Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Eur J Paediatr Neurol ; 20(1): 147-51, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26387070

RESUMO

OBJECTIVE: Mutations in the CDKL5 gene cause an early-onset epileptic encephalopathy. To date, little is known about effective antiepileptic treatment in this disorder. METHOD: Accordingly, the aim of this retrospective study was to explore the role of different antiepileptic drugs (AEDs) and the ketogenic diet (KD) in the treatment of this rare genetic disorder. We evaluated the efficacy in 39 patients with CDKL5 mutations at 3, 6 and 12 months after the introduction of each treatment. One patient was lost to follow-up after 6 and 12 months. RESULTS: The responder rate (>50% reduction in seizure frequency) to at least one AED or KD was 69% (27/39) after 3 months, 45% (17/38) after 6 months and 24% (9/38) after 12 months. The highest rate of seizure reduction after 3 months was reported for FBM (3/3), VGB (8/25), CLB (4/17), VPA (7/34), steroids (5/26), LTG (5/23) and ZNS (2/11). Twelve patients (31%) experienced a seizure aggravation to at least one AED. Most patients showed some but only initial response to various AEDs with different modes of actions. SIGNIFICANCE: Considering both age-related and spontaneous fluctuation in seizure frequency and the unknown impact of many AEDs or KD on cognition, our data may help defining realistic treatment goals and avoiding overtreatment in patients with CDKL5 mutations. There is a strong need to develop new treatment strategies for patients with this rare mutation.


Assuntos
Anticonvulsivantes/uso terapêutico , Dieta Cetogênica , Epilepsia/dietoterapia , Epilepsia/tratamento farmacológico , Adulto , Epilepsia/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Proteínas Serina-Treonina Quinases/genética , Estudos Retrospectivos , Convulsões/prevenção & controle , Resultado do Tratamento , Adulto Jovem
2.
Pediatr Radiol ; 42(8): 932-40, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22639057

RESUMO

BACKGROUND: Aicardi-Goutières syndrome (AGS) is a severe familial, mostly autosomal recessive encephalopathy, first described in 1984. The clinical picture and genetic abnormalities are heterogeneous. US findings in AGS have thus far not been systematically described. OBJECTIVE: The purpose of this study was to analyse sonographic features in AGS and to compare them to CT/MRI. MATERIALS AND METHODS: Four male infants with AGS, two brothers, underwent imaging between the ages of 4 weeks and 6 months. RESULTS: Sonographically isolated mineralization of lenticulostriate vessels, dilatation of the lateral ventricles, subependymal cysts, and diffuse and focal hyperechogenicity of the periventricular white matter and basal ganglia, respectively, were the abnormal findings, that may be present even before the development of major neurological symptoms. CONCLUSION: Early cranial US is able to visualize the whole spectrum of cerebral anomalies in AGS: calcifying microangiopathy, white matter disease and unusual subependymal cysts. The imaging pattern is similar to that of congenital viral infection of the central nervous system, which may mislead the genetic counseling.


Assuntos
Doenças Autoimunes do Sistema Nervoso/diagnóstico por imagem , Malformações do Sistema Nervoso/diagnóstico por imagem , Doenças Autoimunes do Sistema Nervoso/genética , Consanguinidade , Diagnóstico Diferencial , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Malformações do Sistema Nervoso/genética , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Ultrassonografia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...