RESUMO
Benign childhood epilepsy with centrotemporal spikes (BECTS) is regarded as a benign form of epilepsy because of its usually favorable outcome, in terms of seizures. Eighteen children with BECTS were studied in terms of neuropsychological and learning abilities: intellectual quotient, oral language (phonological production, naming skills, verbal fluency and syntactic comprehension), drawing and visuo-spatial skills, visual and selective attention, verbal and visuo-spatial memory, reading, numeracy and spelling. The mean IQ of the population was within the normal range, but individual results were heterogeneous. Verbal functions and memory were normal. In contrast, drawing and visuo-spatial skills, attention and visuo-spatial memory were significantly weak compared to the normal range for age. Reading, numeracy and/or spelling ability were significantly delayed by one academic year or more in ten of the children. In conclusion, despite its benign outcome in terms of epilepsy, BECTS can be accompanied by specific cognitive disorders and low academic achievement.
Assuntos
Cognição , Epilepsia Rolândica/psicologia , Inteligência , Aprendizagem , Anticonvulsivantes/uso terapêutico , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia Rolândica/tratamento farmacológico , Epilepsia Rolândica/patologia , Feminino , Humanos , Masculino , Testes Neuropsicológicos , Estudos Retrospectivos , Comportamento VerbalRESUMO
Mutation of the gene for alpha-tocopherol transfer protein causes ataxia with isolated vitamin E deficiency, a disorder usually stabilized or improved after vitamin E supplementation. Dystonia has rarely been described in ataxia with isolated vitamin E deficiency (AVED) patients. We present the case of a young boy with AVED, whose neurological and extra-neurological cardinal symptoms of the disease improved after vitamin E supplementation but who progressively developed generalized dystonia.
Assuntos
Distonia/etiologia , Deficiência de Vitamina E/complicações , alfa-Tocoferol/análogos & derivados , Adolescente , Ataxia/etiologia , Ataxia/genética , Proteínas de Transporte/genética , Criança , Potenciais Somatossensoriais Evocados/fisiologia , Humanos , Masculino , Mutação , Pró-Fármacos/uso terapêutico , Tocoferóis , Vitamina E/sangue , Deficiência de Vitamina E/tratamento farmacológico , Deficiência de Vitamina E/genética , Deficiência de Vitamina E/fisiopatologia , alfa-Tocoferol/uso terapêuticoRESUMO
We report three children of the same parents who exhibited various types of cognitive disorders, ranging from severe mental deficiency with transient autistic-like regression to specific neuropsychological disabilities, associated with paroxysmal EEG abnormalities with various patterns of severity. This familial association highly suggests a genetic factor responsible for both epileptic discharges on EEG and cognitive dysfunction.