Rufinamide in children and adults in routine clinical practice.

OBJECTIVE: To explore the long-term effectiveness of rufinamide in managing Lennox-Gastaut Syndrome (LGS), other epileptic encephalopathies, and intractable focal epilepsies in adults and children in routine clinical practice. METHODS: A multicentre, retrospective chart review of patients prescribed adjunctive rufinamide at seven Spanish epilepsy centres, with assessments at six and 12 months. RESULTS: We evaluated data from 58 patients (40 male, age range 7-57 years), 25 of whom were diagnosed with LGS, 12 with other epileptic encephalopathies and 21 of whom were diagnosed with focal epilepsies, mainly frontal lobe. The mean daily rufinamide dose was 32.0 mg/kg (range 12.5-66.7 mg/kg) in children and 24.7 mg/kg (range 5.0-47.0 mg/kg) in adults, and the most commonly used concomitant antiepileptic drugs were levetiracetam and valproate. Rufinamide was discontinued in 25 patients (43.1%) during the 1-year follow-up, and the most common reason was lack of effectiveness (n = 12, 20.7% of total). The frequency of generalized tonic-clonic seizures was significantly reduced from baseline at 6 and 12 months (P = 0.001), both in patients with generalized epilepsies and in patients with focal epilepsies. Significant seizure frequency reduction from baseline was observed at 12 months (P = 0.01) for tonic/atonic seizures and at 6 months (P = 0.001) for focal seizures. Side effects were reported in 21 patients (36.2%): nausea, vomiting and weight loss were most frequent. CONCLUSIONS: Rufinamide was well tolerated and was effective in reducing frequency of generalized tonic-clonic, tonic/atonic and focal seizures in both children and adults with severe refractory epilepsies, primarily LGS.

[Hyperammonemic encephalopathy associated with valproate acid]. / Encefalopatía hiperamoniémica asociada al uso de valproato sódico.

We report 4 clinical cases of hyperammonemic encephalopathy (HE) associated with valproate acid (VPA) and review the literature on its pathophysiology. In all four cases, hepatic function was normal and valproic levels were within the therapeutic range. Elevated ammonium levels were found as the only biochemical abnormality. Patients showed decreased level of consciousness, confusion, ataxia and seizures. In 1 case the EEG showed diffused triphasic waves with frontal predominance. After suppression of treatment with VPA there was remission of clinical manifestations, and ammonium levels returned to normal. In order to obtain the correct diagnosis of HE, in all patients treated with either VPA mono or polytherapy, ammonium levels should be considered.

Encefalopatía hiperamoniémica asociada al uso de valproato sódico / Hyperammonemic encephalopathy associated with valproate acid

Se describen 4 casos clínicos de encefalopatía hiperamoniémica (EH) asociada al uso de valproato sódico y se revisa la literatura respecto a los mecanismos fisiopatológicos implicados. En todos los casos la función hepática fue normal y los niveles de valproato se encontraron dentro del rango terapéutico, hallándose solamente niveles elevados de amonio. Los pacientes presentaron clínica de disminución del nivel de conciencia, cuadro confusional, ataxia y, en 1 caso, aumento del número de crisis. Uno de los casos presentó un registro electroencefalográfico con ondas trifásicas difusas de predominio frontal bilateral. Tras la supresión del tratamiento con valproato sódico se normalizó la clínica y los niveles de amonio volvieron a la normalidad. Para el correcto diagnóstico de la EH, ante todo paciente que esté en tratamiento con valproato sódico, en mono o politerapia y que presente clínica compatible con encefalopatía, se aconseja determinar los niveles de amonio. (AU)

[Intrathecal synthesis of IgG evaluated using different formulas: importance of multivariate analysis in the diagnosis of multiple sclerosis]. / Síntesis intratecal de IgG valorada mediante diferentes fórmulas: interés del análisis multivariante para el diagnóstico de esclerosis múltiple.

INTRODUCTION: Synthesis of IgG is useful data for the diagnosis of multiple sclerosis, and different formulas, both direct and indirect, are used to quantify this. We analyze these formulas with the objective of finding whether certain combinations of them would give better results than the individual formulas on their own. PATIENTS AND METHODS: We studied the cerebrospinal fluid of 45 patients with neurological disorders and determined the results of the two formulas which are most effective, according to some studies (Reiber's formula and IgG index) together with a direct formula (IgG ratio) and another indirect formula (the 'classical' formula of Tourtellotte). RESULTS: The IgG index was, in general, the formula which best differentiated between patients with multiple sclerosis and persons with other neurological disorders. CONCLUSIONS: We found a tendency which supported the original hypothesis that it is possible to use combinations of formulas to obtain better results than individual formulas. This fact may serve as a basis for further studies in which different combinations are tested, including analytical and clinical data, and this may be of use in the diagnosis of multiple sclerosis.

