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Several potential risk factors have been identified in the etiopathogenesis of febrile seizures (FS), including the type and extent of breastfeeding (BF). Given the lack of conclusive data, this study aims to systematically evaluate the evidence on the association between BF and FS. We conducted a systematic review and meta-analysis according to PRISMA guidelines. The search was conducted using descriptors for FS, BF, and formula feeding in MEDLINE, Embase, and Web of Science databases. We included observational studies that compared the incidence of FS between those who had ever breastfed and those who were formula fed. The study protocol was registered on the PROSPERO platform under the number CRD42023474906. A total of 1,893,079 participants from 8 datasets were included. Our main analysis showed no significant association of any type of BF on the incidence of FS compared with formula-fed children (OR: 0.84; CI: 0.67-1.04; I2 = 78%; Cochran's Q = 0.0001), although meta-regression showed that BF was associated with a lower incidence of FS in preterm infants. Our secondary outcome showed a significantly reduced incidence of FS in children who received BF exclusively (OR: 0.80; CI: 0.65-0.99; I2 = 70%; Cochran's Q = 0.02). Conclusion: There was no significant reduction in the incidence of FS in those who were breastfed compared to formula feeding. However, our meta-regression analysis indicated an association between BF and a lower incidence of FS in preterm infants. Additionally, children who exclusively received BF had a significantly reduced incidence of FS. These findings should be further investigated in prospective cohorts. What is Known: ⢠Breastfeeding can modify risk factors for febrile seizures, such as susceptibility to viral and bacterial infections, micronutrient deficiencies, and low birth weight. ⢠However, studies have shown conflicting results regarding the impact of breastfeeding on febrile seizures. What is New: ⢠When comparing any breastfeeding pattern with no breastfeeding, there is no significant difference in the incidence of febrile seizures. ⢠When comparing exclusive breastfeeding with no breastfeeding, there may be a decrease in the occurrence of febrile seizures.
Assuntos
Aleitamento Materno , Convulsões Febris , Humanos , Aleitamento Materno/estatística & dados numéricos , Convulsões Febris/epidemiologia , Convulsões Febris/prevenção & controle , Convulsões Febris/etiologia , Lactente , Recém-Nascido , Incidência , Fatores de Risco , Fórmulas Infantis , Recém-Nascido Prematuro , Fatores de ProteçãoRESUMO
ABSTRACT Objective: To examine the neutrophil-lymphocyte ratio, red cell distribution width and mean platelet volume in patients with febrile seizure and to determine their role in febrile seizure classification. Methods: This was a retrospective hospital-based study conducted among patients aged 5 to 72 months admitted with febrile seizure. Children who had febrile seizures due to upper respiratory tract infection were included in the study. The children were divided into two groups: simple febrile seizures and complex febrile seizures. Patients with a history of febrile status epilepticus, previous convulsions, use of antiepileptic or other chronic drugs, foci of infection other than the upper respiratory tract infection, abnormal biochemical parameters, and chronic mental or physical disease were excluded from the study. Clinical and laboratory findings of the patients were obtained from digital medical records. Results: The records of 112 febrile seizure patients were reviewed, and 89 were grouped as simple and 23 as complex febrile seizures. Although there was no statistically significant difference between the two groups in terms of the mean red cell distribution width values (p=0.703), neutrophil-lymphocyte ratio and mean platelet volume were significantly higher in patients with complex febrile seizures (p=0.034, p=0.037; respectively). Conclusions: This study showed that neutrophil-lymphocyte ratio and mean platelet volume could be practical and inexpensive clinical markers for febrile seizure classification. A similar result could not be reached for red cell distribution width in this study. These findings should be supported by multicenter studies with large samples.
RESUMO Objetivo: Examinar a relação linfócitos-neutrófilos, amplitude de distribuição de hemácias e volume médio de plaquetas em pacientes com convulsão febril, e determinar seu papel na classificação de convulsão febril. Métodos: Este foi um estudo retrospectivo de base hospitalar realizado com pacientes de 5 a 72 meses admitidos com convulsão febril. Crianças que tiveram convulsões febris em razão de infecção do trato respiratório superior foram incluídas no estudo. As crianças foram divididas em dois grupos: convulsões febris simples e complexas. Pacientes com história de Status epiléptico febril, convulsões prévias, uso de drogas antiepilépticas ou outras drogas crônicas, com focos de infecção que não a do trato respiratório superior, parâmetros bioquímicos anormais e doenças crônicas mentais ou físicas foram excluídos do estudo. Os achados clínicos e laboratoriais dos pacientes foram obtidos a partir dos prontuários médicos digitais. Resultados: Registros de 112 pacientes com convulsão febril foram revisados: 89 com convulsões febris simples e 23 com complexas. Embora não tenha havido diferença estatisticamente significativa entre os dois grupos em termos de valor médio de amplitude de distribuição de hemácias (p=0,703), a relação linfócitos-neutrófilos e o volume médio de plaquetas foram significativamente mais elevados em pacientes com convulsões febris simples (p=0,034, p=0,037; respectivamente). Conclusões: Este estudo mostrou que a relação linfócitos-neutrófilos e o volume médio de plaquetas podem ser marcadores clínicos práticos e de baixo custo para a classificação de convulsão febril. Um resultado semelhante não pôde ser alcançado para a amplitude de distribuição de hemácias neste estudo. Esses achados devem ser apoiados por estudos multicêntricos com grandes amostras.
