Nonpharmacologic treatments of Dravet syndrome: focus on the ketogenic diet.

We present an update of our experience with the ketogenic diet (KD) in patients with Dravet syndrome (DS) to evaluate the efficacy and tolerability and our short experience with vagus nerve stimulation (VNS) in the treatment of this syndrome. Between March 1, 1990 and May 31, 2007, 59 patients who met diagnostic criteria for DS were studied in our department. Twenty-four of them were placed on the KD and were followed up for a minimum of 2 years. Three patients were treated with VNS. Sixteen (66.6%) of 24 patients remained on the diet. Two patients (12.5%) became seizure free, 10 children (62.5%) had a 75-99% decrease in seizures, and the remaining 4 children (25%) had a 50-74% decrease in seizures. Six patients have been off the diet for >2 years; one of them is seizure free, two have sporadic seizures, and three, who abandoned the diet after 3 years of adhering to it, relapsed. As to the efficacy of VNS, two patients had a 50-74% decrease in seizures and in the other seizure frequency remained unchanged. The device was well tolerated in all patients without significant complications. Considering the severity and refractarity of seizures in patients with DS, the fact that 12 of 16 children who remained on the diet had a significant reduction in number of seizures shows that the KD is at present an interesting therapeutic option. VNS may be a good alternative treatment for DS.

Vagus nerve stimulation: effectiveness and tolerability in 64 paediatric patients with refractory epilepsies.

AIM: We discuss the effectiveness, tolerability, and safety of vagus nerve stimulation (VNS) as adjunctive therapy in 64 paediatric patients with refractory epilepsies. MATERIALS AND METHODS: Sixty-four patients (34 male and 30 female) implanted with VNS for refractory epilepsy were analysed. Electroclinical features were compatible with Lennox-Gastaut syndrome in 46 patients, focal epilepsies in 10 patients, Dravet syndrome in three patients, epilepsy with myoclonic-astatic seizures in three patients, and West syndrome in two. The NeuroCybernetic Prosthesis (NCP) system (Cyberonics, Webster, TX, USA) was employed and the following stimulation parameters were used: output current of 1 to 2.5mA, signal frequency of 30Hz, signal pulse width of 500µs, and signal "on" and "off" times of 30  seconds and 5  minutes, respectively. RESULTS: Of 46 patients with LGS, 30 cases showed a significant improvement in seizure control, with a reduction in seizure frequency of at least 50%. Ten patients with focal epilepsy, three patients with myoclonic-astatic seizures, two patients with Dravet, and two patients with West showed a significant improvement in seizure control, with a reduction in seizure frequency of at least 50%. A good clinical response was evident early and efficacy progressively improved with the duration of treatment up to 36 months. In a significant number of patients, reduced seizure severity and shorter recovery time and hospital stay were also observed. VNS was well tolerated in all patients. CONCLUSION: VNS is an effective and well-tolerated treatment for paediatric patients with refractory epilepsies, improving quality of life and neuropsychological performance.

Electroencephalographic evaluation of gold wire implants inserted in acupuncture points in dogs with epileptic seizures.

The purpose of this study was to evaluate both, clinically and with electroencephalographic (EEG) recordings, the effect of gold wire implants in acupuncture points in dogs with uncontrolled idiopathic epileptic seizures. Fifteen dogs with such diagnosis were enrolled in the study. A first EEG recording was performed in all dogs under anaesthesia with xylazine (1mg/kg) and propofol (6 mg/kg) before the treatment protocol, and a second EEG was performed 15 weeks later. Relative frequency power, intrahemispheric coherence available through EEG, number of seizures and seizure severity were compared before and after treatment using a Wilcoxon signed-rank test. There were no significant statistical differences before and after treatment in relative power or in intrahemispheric coherence in the EEG recording. However, there was a significant mean difference in seizure frequency and seizure severity between control and treatment periods. After treatment, nine of the 15 dogs (60%) had at least a 50% reduction in seizures frequency during the 15 weeks established as follow-up of this treatment.

Dravet syndrome: a study of 53 patients.

