Summary Purpose: Fever induced refractory epileptic encephalopathy in school age children (FIRES) is a devastating condition initiated by prolonged perisylvian refractory status epilepticus (SE) triggered by fever of unknown cause. SE may last more than 1 month, and this condition may evolve into pharmacoresistant epilepsy associated with severe cognitive impairment. We aimed to report the effect of ketogenic diet (KD) in this condition. Methods: Over the last 12 years we collected data of nine patients with FIRES who received a 4:1 ratio of fat to combined protein and carbohydrate KD. They presented with SE refractory to conventional antiepileptic treatment. Results: In seven patients, KD was efficacious within 2–4 days (mean 2 days) following the onset of ketonuria and 4–6 days (mean 4.8 days) following the onset of the diet. In one responder, early disruption of the diet was followed by relapse of intractable SE, and the patient died. Epilepsy affected the other six responders within a few months. Discussion: KD may be an alternative therapy for refractory SE in FIRES and might be proposed in other types of refractory SE in childhood.
PurposeNeurosurgery appears to be a reasonable alternative in carefully selected patients with refractory status epilepticus (RSE) and super-refractory status epilepticus (SRSE). We discuss the optimal timing of the surgery and the use of previous stereoelectroencephalography (SEEG) invasive evaluation.MethodsWe identified 3 patients (two pediatric and one adult) who underwent epilepsy surgery because of RSE or SRSE from our epilepsy surgery database, one of them with previous SEEG.ResultsStatus epilepticus resolved acutely in all of them with no mortality and no substantial morbidity. At follow-up (median: 2 years), 1 patient was seizure-free, and 2 had significant improvement.ConclusionSurgery should be considered in all cases of RSE and SRSE early in the course of the evolution of the disease.
Aims . Familial focal epilepsy with variable foci is a relatively rare autosomal disease with an unclear incidence, which is characterized by focal seizures arising from different cortical regions in different family members. Methods . We describe three members of a two‐generation Argentine family with familial focal epilepsy with variable foci syndrome and a DEPDC5 gene mutation. Results . The mean onset age was nine years old. The father experienced episodes with occipital semiology and both siblings exhibited frontal lobe seizures. Their neurological examination and neuroimaging studies were normal. All three patients are currently seizure‐free, in spite of initially experiencing frequent seizures. Complete exome sequencing revealed a new DEPDC5 gene mutation (NM_001242896: c.4718T>C; p.L1573P). Conclusions . This study of a family with clinical characteristics that met all the criteria for familial focal epilepsy with variable foci demonstrates the usefulness of exome sequencing as a diagnostic tool. [ Published with video sequence on www.epilepticdisorders.com ]
Background: Newborns with congenital heart disease have a high risk of seizures, associated to developmental delay, cerebral palsy, and epilepsy.In this study we analyzed the etiology of seizures, electroencephalographic findings and outcome of newborns with congenital heart disease and seizures.Methods: We retrospectively identified 29 newborns with congenital heart disease, who presented with at least one seizure during their admission to the Neonatal Intensive Care Unit of the Hospital Italiano.Results: All newborns had structural/metabolic seizures. Median gestational age was 38 weeks (30-40 weeks, four pre-term) and median birth weight was 3100 g. (range: 1200-4375). Neurological exam was normal in seven neonates (24%), fourteen had only one seizure and four developed status epilepticus. The EEGs were abnormal in 21 newborns (72%). Ten showed focal paroxysms, ten showed minimal alterations with low amplitude and one had a burst-suppression pattern.Nine newborns (31%) died, due to hemodynamic decompensation. They all had an abnormal EEG (p=0.027), an abnormal neurological exam (p: 0.05) and four presented status epilepticus. (p=0.0053).At six months, two more newborns died and two had refractory epilepsy. Of the 18 patients, six had a normal neurological exam. These 6 patients, had had a normal neonatal neurological exam before hospital discharge and four had had only one seizure. Of the six newborns, five had a normal EEG (p= 0.03).Conclusions: In this population we observed a high mortality and an adverse neurological outcome. Abnormal EEG, abnormal neurological exam and status epilepticus were significantly related to mortality.
RESUMENLa cirugía de la epilepsia en niños con epilepsia refractaria es uno de los métodos más efectivos para obtener el control de crisis epilépticas. La apropiada selección y evaluación de los candidatos es fundamental para alcanzar una adecuada efectividad y seguridad del tratamiento quirúrgico. El objetivo es presentar nuestra experiencia con 43 pacientes pediátricos consecutivos sometidos a tratamiento quirúrgico de su epilepsia refractaria entre septiembre de 2005 y mayo de 2014. Se analizó la efectividad, la seguridad y los factores pronósticos. La mediana de edad de la cirugía fue de 12 años y la mediana de edad del inicio de la epilepsia fue 4,5 años, con una latencia hasta la cirugía de 6 años. Los 43 pacientes se encuentran en seguimiento con una mediana de 5,4 años (±2,3) desde la cirugía. Los procedimientos realizados fueron, en 32 pacientes, cirugías resectivas y, en 11, desconexiones hemisféricas. Un 62,8% de los pacientes permanecen libres de crisis. Los pacientes que se operaron con una duración de la epilepsia menor de 2 años y en los que se pudo realizar una resección completa del área epileptógena presentaron un mejor pronóstico. INTRODUCCIÓNLa prevalencia mundial de la epilepsia se ubica en 7/1000 habitantes, con una tasa de incidencia entre 20 y 70 por 100 000 nuevos casos por año. La prevalencia en países en desarrollo se ha calculado entre 15 y 20 por 1000 habitantes, comparada con los países desarrollados, donde es de 4-7 por 1000 habitantes.En la población pediátrica de menores de 15 años, la incidencia reportada es de 89 por 100 000 habitantes; de ellos, entre el 18% y el 54% presentan la primera crisis antes de los 10 años de vida.A pesar de los avances en el tratamiento médico de la epilepsia, se estima que entre el 20% y el 30% de los pacientes presentan epilepsias farmacorresistentes (EFR). 1En los últimos años, la seguridad y eficacia de la cirugía de la epilepsia en el tratamiento de niños con epilepsia médicamente intratable ha sido bien establecida. Sin embargo, las publicaciones que incluyen pacientes pediátricos en Argentina son escasas, debido al limitado número de centros que pueden ofrecer dicha alternativa terapéutica en nuestro medio.En 2003, se publicaron las primeras guías de práctica de resecciones neocorticales en pacientes con epilepsia refractaria.2 Su objetivo era promover y monitorear el aumento en el número e indicación precoz de las cirugías.En contraste a los grandes avances vistos en países desarrollados, en los países en desarrollo, estos han sido muy heterogéneos. La primera limitación es la dificultad para acceder a estudios de evaluación prequirúrgica. 3La selección de los pacientes con epilepsia refractaria candidatos a tratamiento quirúrgico requiere de un manejo interdisciplinario, el cual debería incluir un neurólogo epileptólogo, neuropsicólogo, neurofisiólogo, neurorradiólogo y un neurocirujano.Los pacientes deben ser sometidos a una exhaustiva evaluación diagnóstica con el fin de precisar el origen y las vías de propagación de la actividad eléctri...
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