defined in accordance with Inflammatory Neuropathy Cause and Treatment (INCAT) group criteria. Data gathered included demographic characteristics, forms of clinical presentation, neurophysiological findings, cerebrospinal fluid and functional prognosis at one year. A statistical descriptive analysis was performed. RESULTS: The sample consisted of 26 patients--12 males (46.15%) and 14 females (53.84%)--between 15 and 71 years of age (40.17 +/- 15.7 years). CIDP was associated with other autoimmune diseases in 20.8% of the patients. The predominant features at the outset of the disease were paresis and distal symmetrical paresthesias in the four limbs, high protein levels in cerebrospinal fluid and demyelination with axonal degeneration. Prednisone was administered in 43% of the cases. At one year, five patients remained asymptomatic (22.72%), there was a partial improvement in 13 (59.09%) and no improvement was seen in four cases (18.18%). CONCLUSIONS: The most frequent initial form of clinical presentation of CIDP in our population is quadriparesis and distal symmetrical paresthesias, high protein levels in cerebrospinal fluid and demyelination with axonal degeneration, which are related to a good functional prognosis at one year.

[Brachial diplegia as a variant of amyotrophic lateral sclerosis (Vulpian-Bernhart syndrome): the first case reported in Mexico and a review of the literature]. / Diplejía braquial como variante de esclerosis lateral amiotrófica(síndrome de Vulpian-Bernhart): descripción del primer casomexicano y revisión de la bibliografía.

INTRODUCTION: Brachial diplegia refers to an atypical clinical variant of amyotrophic lateral sclerosis (ALS), which is defined as a lower motor neuron disease in the upper limbs, with no significant functional complications in other regions. CASE REPORT: A 65-year-old female who presented a clinical picture of brachial diplegia that slowly progressed over a period of 72 months. Neurophysiology studies revealed a chronic denervation process. Throughout a follow-up lasting one year the clinical course remained stable. CONCLUSIONS: Brachial diplegia in females is a rare form of presentation of ALS and they probably have a higher survival rate than males.