Startle epilepsy is a syndrome of reflex epilepsy in which the seizures are precipitated by a sudden and surprising, usually auditory, stimulus. We describe herein a girl who had been suffering with ...startle-induced seizures since 2 years of age. She had focal, tonic and tonicclonic seizures, refractory to antiepileptic treatment. Daily tonic seizures led to very frequent falls and morbidity. Neurologically, she had no deficit. Interictal EEG showed slow waves and epileptiform discharges in central and fronto-central regions. Video-polygraphic recordings of seizures, triggered by stimuli, showed generalised symmetric tonic posturing with ictal EEG, characterised by an abrupt and diffuse electrodecremental pattern of fast activity, followed by alpha-theta rhythm superimposed by epileptic discharges predominantly over the vertex and anterior regions. Magnetic resonance imaging showed no abnormalities. Corpus callosotomy was performed when the patient was 17. Since surgery, the patient (one year follow-up) has remained seizure-free. Corpus callosotomy may be considered in patients with startle epilepsy and tonic seizures, in the absence of focal lesions amenable to surgery.
Learning disorders (LDs) are diagnosed in children whose academic skills of reading, writing or mathematics are impaired and lagging according to their age, schooling and intelligence. Children with ...LDs experience substantial working memory (WM) deficits, even more pronounced if more than one of the academic skills is affected. We compared the task-related electroencephalogram (EEG) power spectral density of children with LDs (n = 23) with a control group of children with good academic achievement (n = 22), during the performance of a WM task. sLoreta was used to estimate the current distribution at the sources, and 18 brain regions of interest (ROIs) were chosen with an extended version of the eigenvector centrality mapping technique. In this way, we lessened some drawbacks of the traditional EEG at the sensor space by an analysis at the brain-sources level over data-driven selected ROIs. Results: The LD group showed fewer correct responses in the WM task, an overall slower EEG with more delta and theta activity, and less high-frequency gamma activity in posterior areas. We explain these EEG patterns in LD children as indices of an inefficient neural resource management related with a delay in neural maturation.
Introducción: las enfermedades neurológicas en Pediatría son diversas y obedecen a un gran número de causas: infecciosas, genéticas, metabólicas y degenerativas, entre otras. El diagnóstico genético, ...dentro del método clínico en Neurología, está relacionado con el diagnóstico etiológico. Existen muy pocas publicaciones que reflejen la frecuencia de las enfermedades neurogenéticas como grupo etiológico. Objetivo: describir la frecuencia de algunas enfermedades neuropediátricas en la Consulta de Neurogenética del Instituto de Neurología y Neurocirugía. Métodos: se realizó una investigación descriptiva y prospectiva en el periodo 2008-2010. Se clasificó a los pacientes por grupos etarios, y se calculó el porcentaje de frecuencia para la atrofia muscular espinal de la infancia, la distrofia muscular tipo Duchenne/Becker, las lesiones estáticas del sistema nervioso central de causa prenatal genética, y para la clasificación de los grupos según tipo de herencia. Resultados: el universo de estudio estuvo conformado por 161 pacientes, 72,6 % del sexo masculino, para una razón de la variable sexo de 2,5. Los escolares fueron mayoría (37,8 %), y la edad promedio 5 años. La distrofia muscular tipo Duchenne fue la enfermedad más frecuente (24,8 %). El 41,40 % clasificó en la herencia autosómica recesiva. Los resultados coinciden con lo reportado en la literatura. Conclusiones: las enfermedades neuromusculares hereditarias, y las lesiones estáticas del sistema nervioso central de causa prenatal genética, son las más frecuentes de solicitud de asesoramiento genético en un servicio de Neurogenética.
Rasmussen's encephalitis (RE) is a progressive pathology affecting the brain that causes unilateral hemispheric atrophy, neurological dysfunction and refractory epilepsy. Hemispherotomy is considered ...the most effective treatment today, but some cases present certain peculiarities that can seriously affect the decision to go ahead with this procedure.
To evaluate the post-operative progress made by children with RE who have undergone hemispherotomy surgery, and who, in the pre-operative assessment, presented certain characteristics that complicated the decision to perform surgery.
The sample selected for study consisted of the cases of RE attended in the Hospital Sao Paulo between 2003 and 2012 who, in the pre-surgery evaluation, presented clinical, electroencephalographic or neuroimaging evidence of involvement of both brain hemispheres, compromise of the dominant brain hemisphere, absence of severe neurological deficit and absence of criteria for refractory epilepsy and atypical crises. The post-operative assessment of the epileptic seizures was evaluated using the Engel scale; motor function was analysed with the Gross Motor Function Classification System and Manual Ability Classification System scales, and language was evaluated clinically.
