Epileptic spasms without hypsarrhythmia in infancy and childhood: tonic spasms as a seizure type.

Epileptic spasms were defined by the International League Against Epilepsy Task Force on Classification and Terminology in 2001 as a specific seizure type. Epileptic spasms without hypsarrhythmia have been described in some series of patients, occurring either in infancy or childhood. More prolonged epileptic spasms without hypsarrhythmia were previously defined as a different seizure type, and referred to as "tonic spasm seizures". Here, we present a 5-year-old boy who started having epileptic spasms without hypsarrhythmia at 8 months of age, effectively treated with oxcarbazepine. With the withdrawal of medication, epileptic spasms returned. Video-EEG monitoring revealed high-voltage slow waves superimposed by low-voltage fast activity, followed by an electrodecremental phase and a burst of asymmetric fast activity, time-locked to clinical tonic spasm seizures. Brain MRI showed left temporal atrophy with temporal pole grey/white matter junction blurring and ictal PET-CT showed left basal frontal hypermetabolism. Seizures were refractory to several AEDs and vigabatrin was introduced with seizure cessation. Despite efforts to classify epileptic spasms, these are still considered as part of the group of unknown seizure types. In some cases, a focal origin has been suggested, leading to the term "periodic spasms" and "focal spasms". In this case, epileptic spasms without hypsarrhythmia, associated with tonic spasms, may be a variant of focal spasms and might be considered as an epileptic syndrome. [Published with video sequence].

Evolution of non-treated restless legs syndrome.

PURPOSE: The primary concern of this study is to evaluate the clinical course of restless legs syndrome (RLS) in a group of patients who refused treatment. METHOD: This study compares the outcome of a group of RLS patients after one year without any specific treatment. The International Restless Legs Syndrome Scale (IRLS) was applied at baseline (irls_1) and after one year (irls_2). The patients answered a simple questionnaire for the evaluation of possible environmental or life habit changes after one-year evolution. Serum ferritin was determined at baseline. An improvement index (%improvement) was established through the formula: irls_1- irls_2/irls_1 x 100. Results were compared and a correlation analysis performed. RESULTS: A negative significant correlation was found between the patients' age and irls_2 (r= -0.9 p=0.0018) and between %improvement and irls_2 (r= -0.88 p=0.0039). A positive and significant correlation was determined between %improvement and age. There was only a marginally significant correlation between serum ferritin and ilrs_2 (r= -0.7 p=0.052). No significant changes were found in the other elements analyzed. CONCLUSION: A favorable outcome was found in this group of RLS patients after one year evolution without treatment. The outcome was positively influenced by the patients' age.

Evolution of non-treated restless legs syndrome / Síndrome das pernas inquietas: evolução após um ano sem tratamento

PURPOSE: The primary concern of this study is to evaluate the clinical course of restless legs syndrome (RLS) in a group of patients who refused treatment. METHOD: This study compares the outcome of a group of RLS patients after one year without any specific treatment. The International Restless Legs Syndrome Scale (IRLS) was applied at baseline (irls_1) and after one year (irls_2). The patients answered a simple questionnaire for the evaluation of possible environmental or life habit changes after one-year evolution. Serum ferritin was determined at baseline. An improvement index ( percentimprovement) was established through the formula: irls_1- irls_2/irls_1 ' 100. Results were compared and a correlation analysis performed. RESULTS: A negative significant correlation was found between the patientsí age and irls_2 (r= -0.9 p=0.0018) and between percentimprovement and irls_2 (r= -0.88 p=0.0039). A positive and significant correlation was determined between percentimprovement and age. There was only a marginally significant correlation between serum ferritin and ilrs_2 (r= -0.7 p=0.052). No significant changes were found in the other elements analyzed. CONCLUSION: A favorable outcome was found in this group of RLS patients after one year evolution without treatment. The outcome was positively influenced by the patientsí age.

OBJETIVO: O objetivo deste estudo é avaliar a evolução de oito pacientes com diagnóstico de síndrome das pernas inquietas (SPI) após doze meses sem tratamento. MÉTODO: Estudo de coorte, retrospectivo, consistindo na aplicação da escala de gravidade da SPI (IRLS), de questionário para avaliação de mudanças ambientais ou de hábitos de vida e dosagem de ferritina sérica. Realizada comparação da pontuação IRLS obtida na consulta inicial (irls_1) e após doze meses de evolução (irls_2) e estabelecido um índice de melhora percentual ( por centomelhora=irls_1 - irls_2 / irls_1 ' 100). Análise de correlação dos dados obtidos. RESULTADOS: Foi demonstrada correlação negativa e significativa entre a idade e a irls_2 (r= -0,9 e p=0,0018) e entre por centomelhora e irls_2 (r= -0,88 e p=0,0039). Encontrou-se correlação positiva e significativa entre por centomelhora e a idade. Houve apenas correlação negativa marginalmente não-significativa entre a dosagem de ferritina sérica e ilrs_2 (r= -0,7 e p=0,052). CONCLUSÃO: Neste grupo demonstrou-se evolução favorável da SPI após doze meses que se correlacionou positivamente com a idade dos pacientes, não tendo sido influenciada aparentemente por hábitos de vida ou mudanças ambientais.