OBJECTIVE: We analyzed the electroclinical features, treatment and evolution of patients with Dravet syndrome (DS). MATERIAL AND METHODS: We evaluated the clinical records of 53 patients that met the diagnostic criteria of DS according to the ILAE classification of 1989 seen at our center between February 1990 and December 2004. RESULTS: Thirty-four male and 19 female patients met the diagnostic criteria of DS. Mean time of follow-up was 10 years. The mean age at onset was 6 months and in all patients the seizures were associated with febrile illness. Myoclonias were found in 39 children. These seizures appeared between the ages of 1 and 5.5 years, with an average of 1 year and 5 months. The seizures were difficult to control with AEDs. All patients presented some degree of mental delay. At the age of 6 years, one of the children in our series presented kinesigenic paroxysmal dyskinesias. Twenty patients were placed on the ketogenic diet (KD). Two did not tolerate the KD and the diet was ineffective in five cases. The other 13 showed different degrees of control of seizures. CONCLUSION: The present study confirms the severity and intractability of the seizures and the difficulties to make an early diagnosis in DS. The onset of febrile seizures or seizures related to infectious disease or vaccination, focal or generalized, prolonged in time and during the first year of life, is especially suggestive of DS. The final diagnosis is usually made after 2 or 3 years when the electroclinical picture is complete, but earlier diagnosis is desirable. Myoclonias are the most representative type of non-febrile seizures in this syndrome but are not always present. Cognitive development is poor in all patients. Treatment with the KD should be considered early. A ion-channel disorder could explain the association between DS and paroxysmal diskinesias, as seen in one of our patients.

Epilepsia mioclónica juvenil / Juvenile myoclonic epilepsy

La epilepsia mioclónica juvenil (EMJ) se presenta con una frecuencia alrededor de 4 a 10 por ciento de los pacientes con epilepsia; se caracteriza por su inicio en la adolescencia y por la presencia de crisis generalizadas de varios tipos: tónico-clónicas, ausencias y mioclónicas, en pacientes con un desarrollo neurológico normal. Esta forma de epilepsia fue descrita por janz hace 30 años y a pesar del tiempo transcurrido y de su frecuencia, es practicamante desconocida por el médico general, así como también por un alto porcentaje de especialistas. Estudiamos la presencia de EMJ en 20 pacientes, puntualizando sus características clínicas y su respuesta al tratamiento y hacemos una comparación con los datos publicados en la literatura. El objetivo del trabajo es llamar la atención hacia esta enfermedad y dar información para el diagnóstico y el tratamiento adecuados de la misma.

[Juvenile myoclonic epilepsy]. / Epilepsia mioclónica juvenil.

Juvenile Myoclonic Epilepsy is an special type of epilepsy present in approximately 4 to 10% of patients with epilepsy. This disorder is characterized by an onset in the adolescence and by the presence of various types of generalized seizures: tonic-clonic, typical absences and myoclonic in patients with otherwise normal neuropsychological development. This form of epilepsy was described 30 years ago by Janz, and even today the diagnosis is seldom performed by the general physician as not well as by many neurologists and neurosurgeons. We studied Juvenile Myoclonic Epilepsy in 20 patients, underscoring its clinical and electroencephalographic profiles and its response to treatment, and established a comparison of these patients with other, existent in the medical literature. The goal of the present work is to call attention to this neurological disorder and to provide useful information for its adequate diagnosis and treatment.

Estudio clínico de la epilepsia mioclónica juvenil

El objetivo de este trabajo es evaluar la frecuencia de presentación, características clínicas y respuesta al tratamiento en escolares y adolescentes con diagnóstico de epilepsia mioclónica juvenil. Es un estudio retrospectivo de una serie de casos de niños con epilepsia mioclónica juvenil del Servicio de Neurología Infantil del Hospital Militar Central (HMC) en el período comprendido entre el 1o. de noviembre de 1989 y el 31 de octubre de 1991. Se recopilaron 17 pacientes durante el período de tiempo evaluado, con un predominio de mujeres 12/17 casos. La distribución por edad osciló entre los ocho y los 14 años siendo más frecuente entre los ocho y los diez años. Los antecedentes familiares de epilepsia primaria fueron positivos en 30 por ciento, mioclonías asociadas a crisis tónico-clónicas generalizadas en 12 por ciento. El tratamiento instaurado con ácido valproico se realizó en 16/17 pacientes obteniéndose control de las crisis en 81 por ciento; 3/17 pacientes requirieron asociación de clobazam con ácido valproico para el control; un paciente se manejó con clobazam únicamente. La epilepsia mioclónica juvenil es el síndrome epiléptico primario más frecuente encontrado en el grupo de escolares y adolescentes de la Clínica de Epilepsia del Servicio de Neurología Infantil de HMC. La sospecha clínica de esta entidad es básica para un diagnóstico adecuado, especialmente cuando el primero o el único tipo de crisis son mioclonías matinales.