Six cases were selected (four girls), with a mean age at clinical onset of 3.3 ± 1.2 years (range: 2-7 years) and a mean age at hemispherotomy of 6.7 years (range: 2.3-16.5 years). The mean post-surgery follow-up time was three years (range: 0.5-7.2 years). In the post-surgery evaluation of the epileptic seizures, four cases were classified as Engel class I (66%); there was some improvement in motor functioning in five of them, and language improved in all cases.
Hemispherotomy must be considered an efficient option for treatment in children with RE.
•A multipronged teleneurology based approach for management of infantile spasms is needed.•R Reduction of treatment lag and early initiation of standard therapy are crucial.•Efforts should be made ...for improving sensitivity and specificity of diagnosis.•Constant motivation of parents for monitoring therapeutic response, adverse effects, and infections.
With telehealth services rescuing patients with chronic neurological disorders during the COVID-19 pandemic, there is a need for simplified teleneurology protocols for neurological disorders in children. Infantile spasms is an epileptic encephalopathy where treatment lag is a significant predictor of outcome. It is one such condition where telemedicine can make a remarkable difference when in-person consultations are delayed or are not possible. However, the adverse effect profile of the first-line therapeutic options, the need for frequent follow-up, underdeveloped telemedicine services, lack of a rational protocol, poor awareness about infantile spasms, a lesser level of parental understanding, and scarcity of pediatric neurologists are the major hurdles in developing countries. This paper provides a teleneurology based approach for the management of infantile spasms in developing countries during the COVID-19 pandemic. The cornerstones of this approach include the fundamental principles of management of infantile spasms, decentralization of patient care to local health providers, efforts for improving sensitivity and specificity of diagnosis, early initiation of first-line therapeutic options, and constant motivation of parents and local health providers to be vigilant for therapeutic response, adverse effects of therapy, and infections.
Síndrome opercular o síndrome perisilviano Vargas Díaz, José; Garófalo Gómez, Nicolás; Nova López, Lucía Margarita ...
Revista cubana de pediatria,
09/2011, Letnik:
83, Številka:
3
Journal Article
Recenzirano
Odprti dostop
El interés de los autores es llamar la atención sobre el síndrome opercular, y estimular con ello su identificación en la práctica neuropediátrica. Se realizó una búsqueda en PubMed desde febrero de ...2005 hasta septiembre de 2010, y se comentaron los artículos que, a consideración de los autores, mostraban los diferentes aspectos del concepto, historia, características clínicas, causas, así como del diagnóstico, evolución y pronóstico. El síndrome opercular puede ser de causa congénita o adquirida; en los adultos es más frecuente por infarto cerebral opercular bilateral, no así en los niños, en los que se puede presentar por diferentes causas, desde trastornos de la migración neuroblástica, hasta en la epilepsia. En niños epilépticos se debe estar atento a su evolución, ya que tanto por el tipo de epilepsia o síndrome epiléptico, como por la medicación antiepiléptica usada, puede presentarse este síndrome, teniendo una gran significación su identificación rápida y tratamiento adecuado.
Atrofia muscular espinal en el niño Garófalo Gómez, Nicolás; Zaldívar Vaillant, Tatiana; Vargas Díaz, José ...
Revista cubana de pediatria,
09/2009, Letnik:
81, Številka:
3
Journal Article
Recenzirano
Odprti dostop
INTRODUCCIÓN. Las atrofias musculares espinales en la infancia (AME) son trastornos genéticos autosómicos recesivos, caracterizados por degeneración de las motoneuronas espinales y bulbares. El ...presente estudio tuvo el objetivo principal de describir las principales características clínicas en una serie de niños con AME. MÉTODOS. Se realizó un estudio retrospectivo de los pacientes con AME atendidos en el Instituto de Neurología y Neurocirugía de Cuba, entre enero de 1997 y diciembre de 2001. Se recopilaron los datos de 35 pacientes, 4 de ellos, fetos con confirmación prenatal de AME. Se precisaron las principales características clínicas, electromiográficas, de la biopsia muscular y de los estudios genéticos moleculares realizados en cada caso. RESULTADOS. La AME de tipo II resultó la forma clínica más frecuente (58 %), seguida por la AME de tipo I (42 %). Las principales manifestaciones clínicas resultaron la debilidad muscular generalizada con predominio proximal en extremidades, asociada a hipotonía y arreflexia osteotendinosa. La deleción de los exones 7 y 8 del gen SMN1 se detectó en 20 de 23 casos estudiados (87 %).
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