Las evoluciones atípicas de la epilepsia rolándica son complicaciones predecibles / The atypical developments of rolandic epilepsy are predictable complications

Introducción. Las evoluciones atípicas de la epilepsia rolándica son parte de un espectro clínico de fenotipos variables, idiopáticos, dependientes de la edad y con una predisposición genéticamente determinada. Objetivo. Estudiar las características electroclínicas sugestivas de una evolución atípica en la epilepsia rolándica. Pacientes y métodos. Se realizó una búsqueda retrospectiva de 133 niños diagnosticados de epilepsia focal benigna atípica (EFBA), síndrome de Landau-Kleffner y epilepsia de punta-onda continua durante el sueño (POCS). Se seleccionaron nueve pacientes que, en el trascurso de su epilepsia rolándica, presentaron un cuadro clínico atípico y un patrón electroencefalográfico (EEG) de estado epiléptico eléctrico durante el sueño (ESES). Resultados. El inicio de la epilepsia rolándica fue, en promedio, a los 5 años. Los pacientes presentaron un empeoramiento clínico y del EEG año y medio más tarde en promedio. En tres pacientes se observaron características de EFBA, y en seis, de POCS. No se encontraron casos de síndrome de Landau-Kleffner. El EEG en vigilia mostró una focalidad centrotemporal izquierda en seis pacientes, y derecha, en tres. Todos los pacientes presentaron un ESES en el EEG de sueño. En tres de ellos se observó un patrón atípico de ESES regional. Además, se detectaron alteraciones cognitivas y conductuales por déficits en áreas específicas del aprendizaje, como lenguaje, memoria, atención e inquietud. Conclusiones. El inicio precoz de la epilepsia rolándica, la aparición de nuevas crisis con un incremento en su frecuencia y una focalidad frontocentrotemporal en el EEG, que aumenta en frecuencia, tanto en vigilia como en sueño, son características electroclínicas sugerentes de una evolución atípica (AU)

Introduction. The development of atypical features in rolandic epilepsy is part of a clinical spectrum of phenotypes that are variable, idiopathic and age-dependent, as well as having a genetically determined predisposition. Aim. To study the electroclinical characteristics suggesting an atypical development in rolandic epilepsy Patients and methods. A retrospective search was performed in 133 children diagnosed with atypical benign focal epilepsy (ABFE), Landau-Kleffner syndrome and continuous spike-wave during sleep (CSWS). Nine patients were selected, all of whom presented atypical clinical features and an electroencephalogram (EEG) pattern of electrical status epilepticus during sleep (ESES) in the course of their rolandic epilepsy. Results. The average age at onset of rolandic epilepsy was 5 years. Patients showed a deterioration of both their clinical features and their EEG recording one and a half years later, on average. ABFE was observed in three of them and CSWS in six. No cases of Landau-Kleffner syndrome were found. The EEG in wakefulness showed the focus to be in the left centrotemporal region in six patients and in three of them it was on the right-hand side. All the patients presented ESES in the EEG during sleep. An atypical pattern was observed in the regional ESES in three of the patients. Moreover, cognitive and behavioural disorders were detected due to deficits in specific learning areas, such as language, memory, attention and restlessness. Conclusions. The early onset of rolandic epilepsy, the appearance of new seizures with an increased frequency and the frontocentrotemporal focus in the EEG, which increases in frequency, both in wakefulness and in sleep, are all electroclinical characteristics of an atypical development (AU)

[The atypical developments of rolandic epilepsy are predictable complications]. / Las evoluciones atipicas de la epilepsia rolandica son complicaciones predecibles.

