[Efficacy of zonisamide in Lafora's disease case and brief review of its use in progressive myoclonic epilepsy]. / Eficacia de la zonisamida en un caso de enfermedad de Lafora y breve revisión en la epilepsia mioclónica progresiva.

INTRODUCTION: Mioclonic progressive epilepsy (MPE) includes a clinical and genetical heterogeneous group of neuro-degenerative disorders that associate spontaneous and action-induced myoclonus as well as progressive cognitive impairment. Lafora`s disease is a subtype of MPE with autosomical recessive inheritance due to a mutation in EPM2A or EPM2B genes. Seizures, especially myoclonus, are often refractary to antiepileptic drugs (AD). CASE REPORT: In this article we report a patient with Lafora´s disease diagnosis, previously resistant to several AD tested with good and sustained response to zonisamide. Indeed, we describe a brief review about the efficacy of zonisamida in MPE. CONCLUSION: Zonisamide may be considered as a good therapeutic alternative in MPE.

TITLE: Eficacia de la zonisamida en un caso de enfermedad de Lafora y breve revisión en la epilepsia mioclónica progresiva.Introducción. La epilepsia mioclónica progresiva constituye un grupo complejo de enfermedades neurodegenerativas clínica y genéticamente heterogéneas que asocian mioclonías espontáneas o inducidas por la acción y el deterioro neurológico progresivo. Dentro de estas entidades se encuentra la enfermedad de Lafora, una patología autosómica recesiva causada por mutación en el gen responsable de la síntesis de una proteína llamada laforina (EPM2A) o el gen responsable de la síntesis de la proteína malina (EPM2B o NHLRC1). Son entidades cuyas crisis, en especial las mioclonías, son frecuentemente resistentes a los fármacos anticrisis epilépticas. Caso clínico. Presentamos el caso de una paciente con diagnóstico de enfermedad de Lafora que, tras varios regímenes terapéuticos ineficaces, presentó buena respuesta a la introducción de la zonisamida, con una respuesta favorable mantenida en el tiempo. Asimismo, hacemos una breve revisión de la eficacia de la zonisamida en cuadros de epilepsia mioclónica progresiva. Conclusión. La zonisamida puede ser una buena alternativa en el tratamiento de cuadros con epilepsia mioclónica progresiva.

Eficacia de la zonisamida en un caso de enfermedad de Lafora y breve revisión en la epilepsia mioclónica progresiva / Efficacy of zonisamide in a case of Lafora disease and brief review in progressive myoclonic epilepsy

Introducción: La epilepsia mioclónica progresiva constituye un grupo complejo de enfermedades neurodegenerativas clínica y genéticamente heterogéneas que asocian mioclonías espontáneas o inducidas por la acción y el deterioro neurológico progresivo. Dentro de estas entidades se encuentra la enfermedad de Lafora, una patología autosómica recesiva causada por mutación en el gen responsable de la síntesis de una proteína llamada laforina (EPM2A) o el gen responsable de la síntesis de la proteína malina (EPM2B o NHLRC1). Son entidades cuyas crisis, en especial las mioclonías, son frecuentemente resistentes a los fármacos anticrisis epilépticas. Caso clínico: Presentamos el caso de una paciente con diagnóstico de enfermedad de Lafora que, tras varios regímenes terapéuticos ineficaces, presentó buena respuesta a la introducción de la zonisamida, con una respuesta favorable mantenida en el tiempo. Asimismo, hacemos una breve revisión de la eficacia de la zonisamida en cuadros de epilepsia mioclónica progresiva. Conclusión: La zonisamida puede ser una buena alternativa en el tratamiento de cuadros con epilepsia mioclónica progresiva.(AU)

INTRODUCTION: Mioclonic progressive epilepsy (MPE) includes a clinical and genetical heterogeneous group of neuro­degenerative disorders that associate spontaneous and action-induced myoclonus as well as progressive cognitive impairment. Lafora`s disease is a subtype of MPE with autosomical recessive inheritance due to a mutation in EPM2A or EPM2B genes. Seizures, especially myoclonus, are often refractary to antiepileptic drugs (AD). CASE REPORT: In this article we report a patient with Lafora´s disease diagnosis, previously resistant to several AD tested with good and sustained response to zonisamide. Indeed, we describe a brief review about the efficacy of zonisamida in MPE. CONCLUSION. Zonisamide may be considered as a good therapeutic alternative in MPE.(AU)

Perampanel effectiveness and safety as early add-on treatment for focal-onset seizures: PEREAGAL study.

BACKGROUND: Perampanel (PER) is an effective adjunctive therapy for controlling focal-onset seizures (FOS), but few studies have examined its effects as an early add-on for the treatment of FOS in daily clinical practice. METHODS: Our retrospective, multicenter, observational study evaluated the effectiveness and safety of PER as an early add-on in 77 patients with FOS, with and without focal to bilateral tonic-clonic seizures (FBTCS) after 3, 6 and 12 months in a real-world setting. RESULTS: After 12 months of treatment (median dose 6 [4,8] mg/day), the retention rate was 79.2 % and 60 % of patients (39/65) experienced a ≥50 % reduction in seizure frequency relative to baseline. The seizure-free rate was 38.5 % for all seizures (25/65) and 60 % for FBTCS (12/20). The responder rate at 12 months was significantly higher when PER was given with one concomitant AED (72.2 %) compared to when PER was given with two concomitant AEDs (44.8 %). Drug-related adverse events (AEs) were reported in 40.3 % of patients, most of them being mild (64.2 %). Twelve patients (15.6 %) discontinued treatment because of AEs. CONCLUSIONS: PER is an effective and safe early add-on for patients with refractory FOS, especially for those with FBTCS.

