ABSTRACT
Febrile seizures are the most common seizures in childhood. They have been observed in 2-5
of children before the age of 5, but in some populations this figure may increase to 15
. It is a common cause of pediatric hospital admissions and cause of anxiety for parents. Febrile seizures could be the first manifestation of epilepsy. About 13
of epileptic patients have a history of febrile seizure, and 30
have had recurrent febrile seizures. Their phenotypic characteristics allow, in the majority of cases, a classification of the seizure, an elaboration of a prognosis and to assume a specific therapeutic attitude. It is possible to describe a spectrum according to their severity, from the benign simple seizure to the more complex, febrile seizure plus, Dravetsyndrome, and FIRES. During the past decade, molecular genetic studies have contributed to the identification of genetic factors involved in febrile seizure and related disorders, making the necessity of a careful follow up of these patients in order to detect risk factors earlier. We have reviewed the medical literature to update current knowledge of febrile seizures, their prognosis and their relation to new epileptic syndromes.
Subject(s)
Seizures, Febrile/genetics , Epilepsy, Generalized/genetics , Seizures, Febrile/physiopathology , Child , Epilepsy, Generalized/physiopathology , Epilepsies, Myoclonic/physiopathology , Epilepsies, Myoclonic/genetics , Age Factors , Female , Phenotype , Humans , Male , Child, Preschool , Orofaciodigital Syndromes/physiopathology , Orofaciodigital Syndromes/geneticsABSTRACT
El Síndrome de Rett es una enfermedad neurodegenerativa, de etiología desconocida, el cual ha sido descrito solamente en niñas y se carateriza por un comportamiento autístico, demencia, ataxia, movimiento estereotipados de las manos, convulsiones y alteraciones en el patrón respiratorio. Aún no existe tratamiento específico y las pacientes fallecen alrededor de la segunda a tercera década de la vida. Presentamos los primeros cuatro casos clínicos descritos en Panamá. Se realiza una revisión de los criterios para considerar el síndrome y se estimula a la comunidad pediátrica a reconocerlo, ya que la mayoría de estas niñas han sido mal clasificadas como autistas o con paralisis cerebral