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Neurodegeneration with brain iron accumulation (NBIA) is a complex group of hereditary progressive neurodegenerative diseases characterized by deposition of iron in the basal ganglia. Twelve genetic forms of this disorder have been identified in previous studies. Though they have different inheritance mechanisms all are usually associated with abnormal brain MRI findings. One of NBIA types is an X-linked disorder known as Beta-propeller Protein Associated Neurodegeneration (BPAN). Herein we describe the case of a 4-year-old girl with 2 episodes of febrile seizures, a brain MRI showing nonspecific hyperintense signal in the dentate nucleus area, and delays in language and communication development. Her diagnosis was made based on a genetic evaluation where exome sequencing revealed a mutation in the position chrX:48.933.022 region of the WDR45 gene. The literature describes different clinical presentations for BPAN, each with a different prognosis, suggesting a wide range of possible symptoms of BPAN, including mild cognitive delay and even epileptic encephalopathy (EE). (AU)
Assuntos
Humanos , Feminino , Pré-Escolar , Distrofias Neuroaxonais/diagnóstico , Distúrbios do Metabolismo do Ferro/diagnóstico , Convulsões Febris , Transtornos do Desenvolvimento da Linguagem , Proteínas de Transporte/genética , Distrofias Neuroaxonais/genética , Distúrbios do Metabolismo do Ferro/genéticaRESUMO
BACKGROUND: KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, post-natal short stature, and developmental delays, sometimes associated with seizures and EEG abnormalities. So far, there have been over 100 cases of KBG syndrome reported. CASE PRESENTATION: Here, we describe two sisters of a non-consanguineous family, both presenting generalized epilepsy with febrile seizures (GEFS+), and one with a more complex phenotype associated with mild intellectual disability, skeletal and dental anomalies. Whole exome sequencing (WES) analysis in all the family members revealed a heterozygous SCN9A mutation, p.(Lys655Arg), shared among the father and the two probands, and a novel de novo loss of function mutation in the ANKRD11 gene, p.(Tyr1715*), in the proband with the more complex phenotype. The reassessment of the phenotypic features confirmed that the patient fulfilled the proposed diagnostic criteria for KBG syndrome, although complicated by early-onset isolated febrile seizures. EEG abnormalities with or without seizures have been reported previously in some KBG cases. The shared variant, occurring in SCN9A, has been previously found in several individuals with GEFS+ and Dravet syndrome. CONCLUSIONS: This report describe a novel de novo variant in ANKRD11 causing a mild phenotype of KGB syndrome and further supports the association of monogenic pattern of SCN9A mutations with GEFS+. Our data expand the allelic spectrum of ANKRD11 mutations, providing the first Brazilian case of KBG syndrome. Furthermore, this study offers an example of how WES has been instrumental allowing us to better dissect the clinical phenotype under study, which is a multilocus variation aggregating in one proband, rather than a phenotypic expansion associated with a single genomic locus, underscoring the role of multiple rare variants at different loci in the etiology of clinical phenotypes making problematic the diagnostic path. The successful identification of the causal variant in a gene may not be sufficient, making it necessary to identify other variants that fully explain the clinical picture. The prevalence of blended phenotypes from multiple monogenic disorders is currently unknown and will require a systematic re-analysis of large WES datasets for proper diagnosis in daily practice.
Assuntos
Anormalidades Múltiplas/genética , Doenças do Desenvolvimento Ósseo/genética , Epilepsia Generalizada/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Deficiência Intelectual/genética , Mutação , Fenótipo , Proteínas Repressoras/genética , Convulsões Febris/genética , Anormalidades Dentárias/genética , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/etiologia , Anormalidades Múltiplas/fisiopatologia , Adolescente , Alelos , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/etiologia , Doenças do Desenvolvimento Ósseo/fisiopatologia , Brasil , Eletroencefalografia , Epilepsia Generalizada/fisiopatologia , Fácies , Feminino , Loci Gênicos , Heterozigoto , Humanos , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/etiologia , Deficiência Intelectual/fisiopatologia , Canal de Sódio Disparado por Voltagem NAV1.7/genética , Linhagem , Convulsões Febris/fisiopatologia , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/etiologia , Anormalidades Dentárias/fisiopatologia , Sequenciamento do ExomaRESUMO
Las crisis febriles ocurren entre el 2-5 % de niños, entre 3 meses y 6 años y puede guardar relación con síndromes epilépticos afines. Se realizó una revisión bibliográfica sobre el tema en la base de datos Medline y se complementó con información en las bases de datos de organizaciones, de las sociedades de neurología y de guías de práctica clínica, entre otras. El objetivo de este trabajo es presentar un cuerpo de recomendaciones según grado de evidencia, útiles para reforzar y dar respuesta a algunas interrogantes y situaciones clínicas que se les presentan a los pediatras, neuropediatras y neurólogos cuando se enfrentan a niños con crisis febriles. Las recomendaciones se presentan estructuradas en base a preguntas y respuestas. Se propone un algoritmo a seguir en el servicio de urgencia y orientaciones para la familia. Se establecen criterios para la definición de las crisis en simples, complejas y recurrentes, cuáles son los factores de riesgo de recurrencia y para desarrollar epilepsia. Se abordan otros aspectos como cuáles serían los principales diagnósticos diferenciales a considerar, cómo abordar el diagnóstico, qué utilidad tendrían los exámenes complementarios y cuándo se indican, cuál sería el manejo en urgencia, criterios de internación y cuándo prescribir tratamiento profiláctico intermitente o continuo. Los profesionales que enfrentan las crisis febriles deben estar capacitados para reconocerlas y ser óptimos en su atención inicial, seguimiento y tratamiento en los servicios de urgencia, hospitalarios o consultas externas pediátricas.
