Muerte súbita en epilepsia: casuística de una unidad médica de epilepsia española / Sudden unexpected death in epilepsy: Incidence at a Spanish epilepsy unit

INTRODUCCIÓN: La muerte súbita en epilepsia (SUDEP) es la causa más frecuente de muerte atribuible a la propia enfermedad. Casi toda la información sobre esta entidad procede de estudios realizados en el centro/norte de Europa y Estados Unidos. Presentamos la casuística de SUDEP de la Unidad Médica de Epilepsia de nuestro hospital. MÉTODOS: Estudiamos una cohorte histórica hospitalaria española, sin selección de pacientes por su gravedad, con 2.309 pacientes, de edad ≥ 14 años, entre enero de 2000 y junio de 2013. La identificación de los fallecidos se realizó a través de los Registros Civiles. Las causas de muerte se establecieron mediante certificados de defunción, autopsias forenses, informes de mortalidad hospitalarios, de médicos de familia y de testigos de los fallecimientos. Calculamos la incidencia y la mortalidad proporcional. RESULTADOS: Identificamos 7 casos de SUDEP definitivas (2 SUDEP-plus), uno probable y uno posible. Considerando solo los casos con autopsia, la incidencia es de 0,44/1.000 persona-año; la mortalidad proporcional es del 4,6%. Son 4 varones y 3 mujeres. La edad media es de 38,14 años. Casi todos los fallecimientos ocurrieron sin testigos, en la cama. La etiología de la epilepsia es sintomática remota o criptogénica. Menos 2 pacientes, todos tenían crisis generalizadas. Ninguno estaba en remisión. CONCLUSIONES: Pensamos que la incidencia y la mortalidad proporcional de SUDEP de nuestro estudio se asemejan a las encontradas en estudios poblacionales por el carácter escasamente seleccionado de nuestra cohorte. Los factores de riesgo para SUDEP encontrados en nuestros pacientes son concordantes con los reconocidos en la bibliografía

INTRODUCTION: Sudden unexpected death in epilepsy (SUDEP) is the leading cause of death in patients with epilepsy. Most studies concerning this issue have been conducted in central and northern European countries and the United States. We conducted an epidemiologic study of SUDEP at our hospital's epilepsy unit. METHODS: This retrospective cohort study included all epileptic patients aged ≥14 years, regardless of epilepsy severity, who were treated at the outpatient epilepsy unit of our hospital between 2000 and 2013. The study included 2,309 patients. Deceased patients were identified using civil records. The cause of death was obtained from death certificates, autopsy reports, hospital reports, general practitioner records, and witnesses of the event. We calculated the incidence and proportional mortality of SUDEP based on our data. RESULTS: We identified 7 cases of definite SUDEP (2 patients with SUDEP plus), one case of probable SUDEP, and one case of possible SUDEP. Considering only cases of definite SUDEP, incidence was estimated at 0.44 cases per 1,000 patient-years and proportional mortality at 4.6%. Mean age of patients with definite SUDEP was 38.14 years; 4 were men and 3 were women. Most deaths occurred while patients were in bed and were therefore unwitnessed. Epilepsy in these patients was either remote symptomatic or cryptogenic. All patients but 2 had generalised seizures. None of the patients was in remission. CONCLUSIONS: SUDEP incidence and proportional mortality rates in our study are similar to those reported by population studies. This may be due to the fact that we did not select patients by severity. Risk factors for SUDEP in our sample are therefore consistent with those reported in the literature

Sudden unexpected death in epilepsy: Incidence at a Spanish epilepsy unit. / Muerte súbita en epilepsia: casuística de una unidad médica de epilepsia española.

INTRODUCTION: Sudden unexpected death in epilepsy (SUDEP) is the leading cause of death in patients with epilepsy. Most studies concerning this issue have been conducted in central and northern European countries and the United States. We conducted an epidemiologic study of SUDEP at our hospital's epilepsy unit. METHODS: This retrospective cohort study included all epileptic patients aged ≥14 years, regardless of epilepsy severity, who were treated at the outpatient epilepsy unit of our hospital between 2000 and 2013. The study included 2,309 patients. Deceased patients were identified using civil records. The cause of death was obtained from death certificates, autopsy reports, hospital reports, general practitioner records, and witnesses of the event. We calculated the incidence and proportional mortality of SUDEP based on our data. RESULTS: We identified 7 cases of definite SUDEP (2 patients with SUDEP plus), one case of probable SUDEP, and one case of possible SUDEP. Considering only cases of definite SUDEP, incidence was estimated at 0.44 cases per 1,000 patient-years and proportional mortality at 4.6%. Mean age of patients with definite SUDEP was 38.14 years; 4 were men and 3 were women. Most deaths occurred while patients were in bed and were therefore unwitnessed. Epilepsy in these patients was either remote symptomatic or cryptogenic. All patients but 2 had generalised seizures. None of the patients was in remission. CONCLUSIONS: SUDEP incidence and proportional mortality rates in our study are similar to those reported by population studies. This may be due to the fact that we did not select patients by severity. Risk factors for SUDEP in our sample are therefore consistent with those reported in the literature.