Síntesis intratecal de IgG valorada mediante diferentes fórmulas:interés del análisis multivariantepara el diagnóstico de esclerosis múltiple / Intrathecal synthesis of IgG evaluated using different formulas: the use of multivariate analysis for the diagnosis of multiple sclerosis

Introducción. La síntesis de IgG es un dato útil en el diagnóstico de esclerosis múltiple, y para cuantificarla se emplean diferentes fórmulas, directas o indirectas. Analizamos dichas fórmulas con el objetivo de ver si existen combinaciones de las mismas con mejor rendimiento que las individuales. Pacientes y métodos. Hemos estudiado el líquido cefalorraquídeo en 45 pacientes con enfermedades neurológicas y hemos determinado los resultados de las dos fórmulas que, según algunos trabajos, son más eficaces (fórmula de Reiber e índice de IgG), junto con una fórmula directa (ratio de IgG) y otra fórmula indirecta (la `clásica' de Tourtellotte). Resultados. El índice de IgG fue la fórmula que presentó la capacidad más alta para discriminar, en general, entre pacientes con esclerosis múltiple e individuos con otra enfermedad neurológica. Conclusiones. Encontramos una tendencia que apoya la hipótesis inicial de que es posible utilizar combinaciones de fórmulas que ofrezcan mejores rendimientos que las fórmulas individuales. Este hecho puede ser el punto de partida para otros estudios, en los que se prueben combinaciones diferentes, incluso de datos analíticos y clínicos, los cuales puedan mejorar nuestra capacidad para diagnosticar la esclerosis múltiple (AU)

[Indications of the surgical treatment of epilepsy]. / Indicaciones del tratamiento quirúrgico de la epilepsia.

INTRODUCTION: The surgery of epilepsy is expanding considerably all over the world. It is becoming a standard treatment in patients who are resistant to conventional medical treatment. DEVELOPMENT: In this article we explain the methodology used by the authors and suggest concepts regarding the epileptogenous area. We also explain the procedures used in neuroimaging and neurophysiology studies. CONCLUSIONS: Good methodology, such as that used by the authors, results in up to 65% of the patients in whom amygdalo-hippocampectomy is done becoming completely seizure-free. Amygdalo-campectomy is the most specific indication in mesolimbic temporal epilepsy, which is also the main indication for the surgery of epilepsy.

Indicaciones del tratamiento quirúrgico de la epilepsia / Indications for the surgical treatment of epilepsy

Introducción. La cirugía de la epilepsia está adquiriendo un desarrollo extraordinario en todo el mundo y se va incorporando como una terapia estándar en aquellos pacientes refractarios al tratamiento médico convencional. Desarrollo. En este artículo se explica la metodología utilizada y seguida por los autores y se sugiere una conceptualización del área epileptógena; se explica asimismo el procedimiento a seguir en los estudios de neuroimagen y neurofisiológico. Conclusiones. Una buena metodología como la seguida por los autores consigue, en el caso de la amígdalo-hipocampectomía selectiva, que hasta un 65 por ciento de los pacientes queden totalmente libres de crisis. La amígdalo-hipocampectomía es la indicación más específica para la epilepsia temporal mesolímbica que, a su vez, es la primera indicación de cirugía de epilepsia (AU)

[Epidemiologic study of myotonic dystrophy on the island of Mallorca]. / Estudio epidemiológico de la distrofia miotónica en la isla de Mallorca.

Myotonic dystrophy (MD) or Steinert's disease is the most frequent hereditary myopathy in the adult. The aim of this study was to determine the rate of prevalence of MD on the island of Mallorca. Patients diagnosed with MD were studied in all public and private surgeries and centres able to diagnose this disease on the island of Mallorca. Therefore, this study included the whole population of Mallorca (551,129 inhabitants). A total of 60 cases were studied representing a prevalence rate of 110 cases per one million inhabitants. The patients were further classified according to the existence of family history and were geographically located into the different towns. The prevalence rate found was much higher than that described in the literature which oscillates between 30 and 50 cases per million inhabitants. Furthermore, there was a concentration of cases in 10 of the 52 towns of the island with the presence of 2 cases in 6 being significant. The rate of prevalence of the disease in the city of Palma (295,136 inhabitants) representing more than half of the population of the island was very similar (120 per million) to that found for the population as a whole.