Febrile seizures occur in the 2 to 5% of children, from 3 months to 6 years, and can be related to similar epileptic syndromes. The objective of this paper is to present a body of recommendations according to the degree of evidence that are useful to reinforce and answer some questions and clinical situations that are presented to pediatricians, neuropediatricians and neurologists when faced to children with febrile seizures. A bibliographic review on the subject was carried out in Medline database and it was supplemented with information of the databases of organizations, neurology societies and clinical practice guidelines, among others. The recommendations are structured based on questions and answers. An algorithm to be followed in the emergency service and orientations for the family is proposed. Criteria are established for the definition of crises in simple, complex and recurrent, which are the risk factors of recurrence and to develop epilepsy, what would be the main differential diagnoses to consider, how to approach the diagnosis, what would be the usefulness of the complementary tests and when to be indicated; what would be the management in emergency; criteria of hospitalization and when to prescribe intermittent or continuous prophylactic treatment. The professionals who attended febrile seizures must be able to recognize them and be optimal in their initial care, follow-up and treatment in the emergency, hospital or pediatric outpatient services.
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We describe the case of a 17-year-old male patient living in Salta city who, 10 days after visiting a rural area in Salta province, was hospitalized for febrile seizures. Shortly after admission, he developed an exanthema followed by a multiple organ dysfunction that evolved to irreversible septic shock followed by death 48 hours after admission. Serological diagnosis -high IgM and IgG anti-Rickettsia spp. antibody titres as detected by indirect immunofluorescence- arrived post mortem. Spotted fever group rickettsioses are tick-borne diseases distributed worldwide and continue being under diagnosed in several countries mainly due to a low clinical suspicion. In the north-western provinces of Argentina there is also the limitation of not counting with a regional laboratory to perform the etiological diagnosis. This is crucial because the severe forms of the disease, which are commonly caused by R. rickettsii, have been already documented in the region. Given that spotted fevers have broadly unspecific febrile presentations and the components of the enzootic cycle are present even in geographic areas not yet considered to be endemic for tick borne diseases, their diagnosis should not be underestimated. If the adequate antibiotic treatment is administered timely, the prognosis of this group of life-threatening diseases improves drastically.
Assuntos
Rickettsia rickettsii , Rickettsiose do Grupo da Febre Maculosa/patologia , Adolescente , Argentina , Evolução Fatal , Humanos , Masculino , Rickettsiose do Grupo da Febre Maculosa/complicações , Rickettsiose do Grupo da Febre Maculosa/diagnósticoRESUMO
Describimos el caso de un varón de 17 años oriundo de la ciudad de Salta quien, 10 días después de visitar una zona rural de la provincia homónima, ingresó a nuestro hospital por convulsiones febriles. Durante la internación presentó exantema seguido de disfunción orgánica múltiple, la que evolucionó rápidamente hacia shock séptico irreversible y muerte a las 48 horas de su admisión. El diagnóstico serológico -altos títulos de IgM e IgG anti-Rickettsia spp. por inmunofluorescencia indirecta- arribó post mortem. Las rickettsiosis del grupo de las fiebres manchadas son transmitidas por garrapatas, tienen distribución global y en varios países continúan siendo subdiagnosticadas debido a una baja sospecha clínica. En las provincias del noroeste argentino se agrega la carencia de un laboratorio regional capacitado para efectuar el diagnóstico etiológico. Esta limitación es crítica porque en esa región del país ya ha sido documentada la presencia de las formas graves de la enfermedad, usualmente debidas a R. rickettsii. Dado que las fiebres manchadas se presentan como sindromes febriles inespecíficos y los componentes del ciclo enzoótico están presentes en vastas áreas geográficas, incluso en algunas aún no consideradas endémicas para rickettsiosis, su diagnóstico nunca debe ser subestimado. Con el tratamiento antibiótico adecuado instaurado en tiempo oportuno, el pronóstico de este grupo de enfermedades potencialmente mortales mejora en forma drástica.
We describe the case of a 17-year-old male patient living in Salta city who, 10 days after visiting a rural area in Salta province, was hospitalized for febrile seizures. Shortly after admission, he developed an exanthema followed by a multiple organ dysfunction that evolved to irreversible septic shock followed by death 48 hours after admission. Serological diagnosis -high IgM and IgG anti-Rickettsia spp. antibody titres as detected by indirect immunofluorescence- arrived post mortem. Spotted fever group rickettsioses are tick-borne diseases distributed worldwide and continue being under diagnosed in several countries mainly due to a low clinical suspicion. In the north-western provinces of Argentina there is also the limitation of not counting with a regional laboratory to perform the etiological diagnosis. This is crucial because the severe forms of the disease, which are commonly caused by R. rickettsii, have been already documented in the region. Given that spotted fevers have broadly unspecific febrile presentations and the components of the enzootic cycle are present even in geographic areas not yet considered to be endemic for tick borne diseases, their diagnosis should not be underestimated. If the adequate antibiotic treatment is administered timely, the prognosis of this group of life-threatening diseases improves drastically.
