RESUMO
INTRODUCTION: The Lennox-Gastaut syndrome (LGS) is one of the most severe epileptic encephalopathies of childhood, characterized by electro-clinical triad of generalized spike-wave activity, slow (POL) in the electroencephalogram (EEG), multiple types of seizures and development delay. This paper intends to describe the syndrome in a patient with a history of hypoxic-ischaemic encephalopathy and Lennox-Gastaut syndrome, and a good response to treatment with levetiracetam (LEV). METHOD: Descriptive study on the development of a 3 year old child with intrauterine asphyxia, multiorgan failure, metabolic acidosis, hypovolemic shock, and seizures with cerebral oedema, who developed a West syndrome, resistant to drug treatment. The semiology of seizures progressively changed to generalized episodes of hypertonia and myoclonus, with slow spike-wave electroencephalographic activity. RESULTS: With the diagnosis of Lennox-Gastaut syndrome the patient was treated with levetiracetam, showing a substantial improvement in the cognitive sphere, in the control of seizures, and electroencephalographic findings. CONCLUSIONS: Lennox-Gastaut syndrome is one of the most severe epileptic syndromes in paediatric patients. Levetiracetam can help cognitive improvement, and contribute to seizure control in these patients.
Assuntos
Anticonvulsivantes/uso terapêutico , Deficiência Intelectual/tratamento farmacológico , Piracetam/análogos & derivados , Espasmos Infantis/tratamento farmacológico , Pré-Escolar , Humanos , Síndrome de Lennox-Gastaut , Levetiracetam , Masculino , Piracetam/uso terapêuticoRESUMO
Panayiotopoulos syndrome is encompassed in the classification of the ILAE in idiopathic focal epilepsies. Mutations in the SCN1A gene have been associated with the development of this syndrome. We present two cases of Panayiotopoulos syndrome in two monozygotic twins, who underwent a molecular analysis of SCN1A, but no alteration was found. These cases suggest a genetic origin, and SCN1A appears to be associated with the outcome but not with the development of this syndrome.
Assuntos
Cistos Aracnóideos/genética , Doenças do Sistema Nervoso Autônomo/genética , Epilepsias Parciais/genética , Predisposição Genética para Doença/genética , Mutação/genética , Proteínas do Tecido Nervoso/genética , Canais de Sódio/genética , Cistos Aracnóideos/patologia , Doenças do Sistema Nervoso Autônomo/metabolismo , Pré-Escolar , Epilepsias Parciais/metabolismo , Humanos , Masculino , Canal de Sódio Disparado por Voltagem NAV1.1 , Síndrome , Gêmeos/genéticaRESUMO
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