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.

MYH7 gene mutations are associated with wide clinical and genetic heterogeneity. We report a novel founder mutation in MYH7 in Southern Spain (Andalucía). We studied two index patients and 24 family members from two apparently independent families by physical examination, serum creatine-kinase, muscle MRI, sequencing studies and genetic linkage analysis. Sixteen individuals were heterozygous for a (p.R1560P) variant in the MYH7 gene. Haplotype was consistent with a common ancestor for the two families. The patients displayed the classic Laing distal myopathy phenotype, with hanging first toe as the initial presentation, even in mildly affected patients who declared themselves asymptomatic, although neck flexor weakness was revealed as an early sign in some cases. MRI showed that the sartorius was the first muscle involved, even in two out of three asymptomatic carriers. Our findings support the novel variant p.R1560P in MYH7 as a founder mutation in Andalucía. The early involvement of the sartorius muscle in MRI may be useful as an indicator of affection status.

[Epidemiology of epilepsy in Spain and Latin America]. / Epidemiologia de la epilepsia en España y Latinoamerica.

INTRODUCTION: The connection between Spain and Latin America on the cultural, ethnic and commercial levels has been very important over the last five centuries, and this accounts for the existence of a common identity that can condition the epidemiology of chronic diseases with genetic and environmental determinants, such as epilepsy. In the last 15 years significant changes have come about in the economic development and the healthcare conditions in these countries as well as the migratory flows among them that may have brought about changes in the previous epidemiological situation. We present an exhaustive review of the epidemiological studies describing the status of epilepsy in Spain and Latin America. DEVELOPMENT: A bibliographic search was conducted of descriptive epidemiology studies about epilepsy in Spain and in each of the countries of Latin America. The methodology and quality of each study are reviewed and data on prevalence and incidence are extracted for each country. A total of 796 studies are evaluated, of which 55 (48 on prevalence and seven on incidence) meet eligibility criteria. CONCLUSIONS: There is no evidence of a variation in the epidemiological situation of epilepsy in Latin America. Some prevalence and incidence rates are still higher than in western countries. This difference is especially apparent in countries where cysticercosis is endemic and is inversely proportional to the wealth of the country, measured by the per capita gross domestic product. There is no evidence of any change in the epidemiology of epilepsy in Spain despite the migratory flows of countries with a high prevalence of epilepsy in recent years.

TITLE: Epidemiologia de la epilepsia en España y Latinoamerica.Introduccion. La conexion entre España y Latinoamerica en los ultimos cinco siglos ha sido muy importante desde el punto de vista cultural, etnico y comercial, lo que justifica la existencia de una identidad comun que puede condicionar la epidemiologia de enfermedades cronicas con determinantes geneticos y medioambientales, como la epilepsia. En los ultimos quince años se han producido cambios significativos en el desarrollo economico y de condiciones sanitarias en estos paises, asi como flujos migratorios entre ellos que pueden haber variado la situacion epidemiologica previa. Planteamos una revision exhaustiva de los estudios de epidemiologia descriptiva de la epilepsia en España y Latinoamerica. Desarrollo. Busqueda bibliografica de los estudios de epidemiologia descriptiva sobre epilepsia en España y cada uno de los paises de Latinoamerica. Se revisan su metodologia y su calidad, y se extraen los datos de prevalencia e incidencia por pais. Se evaluan 796 estudios, de los cuales 55 (48 de prevalencia y siete de incidencia) cumplen los requisitos de inclusion. Conclusiones. No existe evidencia de una variacion de la situacion epidemiologica de la epilepsia en Latinoamerica. Siguen existiendo tasas de prevalencia e incidencia mas altas que en los paises occidentales. Esta diferencia es especialmente evidente en paises endemicos para cisticercosis y esta inversamente relacionada con la riqueza del pais medida por el producto interior bruto per capita. No existe evidencia de cambio en la epidemiologia de la epilepsia en España a pesar de los flujos migratorios de paises con alta prevalencia de epilepsia en los ultimos anos.