Assuntos
Humanos , Masculino , Adolescente , Rickettsia rickettsii , Rickettsiose do Grupo da Febre Maculosa/patologia , Argentina , Evolução Fatal , Rickettsiose do Grupo da Febre Maculosa/complicações , Rickettsiose do Grupo da Febre Maculosa/diagnósticoRESUMO
A febrile seizure occurs in association with fever in a child aged 6 to 60 months, without central nervous system infection or other known cause of acute seizures in a child without a prior history of afebrile seizures. Febrile seizures occur in about 2-5% of children. Central nervous system infections should be considered in patients with febrile seizures, even though the frequency of this possibility is low, especially when patients do not return to baseline. Simple febrile seizures are considered benign events and there are clear guidelines about evaluation and management, but the evaluation of complex febrile seizures is controversial. They are associated with a small increased risk of epilepsy which cannot be prevented. The role of electroencephalography is controversial. We analyzed the data of many studies and concluded that epileptiform discharges have poor positive predictive value. Neuroimaging is recommended to look for acute or pre-existing hippocampal abnormalities following febrile status or focal febrile seizures that could be associated to the risk of developing mesial temporal sclerosis and temporal lobe epilepsy. The relationship between these disorders and febrile seizures remains a controversial issue. An abnormal electroencephalography or magnetic resonance imaging studies will not change the clinical management and could contribute to overdiagnosis.
Assuntos
Convulsões Febris/diagnóstico , Pré-Escolar , Diagnóstico Diferencial , Eletroencefalografia , Epilepsia do Lobo Temporal/diagnóstico , Epilepsia do Lobo Temporal/etiologia , Humanos , Lactente , Imageamento por Ressonância Magnética , Prognóstico , Fatores de Risco , Convulsões Febris/tratamento farmacológicoRESUMO
Las crisis febriles están asociadas a fiebre en niños entre 6 y 60 meses de edad, sin infección del sistema nervioso central u otras causas de crisis sintomáticas agudas y sin historia de crisis afebriles previas. Ocurren en aproximadamente el 2-5% de los niños. Se debe considerar la posibilidad de una infección del sistema nervioso, a pesar de que la frecuencia es extremadamente baja cuando el examen físico posterior a la crisis no es orientador. Mientras que el manejo clínico de los niños con crisis febriles simples está bien definido, considerándolas como eventos benignos auto-limitados, la conducta en los niños con crisis febriles complejas es controvertida. Se asocian con un aumento relativamente pequeño del riesgo de epilepsia, el cual no puede ser prevenido mediante ninguna forma de tratamiento. El rol del electroencefalograma también es controvertido. Analizamos los datos de varios estudios y concluimos que las descargas epileptiformes tienen valores predictivos positivos bajos e implican pequeñas variaciones entre la probabilidad pre y post-prueba para el desarrollo de epilepsia posterior. Se ha propuesto realizar resonancias magnéticas encefálicas para detectar cambios a nivel hipocampal previos, agudos o posteriores a crisis focales o estatus febriles que pudieran relacionarse con el riesgo de esclerosis mesial temporal y de epilepsia temporal. La relación etiológica entre estas entidades continúa siendo un tema controvertido. En cualquier caso, los estudios alterados no van a cambiar el manejo clínico de las crisis febriles y pueden contribuir al sobre-diagnóstico.
A febrile seizure occurs in association with fever in a child aged 6 to 60 months, without central nervous system infection or other known cause of acute seizures in a child without a prior history of afebrile seizures. Febrile seizures occur in about 2-5% of children. Central nervous system infections should be considered in patients with febrile seizures, even though the frequency of this possibility is low, especially when patients do not return to baseline. Simple febrile seizures are considered benign events and there are clear guidelines about evaluation and management, but the evaluation of complex febrile seizures is controversial. They are associated with a small increased risk of epilepsy which cannot be prevented. The role of electroencephalography is controversial. We analyzed the data of many studies and concluded that epileptiform discharges have poor positive predictive value. Neuroimaging is recommended to look for acute or pre-existing hippocampal abnormalities following febrile status or focal febrile seizures that could be associated to the risk of developing mesial temporal sclerosis and temporal lobe epilepsy. The relationship between these disorders and febrile seizures remains a controversial issue. An abnormal electroencephalography or magnetic resonance imaging studies will not change the clinical management and could contribute to overdiagnosis.
Assuntos
Humanos , Lactente , Pré-Escolar , Convulsões Febris/diagnóstico , Prognóstico , Imageamento por Ressonância Magnética , Fatores de Risco , Convulsões Febris/tratamento farmacológico , Diagnóstico Diferencial , Eletroencefalografia , Epilepsia do Lobo Temporal/diagnóstico , Epilepsia do Lobo Temporal/etiologiaRESUMO
Complex febrile seizures during infancy constitute an important risk factor for development of epilepsy. However, little is known about the alterations induced by febrile seizures that make the brain susceptible to epileptic activity. In this context, the use of animal models of hyperthermic seizures (HS) could allow the temporal analysis of brain molecular changes that arise after febrile seizures. Here, we investigated temporal changes in hippocampal gene coexpression networks during the development of rats submitted to HS. Total RNA samples were obtained from the ventral hippocampal CA3 region at four time points after HS at postnatal day (P) 11 and later used for gene expression profiling. Temporal endpoints were selected for investigating the acute (P12), latent (P30 and P60) and chronic (P120) stages of the HS model. A weighted gene coexpression network analysis was used to characterize modules of coexpressed genes, as these modules might contain genes with similar functions. The transcriptome analysis pipeline consisted of building gene coexpression networks, identifying network modules and hubs, performing gene-trait correlations and examining changes in module connectivity. Modules were functionally enriched to identify functions associated with HS. Our data showed that HS induce changes in developmental, cell adhesion and immune pathways, such as Wnt, Hippo, Notch, Jak-Stat and Mapk. Interestingly, modules involved in cell adhesion, neuronal differentiation and synaptic transmission were activated as early as 1â day after HS. These results suggest that HS trigger transcriptional alterations that could lead to persistent neurogenesis, tissue remodeling and inflammation in the CA3 hippocampus, making the brain prone to epileptic activity.
