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  • Title: [Therapeutic possibilities in refractory epilepsy in tuberous sclerosis complex].
    Author: Puertas-Martin V, Carreras-Saez I, Marana A, Ruiz-Falco Rojas ML, Cantarin-Extremera V, Calleja-Gero ML.
    Journal: Rev Neurol; 2014 Jun 16; 58(12):529-35. PubMed ID: 24915028.
    Abstract:
    INTRODUCTION: Tuberous sclerosis complex (TSC) is frequently accompanied by difficult-to-treat epilepsy, which conditions these patients' quality of life and cognitive level. AIM. To describe the epidemiological and clinical characteristics, as well as the treatment of patients affected by TSC with epilepsy. PATIENTS AND METHODS: A retrospective review was carried out of the medical records of 30 patients aged under 18 registered in our database, who had been diagnosed with TSC and epilepsy. RESULTS: The age at onset of epilepsy in the patients with TSC in our series ranged from one month to four years. All of them began with partial crises. Two presented West's syndrome and four others had infantile spasms without hypsarrhythmia. In 19 of the patients, the epilepsy was medication resistant. As regards treatment with antiepileptic drugs, 11 are in monotherapy, 10 in bitherapy, seven in tritherapy and one with four drugs. Two were given ACTH, two carry an implanted vagal nerve stimulator, four receive treatment with everolimus and eight have undergone surgery. CONCLUSIONS: Epilepsy is a very common problem and begins in the early years of life in TSC. There are currently a large number of therapeutic options available, although 63.3% of patients have non-controlled epilepsy and most of them present crises on a daily basis. Poor control of their crises is correlated with mental retardation and autism spectrum disorder. The positive response obtained with other therapeutic possibilities, such as mTOR pathway inhibitors, surgery and vagal nerve stimulator, should be noted. TITLE: Posibilidades terapeuticas en la epilepsia refractaria en el complejo esclerosis tuberosa. UNLABELLED: Introduccion. El complejo esclerosis tuberosa (CET) cursa frecuentemente con epilepsia de dificil control, lo que condiciona la calidad de vida y el nivel cognitivo de estos pacientes. Objetivo. Describir las caracteristicas epidemiologicas, clinicas y el tratamiento de los pacientes afectos de CET con epilepsia. Pacientes y metodos. Se han revisado retrospectivamente las historias clinicas de 30 pacientes menores de 18 años, diagnosticados de CET y epilepsia registrados en nuestra base de datos. Resultados. La edad de inicio de la epilepsia en los pacientes con CET en nuestra serie esta comprendida entre el primer mes de vida y los 4 años. Todos comenzaron con crisis parciales. Dos presentaron sindrome de West y cuatro, espasmos infantiles sin hipsarritmia. En 19 de los pacientes, la epilepsia se comporto como farmacorresistente. Respecto al tratamiento con farmacos antiepilepticos, 11 estan en monoterapia, 10 en biterapia, siete en triterapia y uno con cuatro farmacos. Dos recibieron ACTH, dos tienen implantado un estimulador del nervio vago, cuatro reciben tratamiento con everolimus y ocho han sido sometidos a cirugia. Conclusiones. La epilepsia es un problema muy frecuente y de inicio en los primeros años de vida en el CET. Las opciones terapeuticas actuales son muchas, sin embargo el 63,3% de los pacientes tiene una epilepsia no controlada y la mayoria de ellos presenta crisis diarias. El mal control de las crisis se correlaciona con retraso mental y trastorno del espectro autista. Señalar la respuesta positiva obtenida con otras posibilidades terapeuticas: inhibidores de la via mTOR, cirugia y el estimulador del nervio vago.
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