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A epilepsia representa uma afecção neurológica comum e, em pelo menos um quarto dos casos, o controlo das crises revela-se difícil. As Malformações do Desenvolvimento Cortical são a segunda causa mais frequente de epilepsia refractária e resultam da interrupção do normal desenvolvimento embriológico cortical. No presente estudo descrevem-se quatro casos clínicos de doentes com crises epilépticas refractárias. Tratou-se de uma criança, uma adolescente e dois adultos nos quais o início da epilepsia ocorreu entre a infância e adolescência, com crises parciais de apresentação. O diagnóstico imagiológico in vivo demonstrou a presença de malformações do desenvolvimento cortical, nomeadamente dois casos de displasia cortical focal e dois casos de malformação por anomalia da migração neuronal. O factor determinante para a presunção etiológica foi o recurso à neuroimagem pelo que se recomenda a utilização dos meios de diagnóstico imagiológicos mais avançados para doentes em contexto clínico semelhante.
Epilepsy represents a common neurologic disease, and at least one fourth of the cases have a difficult control. Malformations of Cortical Development are the second cause of refractory epilepsy, arising from the interruption to the normal cortical embryological development. In the present study, four clinical cases from patients with refractory epilepsy are described, mentioning, one child, one adolescent and two adults, whose epilepsy begun early in infancy or adolescence, with partial seizures at presentation. Image diagnosis in vivo showed malformations of cortical development: two cases of focal cortical dysplasia and two malformation cases caused by abnormalities of neuronal migration. The key factor for etiology assumption was the use of neuroimaging, for which we recommend using most advanced imagiologic diagnosing means for patients sharing the same clinical presentation.
Epilepsy represents a common neurologic disease, and at least one fourth of the cases have a difficult control. Malformations of Cortical Development are the second cause of refractory epilepsy, arising from the interruption to the normal cortical embryological development. In the present study, four clinical cases from patients with refractory epilepsy are described, mentioning, one child, one adolescent and two adults, whose epilepsy begun early in infancy or adolescence, with partial seizures at presentation. Image diagnosis in vivo showed malformations of cortical development: two cases of focal cortical dysplasia and two malformation cases caused by abnormalities of neuronal migration. The key factor for etiology assumption was the use of neuroimaging, for which we recommend using most advanced imagiologic diagnosing means for patients sharing the same clinical presentation.
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Epilepsia refractária Malformação do desenvolvimento cortical Displasia cortical focal Heterotopia
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Universidade da Beira Interior