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Região CA3 Hipocampal/metabolismo , Redes Reguladoras de Genes , Convulsões Febris/genética , Animais , Modelos Animais de Doenças , Perfilação da Expressão Gênica , Hipertermia Induzida , Ratos Wistar , Fatores de TempoRESUMO
Introduction: Dravet syndrome (DS) is one of the most intractable forms of epilepsy that begins in infancy. This syndrome is characterized by beginning with complex febrile seizures (FS) in a healthy infant and progresses to refractory epilepsy with psychomotor regression. The detection of a SCN1A mutation encoding the sodium channel can confirm the diagnosis. Objective: To report 3 confirmed cases of genetically DS. Case reports: We describe 3 girls diagnosed with complex FS that started when they were between 2 and 7 months old. FS were frequent, hemi generalized and myoclonic associated with recurrent febrile status epilepticus (SE). Despite FS and SE recurrence, the psychomotor development, electrophysiological studies and magnetic resonance imaging (MRI) of the brain were normal. After a year, they developed afebrile seizures progressing to refractory epilepsy with developmental regression. A molecular study detected SCN1A mutation confirming DS. The specific antiepileptic treatment and prevention of febrile episodes allowed partial control of epilepsy with some recovery of psychomotor skills. Conclusions: The high frequency complex FS associated with recurrent SE in a previously healthy infant should alert about the possibility of DS. Molecular diagnostics helps us to establish a drugs and non-drug therapies treatment, as well as long-term prognosis and genetic counseling.
Introducción: El Síndrome de Dravet (SD) es una de las formas más intratables de epilepsia que debuta en lactantes con convulsiones febriles (CF) complejas recurrentes que evolucionan posteriormente a epilepsia refractaria con regresión psicomotora. La detección de una mutación del canal de Sodio (SCN1A) permite certificar el diagnóstico. Objetivo: Reportar 3 casos de SD confirmados genéticamente. Casos clínicos: Se describen 3 niñas con diagnóstico de CF complejas iniciadas entre los 2 y 7 meses de edad. Las CF eran frecuentes, hemigeneralizadas, mioclónicas asociadas a status epilepticus (SE) febriles recurrentes. A pesar de la recurrencia de CF y SE, tanto el desarrollo psicomotor como los estudios electrofisiológicos y la resonancia magnética (RM) cerebral, fueron normales. Posterior al año iniciaron crisis afebriles que evolucionaron a epilepsia refractaria con regresión del desarrollo. El estudio molecular detectó la mutación SCN1A confirmando SD. El tratamiento antiepiléptico específico y la prevención de cuadros febriles permitieron un control parcial de la epilepsia con recuperación de algunas habilidades psicomotoras. Conclusiones: La alta frecuencia de CF complejas asociadas a SE recurrentes en un lactante previamente sano, debe alertar sobre la posibilidad de un SD. El diagnóstico molecular nos permite instaurar un tratamiento antiepiléptico y terapias no farmacológicas además de un pronóstico a largo plazo y consejería genética.
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Criança , Pré-Escolar , Feminino , Humanos , Lactente , Anticonvulsivantes/uso terapêutico , Epilepsias Mioclônicas/diagnóstico , Canal de Sódio Disparado por Voltagem NAV1.1/genética , Convulsões Febris/diagnóstico , Epilepsias Mioclônicas/tratamento farmacológico , Epilepsias Mioclônicas/genética , Imageamento por Ressonância Magnética , Mutação , Estado Epiléptico/diagnósticoRESUMO
Las mutaciones del Gen SCN1A están asociadas a varios síndromes epilépticos con presentaciones clínicas superpuestas y de variable severidad a saber: Epilepsia Severa Mioclonica de la Infancia o Síndrome de Dravet,Epilepsia Generalizada con Convulsiones Febriles Plus, formas más leves de Sindrome de Dravet, la Epilepsia Intratable con Convulsiones Generalizadas Tonico-Clonicas y raros casos de Migraña familiar. Todas estas formas clínicas representan el 90% de los casos de mutación del gen SCN1A; recientemente se han incluido la Epilepsia Focal y Generalizada Criptogenética, la MioclónicaAstática, formas del Síndrome de Lennox-Gastaut y la forma severa de Epilepsia Multifocal Infantil (Epilepsia Migratoria o Multifocal Severa de la Infancia). El objetivo de la presentación de estos tres casos de Epilepsia Refractaria Precoz es enfatizar los Fenotipos variables en la evolución de la semiología convulsiva, y del compromiso cognitivo, asociado a genotipos variables (compromiso de alelos diferentes en el mismo Gen). Se debe sospechar compromiso del Gen SCN1A en toda Encefalopatía Epiléptica con convulsiones febriles de comienzo en el 1er año de vida repetidas, en muchas ocasiones, prolongadas o en ramilletes, refractarias al tratamiento médico, con neuroimagenes y EEG normales en el inicio del trastorno convulsivo aunque la regresión psicomotora ocurra años después o las mioclonias estén ausentes y en quienes la vulnerabilidad a la fiebre o a los estados infecciosos leves precipitan convulsiones
Mutations in the SCN1A gene are associated with different epi-lepsy syndromes with overlapping clinical presentations and of variable severity, such as severe myoclonic epilepsy in infancy or Dravet syndrome, generalized epilepsy with febrile seizures plus, milder forms of Dravet syndrome, refractory epilepsy with generalized tonic-clonic seizures, and rare cases of familial migraine. In 90% of all these clinical presentations SCN1A mutations are found. More recently, cryptogenic focal and ge-neralized epilepsy, myoclonicastatic epilepsy, different types of Lennox-Gastaut syndrome, and the severe form of infantile multifocal epilepsy (migrating partial seizures or severe infanti-le multifocal epilepsy) have also been included. The aim of the presentation of these three cases of early refractory epilepsy was to emphasize the variable phenotypes in the evolution of seizure semiology and the cognitive involvement associated with variable genotypes (involvement of different alleles of the same gene). SCN1A-gene involvement should be suspected in the face of all epileptic encephalopathies...