[Endovascular treatment of carotid disease in patients at high surgical risk]. / Tratamiento endovascular de la enfermedad carotídea en pacientes de alto riesgo.

AIMS: To analyse the perioperative morbi-mortality rates during the first 30 days following endovascular therapy in patients with carotid stenosis and important risk factors for surgery. We also sought to determine the survival rate, the percentage of patients that were stroke-free and the percentage of cases of restenosis during the follow-up period. PATIENTS AND METHODS: A retrospective study was conducted on a series of 100 patients with symptomatic > 50% and asymptomatic > 70% carotid stenosis, who underwent endovascular therapy between January 2000 and December 2006 because of the important risk factors they presented. Monitoring was clinical and was performed by means of carotid Doppler scanning. RESULTS: The mean age of the sample: 72.2 years (46-86). Perioperative morbi-mortality of the series: 6% (confidence interval, CI 95% = 0.8-11.2) and in the symptomatic stenosis group: 5.7% (CI 95% = 1.8-12.9). The mean follow-up time was 23.4 months (0-94). Total mortality of the series during the follow-up was 7% (CI 95% = 1.4-12.5). The probability of survival at 3 and 5 years is 93 and 89%, respectively. At one year, 98.9% of the patients remained stroke-free. Restenosis of the stent occurred in 5% (CI 95% = 1.6-11.2). The probability of restenosis not occurring was 96.75% at 6 months and 94% at 3 years. CONCLUSIONS: Stent angioplasty is an effective form of treatment in carotid stenosis in patients with important risk factors for surgery and it is therefore important to fulfil patient selection protocols and avoid perioperative complications.

Tratamiento endovascular de la enfermedad carotídea en pacientes de alto riesgo / Endovascular treatment of carotid disease in patients at high surgical risk

Analizar la morbimortalidad perioperatoria durante los primeros 30 días tras la terapia endovascularen pacientes con estenosis carotídea e importantes factores de riesgo para la cirugía, y determinar la supervivencia, el porcentaje de pacientes libres de ictus, así como el porcentaje de reestenosis durante el tiempo de seguimiento. Pacientes y métodos.Se ha realizado un estudio retrospectivo de una serie de 100 pacientes con estenosis carotídeas sintomáticas > 50% y asintomáticas > 70% a los que se realizó terapia endovascular entre enero de 2000 y diciembre de 2006 por presentar importantes factores de riesgo. El seguimiento ha sido clínico mediante Doppler carotídeo. Resultados. Media de edad de la muestra: 72,2 años (rango: 46-86 años). Morbimortalidad perioperatoria de la serie: 6% (IC 95% = 0,8-11,2) y en el grupo de estenosissintomática: 5,7% (IC 95% = 1,8-12,9). El tiempo medio de seguimiento fue de 23,4 meses (rango: 0-94 meses). Lamortalidad total de la serie durante el seguimiento fue del 7% (IC 95% = 1,4-12,5). La probabilidad de supervivencia a los 3 y 5 años es del 93% y 89%, respectivamente. El 98,9% ha permanecido libre de ictus al año. Se produjo reestenosis del stenten el 5% (IC 95% = 1,6-11,2). La probabilidad de que no se produzca reestenosis es del 96,75% a los 6 meses y del 94% a los 3 años. Conclusiones. La angioplastia con stent es un tratamiento efectivo en estenosis carotídea en pacientes con importantes factores de riesgo para la cirugía, de ahí la importancia de realizar protocolos de selección de pacientes y evitar las complicaciones periprocedimiento

To analyse the perioperative morbi-mortality rates during the first 30 days following endovascular therapyin patients with carotid stenosis and important risk factors for surgery. We also sought to determine the survival rate, the percentage of patients that were stroke-free and the percentage of cases of restenosis during the follow-up period. Patients andmethods. A retrospective study was conducted on a series of 100 patients with symptomatic > 50% and asymptomatic > 70% carotid stenosis, who underwent endovascular therapy between January 2000 and December 2006 because of the important risk factors they presented. Monitoring was clinical and was performed by means of carotid Doppler scanning. Results. The mean age of the sample: 72.2 years (46-86). Perioperative morbi-mortality of the series: 6% (confidence interval, CI 95% =0.8-11.2) and in the symptomatic stenosis group: 5.7% (CI 95% = 1.8-12.9). The mean follow-up time was 23.4 months (0-94). Total mortality of the series during the follow-up was 7% (CI 95% = 1.4-12.5). The probability of survival at 3 and 5 years is 93 and 89%, respectively. At one year, 98.9% of the patients remained stroke-free. Restenosis of the stent occurred in 5% (CI95% = 1.6-11.2). The probability of restenosis not occurring was 96.75% at 6 months and 94% at 3 years. Conclusions. Stent angioplasty is an effective form of treatment in carotid stenosis in patients with important risk factors for surgery and it istherefore important to fulfil patient selection protocols and avoid perioperative complications (AU)

Insuficiencia respiratoria aguda como manifestación inicial de esclerosis lateral amiotrófica / Acute respiratory failure as initial manifestation of amyotrophic lateral sclerosis

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Colitis linfocitaria inducida por carbamacepina / Lymphocytic colitis induced for carbamazepine

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Secreción inadecuada de hormona antidiurética secundaria a paroxetina / Inappropriate secretion of antidiuretic hormone secondary to paroxetine

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Colitis linfocitaria inducida por carbamacepina / Lymphocityc colitis induced for carbamazepine

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