[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.

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.

[Topiramate therapy in patients with refractory epilepsy]. / Tratamiento con topiramato en pacientes con epilepsia refractaria.

AIMS: The purpose of this study was to examine the result of administrating topiramate (TPM) to patients with epilepsy that is refractory to treatment with two or more antiepileptic agents. PATIENTS AND METHODS: A total of 50 patients were evaluated, 90% of which had partial seizures (simple partial, complex partial and partial with secondary generalisation) and the remaining 10% suffered from generalised seizures. The most frequent aetiology was that which corresponded to the symptoms (52% of the cases). 98% of the patients were treated with two or three drugs. TPM was added with a dosage interval between 75 and 550 mg and follow-up visits were carried out throughout a period of nine months. RESULTS: 12 patients remained seizure-free for at least the first three months of the study; in 20 patients the number of seizures decreased by 50% or more; in 14 patients no changes were observed, and in the other four there was an increase in the number of seizures. The best results were obtained in cases of seizures with an idiopathic aetiology, while complex partial seizures offered the worst results. We also analysed the factors that might exert an influence on the different degrees of response. CONCLUSIONS: TPM was effective in all kinds of seizures. 24% of the patients became seizure free, and the total percentage of respondents rose to 64%. No patients dropped out of the study because of intolerance to the drugs.

[Opsoclonus-myoclonus syndrome in patient with ovarian cancer]. / Síndrome opsosclonus -mioclonus en paciente con cáncer de ovario.

The opsoclonus-myoclonus syndrome is a rare entity as a paraneoplastic disorder usually associated to neuroblastoma in children and breast cancer or oat-cell lung carcinoma in adults. The association of opsoclonus-myoclonus syndrome and ovarian carcinoma is very unusual, to our knowledge there is only two cases reported in the literature. In both of them the opsoclonus-myoclonus syndrome preceded the neoplasy, improving with its treatment. In our patient opsoclonus began after ovarian cancer diagnosis, after chemotherapy and radiotherapy, improving with corticoid and clonazepan therapy.

[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.

Posterior alien hand syndrome after a right thalamic infarct.

The alien hand syndrome, as originally defined, should be reserved for cases in which the hand feels foreign "together with" observable involuntary motor activity. These involuntary movements are unusual during or after acute stroke. Three varieties of alien hand syndrome have been reported, involving lesions of the corpus callosum alone, the corpus callosum plus dominant medial frontal cortex, and posterior cortical and subcortical areas. A patient with posterior alien hand syndrome of vascular aetiology is reported. Imaging studies disclosed an isolated infarction of the right thalamus sparing other cerebral regions.

Guillain-Barré syndrome as an extraintestinal manifestation of Crohn's disease.

A variety of extraintestinal manifestations, probably immune-mediated, may appear during relapses of Crohn's disease. We report the clinical observation of a 34-year-old woman who developed a Guillain-Barré syndrome, aphthous stomatitis and oligoarthritis during a relapse of Crohn's ileocolitis. This case suggests that the Guillain-Barré syndrome may be another extraintestinal manifestation of Crohn's disease.