Localización del punto de fuga de líquido cefalorraquídeo en un caso de hipotensión de líquido cefalorraquídeo / Locating the site of cerebrospinal fluid leak in a patient with low cerebrospinal fluid pressure

No disponible

Perfil de consumo de antiepilépticos en los pacientes epilépticos del Área Oeste de Málaga / Consumption patterns of antiepileptic drugs among epileptic patients in the Western Málaga district

No disponible

Síndrome de hiperinsulinismo-hiperamoniemia y epilepsia mioclónica grave de la infancia / Hyperinsulinism and hyperammonaemia syndrome and severe myoclonic epilepsy of infancy

No disponible

Enfermedad de Creutzfeldt-Jacob: hiperseñal cortical y en ganglios basales en la resonancia magnética / Creutzfeldt-Jakob disease: hiperintense signal in cortex and basal ganglia in magnetic resonance imaging

No disponible

Síndrome de Guillain Barré asociado a anestesia epidural / No disponible

No disponible

Leucoencefalopatía posterior reversible: la lista de culpables aumenta. Respuesta / Reversible posterior leukoencephalopathy: the guilty list is increasing. Response

No disponible

No disponible

Malformación arteriovenosa asociada a síndrome de Klippel-Trenaunay-Weber / No disponible

No disponible

Esclerosis lateral amiotrófica y anticuerpos anti-CV2. ¿Asociación paraneoplásica? / Amyotrophic lateral sclerosis and anti-CV2 antibodies. Paraneoplastic association?

Introducción. La esclerosis lateral amiotrófica (ELA) es una forma de enfermedad de motoneurona que afecta primariamente a las motoneuronas superior e inferior. Es de etiología desconocida, curso progresivo y a menudo fatal. Muy ocasionalmente se ha descrito su aparición como síndrome paraneoplásico (SPN). Determinados patrones clínicos de enfermedad de motoneurona sugieren esta asociación. Los anti-CV2 son un tipo de anticuerpo onconeuronal, asociado invariablemente a tumor, y descritos en distintos SPN como encefalomielitis paraneoplásica, degeneración cerebelosa y neuropatía periférica.Caso clínico. Varón de 29 años con criterios de ELA probable. Por su debut atípico (edad del paciente) se solicitó anticuerpos onconeuronales, detectándose anti-CV2+. Tras 3 años de seguimiento y búsqueda tumoral exhaustiva, con progresión de la enfermedad, no hay evidencia en la actualidad de cáncer asociado.Discusión. El estudio de la enfermedad de motoneurona/ ELA como síndrome paraneoplásico, por su rareza, ha sido motivo de revisiones al objeto de verificar dicha relación. Ante una ELA debemos descartar asociación a tumor cuando se trate de una presentación precoz (< 30 años) o tardía (>70 años), cuando asocie otros síntomas/signos neurológicos (síntomas sensitivos, ataxia, etc.), ante la presencia de anticuerpos anti-Hu u otros y/o ante la presencia de paraproteinemia y/o pleocitosis-hiperproteinorraquia en LCR. Presentamos un caso de ELA probable con anti-CV2+, sin evidencia de cáncer subyacente. Tras una búsqueda bibliográfica extensa no hemos encontrado descrita esta asociación. Tampoco tenemos conocimiento de la existencia de anticuerpos anti-CV2 fuera del contexto tumoral, por lo que pensamos que nuestro paciente, probablemente, presente una neoplasia oculta

Introduction. Amyotrophic lateral sclerosis (ALS) is a form of motor neuron disease that primarily affects upper and lower motor neurons. Its etiology is unknown, it has a progressive course and is often fatal. Very rarely, its appearance as paraneoplastic syndrome (PNS) has been described. Certain clinical patterns of motor neuron disease suggest this association. The anti-CV2 are a type of onconeuronal antibody, invariably associated to tumor and described in different PNSs as paraneoplastic encephalomyelitis, cerebellar degeneration and peripheral neuropathy.Clinical case. 29 years old male with criteria of probably ALS. Due to his atypical onset (patient's age), onconeuronal antibodies were requested, detecting anti- CV2+. After three years of follow-up and exhaustive search for tumors, with progression of the disease, there is currently no evidence of associated cancer.Discussion. The study of the motor neuron/ALS disease as paraneoplastic syndrome, due to its rareness, has led to reviews in order to verify this relationship. When ALS exists, we should rule out association to tumor when the presentation is early (< 30 years) or late (> 70 years), when it is associated to other neurological symptoms/signs (sensory symptoms, ataxia, etc.), when anti-Hu antibodies or others are present and/or when there is paraproteinemia and/or pleocytosis-high protein levels in cerebral spinal fluid. We present a case of probable ALS with anti-CV2+, with no evidence of underlying cancer. After an extensive bibliographic search, we have found no description of this association. We also have no knowledge of the existence of anti-CV2 antibodies outside of the tumor context, so that we believe that our patient probably has an occult neoplasm