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adulto , Epilepsia Generalizada/complicações , Epilepsia Generalizada/genética , Epilepsia Mioclônica Juvenil/complicações , Epilepsia Mioclônica Juvenil/genética , Epilepsias Mioclônicas/complicações , Epilepsias Mioclônicas/genética , Mutação/genética , Convulsões Febris , Argentina , Diagnóstico Diferencial , Canais de SódioRESUMO
OBJECTIVE: To identify risk factors for developing a first febrile status epilepticus (FSE) among children with a first febrile seizure (FS). STUDY DESIGN: Cases were children with a first FS that was FSE drawn from the Consequences of Prolonged Febrile Seizures in Childhood and Columbia cohorts. Controls were children with a first simple FS and separately, children with a first complex FS that was not FSE. Identical questionnaires were administered to family members of the 3 cohorts. Magnetic resonance imaging protocol and readings were consistent across cohorts, and seizure phenomenology was assessed by the same physicians. Risk factors were analyzed using logistic regression. RESULTS: Compared with children with simple FS, FSE was associated with younger age, lower temperature, longer duration (1-24 hours) of recognized temperature before FS, female sex, structural temporal lobe abnormalities, and first-degree family history of FS. Compared with children with other complex FS, FSE was associated with low temperature and longer duration (1-24 hours) of temperature recognition before FS. Risk factors for complex FS that was not FSE were similar in magnitude to those for FSE but only younger age was significant. CONCLUSIONS: Among children with a first FS, FSE appears to be due to a combination of lower seizure threshold (younger age and lower temperatures) and impaired regulation of seizure duration. Clinicians evaluating FS should be aware of these factors as many episodes of FSE go unnoticed. Further work is needed to develop strategies to prevent FSE.
Assuntos
Convulsões Febris/complicações , Estado Epiléptico/etiologia , Estudos de Casos e Controles , Pré-Escolar , Estudos de Coortes , Saúde da Família , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Razão de Chances , Análise de Regressão , Fatores de Risco , Convulsões Febris/patologia , Estado Epiléptico/patologia , Inquéritos e Questionários , Fatores de TempoRESUMO
Febrile seizures and epilepsy are believed to be linked and some forms of epilepsy are associated with a history of febrile seizures (FS). Linkage analysis to seven known loci for FS and/or genetic epilepsy with febrile seizures plus (GEFS plus) was performed in a small Colombian family. Short tandem repeat (STR) markers were genotyped and two-point linkage analysis and haplotype reconstruction were conducted. A maximum LOD score of 0.75 at marker D8S533 for FEB1 at a recombination fraction (θ) of 0 and a segregating haplotype were identified. FEB1 was the first locus to be associated with FS and this is the second report to describe this association. Two genes in this region, CRH and DEPDC2, are good putative candidate genes that may play a role in FS and/or GEFS plus.
Assuntos
Cromossomos Humanos Par 8/genética , Epilepsia Generalizada/genética , Convulsões Febris/genética , Criança , Pré-Escolar , Colômbia , Feminino , Predisposição Genética para Doença , Haplótipos , Humanos , Lactente , Escore Lod , Masculino , Repetições de Microssatélites/genética , LinhagemRESUMO
Febrile seizures (FS) affect almost 2-5 percent of children and factors related to an increase susceptibility of children to FS may involve an imbalance of inflammatory cytokines and genetic factors. FS had low morbidity, but may be associated with the occurrence of late chronic epilepsy. Here we describe factors related to FS and its possible correlation with SUDEP.
Crises febris (CF) afetam aproximadamente 2-5 por cento das crianças e os fatores envolvidos com essa maior susceptibilidade das crianças às CF podem estar relacionados com uma ação inadequada de citocinas inflamatórias, além de fatores genéticos. As CF têm baixa morbidade, mas podem estar associadas à ocorrência de epilepsia crônica. Nós discutiremos os fatores relacionados com CF, considerando-se sua possível associação com SUDEP.
Assuntos
Criança , Humanos , Morte Súbita/etiologia , Epilepsia/complicações , Convulsões Febris/complicaçõesRESUMO
Es muy frecuente en el ambiente médico y entre los padres de familia el uso y abuso de antipiréticos buscando disminuir abruptamente la temperatura, mejorar los síntomas derivados de la fiebre y contrarrestar las reacciones adversas de la misma. Por otro lado, existen diferentes conceptos acerca de la elección del antipirético más eficaz y seguro en niños y su ruta de administración, así como su utilidad en la prevención de convulsiones febriles, entre otras. Este artículo pretende dar claridad a las controversias en el manejo de la fiebre mediante la revisión de la literatura, incluyendo solo ensayos clínicos, meta análisis, guías de manejo y revisiones de tema, publicadas en las dos últimas décadas. Para tal fin se revisaron las bases de datos Cochrane, PubMed y Medscape.