INTRODUCTION: The development of atypical features in rolandic epilepsy is part of a clinical spectrum of phenotypes that are variable, idiopathic and age-dependent, as well as having a genetically determined predisposition. AIM: To study the electroclinical characteristics suggesting an atypical development in rolandic epilepsy. PATIENTS AND METHODS: A retrospective search was performed in 133 children diagnosed with atypical benign focal epilepsy (ABFE), Landau-Kleffner syndrome and continuous spike-wave during sleep (CSWS). Nine patients were selected, all of whom presented atypical clinical features and an electroencephalogram (EEG) pattern of electrical status epilepticus during sleep (ESES) in the course of their rolandic epilepsy. RESULTS: The average age at onset of rolandic epilepsy was 5 years. Patients showed a deterioration of both their clinical features and their EEG recording one and a half years later, on average. ABFE was observed in three of them and CSWS in six. No cases of Landau-Kleffner syndrome were found. The EEG in wakefulness showed the focus to be in the left centrotemporal region in six patients and in three of them it was on the right-hand side. All the patients presented ESES in the EEG during sleep. An atypical pattern was observed in the regional ESES in three of the patients. Moreover, cognitive and behavioural disorders were detected due to deficits in specific learning areas, such as language, memory, attention and restlessness. CONCLUSIONS: The early onset of rolandic epilepsy, the appearance of new seizures with an increased frequency and the frontocentrotemporal focus in the EEG, which increases in frequency, both in wakefulness and in sleep, are all electroclinical characteristics of an atypical development.

TITLE: Las evoluciones atipicas de la epilepsia rolandica son complicaciones predecibles.Introduccion. Las evoluciones atipicas de la epilepsia rolandica son parte de un espectro clinico de fenotipos variables, idiopaticos, dependientes de la edad y con una predisposicion geneticamente determinada. Objetivo. Estudiar las caracteristicas electroclinicas sugestivas de una evolucion atipica en la epilepsia rolandica. Pacientes y metodos. Se realizo una busqueda retrospectiva de 133 niños diagnosticados de epilepsia focal benigna atipica (EFBA), sindrome de Landau-Kleffner y epilepsia de punta-onda continua durante el sueño (POCS). Se seleccionaron nueve pacientes que, en el trascurso de su epilepsia rolandica, presentaron un cuadro clinico atipico y un patron electroencefalografico (EEG) de estado epileptico electrico durante el sueño (ESES). Resultados. El inicio de la epilepsia rolandica fue, en promedio, a los 5 años. Los pacientes presentaron un empeoramiento clinico y del EEG año y medio mas tarde en promedio. En tres pacientes se observaron caracteristicas de EFBA, y en seis, de POCS. No se encontraron casos de sindrome de Landau-Kleffner. El EEG en vigilia mostro una focalidad centrotemporal izquierda en seis pacientes, y derecha, en tres. Todos los pacientes presentaron un ESES en el EEG de sueño. En tres de ellos se observo un patron atipico de ESES regional. Ademas, se detectaron alteraciones cognitivas y conductuales por deficits en areas especificas del aprendizaje, como lenguaje, memoria, atencion e inquietud. Conclusiones. El inicio precoz de la epilepsia rolandica, la aparicion de nuevas crisis con un incremento en su frecuencia y una focalidad frontocentrotemporal en el EEG, que aumenta en frecuencia, tanto en vigilia como en sueño, son caracteristicas electroclinicas sugerentes de una evolucion atipica.

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.

Mutations conferring loss of function at the FLNA (encoding filamin A) locus lead to X-linked periventricular nodular heterotopia (XL-PH), with seizures constituting the most common clinical manifestation of this disorder in female heterozygotes. Vascular dilatation (mainly the aorta), joint hypermobility and variable skin findings are also associated anomalies, with some reports suggesting that this might represents a separate syndrome allelic to XL-PH, termed as Ehlers-Danlos syndrome-periventricular heterotopia variant (EDS-PH). Here, we report a cohort of 11 males and females with both hypomorphic and null mutations in FLNA that manifest a wide spectrum of connective tissue and vascular anomalies. The spectrum of cutaneous defects was broader than previously described and is inconsistent with a specific type of EDS. We also extend the range of vascular anomalies associated with XL-PH to included peripheral arterial dilatation and atresia. Based on these observations, we suggest that there is little molecular or clinical justification for considering EDS-PH as a separate entity from XL-PH, but instead propose that there is a spectrum of vascular and connective tissues anomalies associated with this condition for which all individuals with loss-of-function mutations in FLNA should be evaluated. In addition, since some patients with XL-PH can present primarily with a joint hypermobility syndrome, we propose that screening for cardiovascular manifestations should be offered to those patients when there are associated seizures or an X-linked pattern of inheritance.