[West syndrome: aetiology, therapeutic options, clinical course and prognostic factors]. / Sindrome de West: etiologia, opciones terapeuticas, evolucion clinica y factores pronosticos.

INTRODUCTION: West syndrome is an age-specific form of epilepsy that associates infantile spasms, hypsarrhythmia and a delay in or the complete stoppage of psychomotor development, although this last case is not essential. AIMS: To define the profile of West syndrome in our environment by taking into account its aetiology, semiology, response to different therapeutic options and the appearance of side effects, as well as to establish prognostic factors that determine its course. PATIENTS AND METHODS: A data collection document stating the eligibility criteria was drafted. Data were collected by reviewing the medical records of patients diagnosed with West syndrome during the period between January 2003 and January 2009. Later, a statistical study was conducted with descriptive analysis and the level of statistical significance of the possible prognostic factors was established. RESULTS: The study included 70 patients. There was a predominance of symptomatic aetiology, with hypoxia-ischaemia as the main cause. Regardless of the aetiology, 58% of patients responded to treatment with vigabatrine. Over 80% of patients being treated with adrenocorticotropic hormone were finally seizure-free and without hypsarrhythmia. Almost half the patients progressed to other epilepsies. CONCLUSIONS: The statistically significant poor prognostic factors were: existence of a prenatal history, neonatal history, symptomatic aetiology, age of onset below 4 months, epileptic seizures before the onset of the spasms and outside the neonatal period, and delayed psychomotor development prior to the onset of the spasms.

Crisis epilépticas en el síndrome de Angelman / Epileptic seizures in angelman syndrome

Introducción. El síndrome de Angelman (SA) es un trastorno de base genética heterogénea caracterizado por retraso mental grave, ausencia del lenguaje, ataxia, dismorfia craneofacial y un fenotipo conductual característico. Pacientes y métodos. Se analizan 12 pacientes diagnosticados de SA y epilepsia, con una edad media de 10,9 años. El estudio se centra en las características de la epilepsia y trata de correlacionar los hallazgos con el genotipo de la enfermedad. Resultados. Todos presentaron crisis generalizadas de inicio precoz y, salvo uno, crisis polimorfas. Ocho de ellos presentaron también crisis focales. Todos los pacientes mostraban alteraciones electroencefalográficas antes de los dos años. Aunque no hay alteracionespatognomónicas en el electroencefalograma (EEG), su conocimiento en el SA puede ser un importante elemento de valoración para el diagnóstico precoz de esta entidad. En nuestra serie, todos los pacientes con deleción 15q11-13 presentaron el EEG típico de la enfermedad. El fármaco antiepiléptico más usado y más eficaz fue el ácido valproico (utilizado en todos lospacientes), seguido de lamotrigina y clobazam. En algún paciente se ensayaron hasta 10 fármacos antiepilépticos. La epilepsia suele ser de inicio muy precoz, e incluso precede al diagnóstico de SA en la mayoría de los casos, por lo que las crisis epilépticas pueden ser un elemento importante para llegar a un diagnóstico precoz. Es fundamental la adecuada tipificación de dichas crisis. Conclusión. El SA debe considerarse como diagnóstico diferencial en aquellos niños que presenten una epilepsiaprecoz y grave, en unión de un retraso psicomotor, con importante afectación de la marcha y el lenguaje. Este diagnóstico está apoyado por los hallazgos típicos en el EEG

Introduction. Angelman syndrome (AS) is a heterogeneous genetically-based disorder that is characterised bysevere mental retardation, absence of language, ataxia, craniofacial dysmorphia and a characteristic behavioural phenotype.Patients and methods. We analyse 12 patients with a mean age of 10.9 years diagnosed with AS. The study focuses on the characteristics of epilepsy and attempts to correlate the findings with the genotype of the disease. Results. All the patients presented early-onset generalised seizures and all except one had polymorphic seizures. Eight of them also presented focalseizures. All the patients displayed electroencephalographic alterations before the age of two years. Although there are no pathognomonic abnormalities in the electroencephalogram (EEG), knowledge of them in AS can be an important element ofassessment for reaching an early diagnosis of this condition. In our series, all the patients with 15q11-13 deletion presented an EEG pattern that was typical of the disease. The most commonly used and most effective antiepileptic drug was valproic acid (used in all patients), followed by lamotrigine and clobazam. Up to 10 antiepileptic drugs had been tried in some patients. Epilepsy usually has a very early onset and even precedes the diagnosis of AS in most cases, which means that the epileptic seizures can be an important aid in reaching an early diagnosis. Suitable classification of such seizures is essential.Conclusions. AS must be considered as a differential diagnosis in children who present early severe epilepsy together with psychomotor retardation and important gait and language disorders. This diagnosis is backed by the typical findings in the EEG

[Epileptic seizures in Angelman syndrome]. / Crisis epilépticas en el síndrome de Angelman.

INTRODUCTION: Angelman syndrome (AS) is a heterogeneous genetically-based disorder that is characterised by severe mental retardation, absence of language, ataxia, craniofacial dysmorphia and a characteristic behavioural phenotype. PATIENTS AND METHODS: We analyse 12 patients with a mean age of 10.9 years diagnosed with AS. The study focuses on the characteristics of epilepsy and attempts to correlate the findings with the genotype of the disease. RESULTS: All the patients presented early-onset generalised seizures and all except one had polymorphic seizures. Eight of them also presented focal seizures. All the patients displayed electroencephalographic alterations before the age of two years. Although there are no pathognomonic abnormalities in the electroencephalogram (EEG), knowledge of them in AS can be an important element of assessment for reaching an early diagnosis of this condition. In our series, all the patients with 15q11-13 deletion presented an EEG pattern that was typical of the disease. The most commonly used and most effective antiepileptic drug was valproic acid (used in all patients), followed by lamotrigine and clobazam. Up to 10 antiepileptic drugs had been tried in some patients. Epilepsy usually has a very early onset and even precedes the diagnosis of AS in most cases, which means that the epileptic seizures can be an important aid in reaching an early diagnosis. Suitable classification of such seizures is essential. CONCLUSIONS: AS must be considered as a differential diagnosis in children who present early severe epilepsy together with psychomotor retardation and important gait and language disorders. This diagnosis is backed by the typical findings in the EEG.