Assuntos
FebreRESUMO
Intrauterine seizure is a rare event. Genetic predisposition and trauma are possible risk factors. OBJECTIVE: To review and comment on the historical description of intrauterine events of a bastard daughter of Dom Pedro I (Maria Isabel Alcântara Brasileira - 1830-1896). METHOD: Review of historical facts about the health of Dom Pedro I's daughter according to primary and secondary historical data. RESULTS: According to historical accounts, Dom Pedro I's daughter suffered trauma during the intrauterine period that provoked intrauterine seizures. At the age of eight years, she developed self-limited and benign generalized epilepsy. Like her father, she had mood problems and also learning difficulties. CONCLUSION: Dona Maria Isabel's own report does not shown sufficient evidence to support the diagnosis of post-traumatic intrauterine seizures. Nevertheless, her family history suggests a genetic basis for her epilepsy.
A convulsão intra-uterina é evento raro, sendo possíveis fatores de risco a genética e o traumatismo. OBJETIVO: Rever e comentar a descrição histórica de eventos intra-uterinas de uma filha bastarda de D. Pedro I (Maria Isabel Alcântara Brasileira - 1830-1896). MÉTODO: Revisão dos fatos históricos sobre a saúde da filha do D. Pedro I, de acordo com dados históricos primários e secundários. RESULTADOS: A filha de Dom Pedro I, de acordo com relatos históricos teria sofrido um traumatismo durante o período intra-uterino, o que provocou convulsões intra-uterinas. Na idade de oito anos a menina desenvolveu uma epilepsia generalizada limitada e benigna. Como seu pai, teve problemas do humor e, também, dificuldades de aprendizagem. CONCLUSÃO: O relato de Dona Maria Isabel não gera prova suficiente para sustentar o diagnóstico de convulsões intra-uterinas de origem traumática. Não obstante, seus antecedentes familiares sugerem uma base genética para sua epilepsia.
Assuntos
História do Século XIX , Humanos , Epilepsia/história , Brasil , Epilepsia/genética , Doenças Fetais/história , Predisposição Genética para Doença/históriaRESUMO
INTRODUÇÃO: Crise febril (CF) é comum, e ocorre em aproximadamente 2 a 5 por cento das crianças até 5 anos de idade. OBJETIVO E MÉTODOS: Avaliar a relação entre aspectos clínicos e ocorrência de atividade epileptiforme (AE) no eletrencefalograma (EEG) em crianças com CF e, naquelas em que houve seguimento, observar, também, o aparecimento de crises epilépticas não febris (CNF). RESULTADOS: Foram avaliadas 1162 crianças de 4 meses a 5 anos de idade. Houve predomínio de CF simples (82,4 por cento) e de episódio único (62,0 por cento). Houve maior recorrência de CF quando a primeira crise ocorreu antes dos 12 meses de idade ou quando era complexa. AE foi encontrada em porcentagem crescente com a idade da criança; em 3 por cento dos pacientes até os dois anos de idade e 33 por cento após os 4 anos. Pontas evocadas pela percussão de pés ou mãos (PE) ocorreu em 3,4 por cento dos casos. CNF foi relatada em 38 (9,5 por cento) crianças. Não houve correlação estatisticamente significativa entre o tipo e número de CF, idade de ocorrência da primeira CF, presença de AE e de PE no EEG e a ocorrência ou o tipo de CNF, no seguimento. DISCUSSÃO: Há aspectos ainda controversos na literatura, como o prognóstico em relação ao desenvolvimento de epilepsia e o eventual efeito de AE persistente quanto à cognição e comportamento nas crianças que apresentam CF, a exigir pesquisas prospectivas longitudinais.
INTRODUCTION: Febrile seizures (FS) occur in about 2-5 percent of the children from the age of 6 months do 5 years of age. OBJECTIVE: The aim of this study is to analyze clinical and EEG aspects of children with febrile seizures. Methods: We retrospectively studied 1162 children (age range: 4 months to 5 years) with FS. The relationship between clinical and EEG abnormalities was statistically analyzed. RESULTS: In the majority of cases there were simple febrile seizures (82 percent) and unique seizures (62 percent). The recurrence rate of FS was higher for children with the first seizure bellow 12 months of age, and when the FS were complicated. Ninety-five (8.1 percent) children showed focal epileptiform activity (EA) in the first EEG, and 3.4 percent had somatosensory evoked spikes by foot or hand stimulation. There was a increase in percentage of EA with the increase of age (3 percent until 12 months and 33 percent after 48 moths). Afebrile seizures subsequent to the FS occurred in 9,4 percent of the cases. EA, a family history of seizures, and the type of FS were not significant risk factors for subsequent afebrile seizures. DISCUSSION: In order to understand the relationship between FS and the occurrence of epilepsy, and to evaluate possible cognitive and behaviour problems associated to the persistent epileptiform activity there is a need of longitudinal studies.
Assuntos
Humanos , Criança , Síndrome de Landau-Kleffner , Eletroencefalografia/instrumentação , Comportamento Infantil , Cognição , Convulsões FebrisRESUMO
Las crisis epilépticas febriles son un motivo de consulta frecuente en Neurología Infantil; su presentación coincide con el período de mayor prevalencia de deficiencia de hierro en la edad pediátrica. Evaluar la relación entre crisis epilépticas febriles y el estado del hierro. Se realizó un estudio no experimental de casos y controles en pacientes de 6 meses a 5 años de edad, evaluados en los Servicios de Neurología, Triaje, Emergencia, Niños Sanos y Consulta Externa del Hospital de Niños "J.M de Los Ríos" en Caracas, Venezuela, en el lapso comprendido entre enero 2004 y septiembre 2005. Se incluyeron 52 pacientes en cada grupo, a quienes se les determinó el estado del hierro utilizando como indicadores: Hemoglobina, Hematocrito e Índices Hematimétricos y Ferritina. Las variables cualitativas se expresaron en porcentaje y las cuantitativas a través de las medidas de tendencia central y dispersión, se aplicó la prueba de t de Student y la prueba de Wilcoxon, para un nivel del 5 por ciento como significancia estadística. No hubo diferencia estadísticamente significativa entre los valores de Hemoglobina, Hematocrito e Índices Hematimétricos entre los casos y los controles. La ferritina fue más baja en los pacientes con crisis febriles, siendo esta diferencia estadísticamente significativa (p=0,0005). Los pacientes con deficiencia de hierro podrían tener mayor probabilidad de presentar crisis febriles.
Febrile seizures are a very common consultation cause in Pediatric Neurology; their appearance coincides with the period of greater prevalence of iron deficiency in the pediatric age. To evaluate the relationship between febrile seizures and iron status. A non experimental study of cases and controls in patients between 6 months and 5 years from the Services of Pediatric Neurology, Emergency, Healthy Children and External Consultation of the Hospital de Niños J. M de Los Ríos in Caracas, Venezuela was performed from January 2004 to September 2005. Fifty two patients were included in each group. The iron status was determined in all the patients by using as indicators: hemoglobin, hematocrit, hematologic indices and serum ferritin. Qualitative variables were expressed in percentages and the quantitative ones by using their summary measures; Student t-test and Wilcoxon Test were applied, significance of 5% level. There was not a statistically significant difference among the values of hemoglobin, hematocrit and hematologic indices between cases and controls. Ferritin was lower in patients with febrile seizures and this difference was statistically significant (p=0.0005). Patients with iron deficiency could have a greater probability for presenting febrile seizures.
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Deficiências de Ferro/complicações , Deficiências de Ferro/etiologia , Cuidado da Criança , NeurologiaRESUMO
Definición: Las epilepsias parciales benignas de la infancia (EPBI) representan el síndrome epiléptico mas común en niños en edad preescolar y escolar, correspondiendo al 15-24% de las epilepsias, diagnosticadas entre los 3 y 13 años. Remiten espontáneamente al llegar a la adolescencia. Las epilepsias rolándicas constituyen las EPBI de mayor incidencia, su principal característica es ocasionar crisis parciales, con anartria, hemiconvulsiones faciales, en algunos casos con hemigeneralización secundaria. El electroencefalograma interictal evidencia espigas focales centrotemporales. En el 40% de los casos existe historia familiar de convulsiones febriles, epilepsias clínicas, o descargas epilépticas en el electroencefalograma. Además, el 7-10% evidencian antecedentes personales de convulsiones febriles en su primera infancia. Algunos autores sugieren no medicar estos pacientes, sin embargo no existe un consenso al respecto.Objetivos:Determinar si los antecedentes convulsivos familiares o personales representan una influencia en la evolución de la enfermedad y si su presencia es un criterio para iniciar medicación antiepiléptica. Proponer criterios terapéuticos de medicación y de observación.Metodología: Estudio monocéntrico, longitudinal, tipo cohorte histórico, realizado con pacientes de consulta externa del hospital Pediátrico Dr. Roberto Gilbert Elizalde, durante 3 meses (noviembre/2003 Enero/2004). Criterios de inclusión: convulsiones no febriles de inicio entre 3 y 13 años con neurodesarrollo normal, estudios de imágenes normales, examen neurológico normal y trazado electroencefalográfico compatible con EPBI. Se clasificó a los pacientes en dos subgrupos: con y sin antecedentes convulsivos familiares o personales, y se comparó las diferencias clínicas -en cuanto al intervalo interictal- y electroencefalográficas.
Definition: Benign partial epilepsy of infancy represents the most common epileptic syndrome in preschool and school children. It accounts for 15-24% of epilepsies diagnosed between the ages of 3 and 13 years. Rolandic epilepsy is one of BMEI with a high incidence its main characteristic is that it causes partial seizures, anartia, hemiseizures. The electroencephalogram shows centrotemporal spikes. In the 40% of the cases exist family history of febrile seizures, clinical epilepsy or epileptic discharges in the electroencephalogram. Also, 7-10% have a clinical history of febrile seizures in infancy. Some authors suggest to not medicate this patients. Objectives: XDetermine the family and history of seizures that can influence the evolution of the illness and if its presence is a criteria to start antiepileptic medication. Propose therapeutic criteria to medicate and of observation. Method: Monocentric, longitudinal, cohort study with patients that consulted Pediatric hospital of Dr. Roberto Gilbert Elizalde during the period of three months. (November 2003 V January 2004) Criteria to be included in this study: seizures without fever that began between the ages of 3 and 13 years of age with a normal neurodevelopment, normal image study, neurological exam and electroencephalogram that shows BMEI. Patients were classified in two subgroups: with or without family or clinical history of seizures and clinical differences were compared using.Results: Of the 57 patients 52 people were our study group out of which 67% were men and 33% were woman. The average of age was 9.26 years old +/- 2.99. The 63% of the patients had seizures while they were sleeping. Only 48% of the cases showed discharges are the electroencephalographic reading. Important clinical or electroencephalographic differences did not exist between the two groups. (with or with out clinical or family history).