Ataxia telangiectasia

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Megalencephalic Leukoencephalopathy With Subcortical Cysts (mlc) - A Case With Clinical And Magnetic Resonance Imaging (mri) Dissociation.

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Piora de crises epilépticas durante o período menstrual em mulheres com epilepsia focal sintomática

INTRODUCTION: Hormonal fluctuation is responsible for worsening of epileptic seizures during the menstrual cycle. OBJETIVE: To identify irregularities in the menstrual cycles of women with mesial temporal lobe epilepsy (MTLE) and extratemporal focal epilepsy (ETFE) and correlate the frequency of seizures during the menstrual cycles. METHOD: We evaluated prospectively women in the menacme with MTLE and ETFE. Calendars were provided for these patients, and they were asked to mark their seizure frequency according to the menses. Calendars were reviewed in each routine medical appointment. RESULTS: Thirty-nine patients with MTLE and 14 with ETFE were evaluated. We registered 211 cycles in the patients with MTLE and 49 in those with ETFE. Irregular menstrual cycles were found in 28 (28/39, 71.7%) patients with MTLE and 6 (6/14, 42.8%) with ETFE (p=0.052). Premenstrual seizure worsening was observed in 46 (21.8%) patients with MTLE and 9 (18.3%) with ETFE (p=0.596). Menstrual worsening was observed in 47 (22.2%) patients with MTLE and 15 (30.6%) with ETFE (p=0. 217). Ovulatory worsening was observed in 36 (17%) patients with MTLE and 13 (26.5%) with ETFE (p=0,126). Catamenial worsening was observed in 58 (27.4%) of the patients with MTLE and in 17 (34.7%) of the patients with ETFE (p=0.315). CONCLUSION: There was no difference between the group of patients with MTLE and ETFE regarding the frequency of irregular cycles and seizure worsening during the premenstrual, menstrual, catamenial or ovulatory periods.INTRODUÇÃO: Admite-se que a flutuação hormonal seja a responsável para a piora de crises epilépticas no período catamenial. OBJETIVO: Identificar irregularidades nos ciclos menstruais de mulheres com epilepsia de lobo temporal mesial (ELTM) e epilepsia focal extratemporal (EFET); e relacionar a frequencia de crises durante o ciclo menstrual. MÉTODO: Avaliamos mulheres na menacme, que apresentem quadro clínico laboratorial compatível com ELTM e EFET. Foram fornecidos calendários para estas pacientes e instruídas para preenchimento correto da menstruação e das crises epilépticas e serão revistos em cada consulta médica rotineira. RESULTADOS: Foram avaliadas 39 pacientes com ELTM e 14 com EFET. Registramos 211 ciclos nas pacientes com ELTM e 49 nas com EFET. Ciclos menstruais irregulares foram apresentados por 28 (71,7%) pacientes com ELTM e 14 (42,8%) com EFEP (p=0,052). Piora pré-menstrual foi observada em 46 (21,8%) pacientes com ELTM e 9 (18,3%) com EFET (p=0,596). Piora menstrual foi observada em 47 (22,2%) pacientes com ELTM e 15 (30,6%) com EFET (p=0,217). Piora ovulatória foi observada em 36 (17%) pacientes com ELTM e 13 (26,5%) com EFET (p=0,126). Piora catamenial foi observada em 58 (27,4%) das pacientes com ELTM e em 17 (34,7%) das pacientes com EFET (p=0,315). CONCLUÇÃO: Não houve diferença entre os grupos de pacientes com ELTM e EFET quanto à freqüência de ciclos irregulares e piora das crises nos períodos pré-menstrual, menstrual, catamenial ou ovulatório.75175

Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Recent advances in molecular genetics led to the discovery of several genes for childhood epileptic encephalopathies (CEEs). As the knowledge about the genes associated with this group of disorders develops, it becomes evident that CEEs present a number of specific genetic characteristics, which will influence the use of molecular testing for clinical purposes. Among these, there are the presence of marked genetic heterogeneity and the high frequency of de novo mutations. Therefore, the main objectives of this review paper are to present and discuss current knowledge regarding i) new genetic findings in CEEs, ii) phenotype-genotype correlations in different forms of CEEs; and, most importantly, iii) the impact of these new findings in clinical practice. Accompanying this text we have included a comprehensive table, containing the list of genes currently known to be involved in the etiology of CEEs.Recent advances in molecular genetics led to the discovery of several genes for childhood epileptic encephalopathies (CEEs). As the knowledge about the genes associated with this group of disorders develops, it becomes evident that CEEs present a number o7311946958FAPESP - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULOCNPQ - CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICOFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)sem informaçãosem informaçã

Farmacovigilância em pacientes com epilepsia em uso de drogas antiepilépticas

OBJECTIVE: To investigate the occurrence of adverse effects of antiepileptic drugs (AED) in chronic epileptic patients in mono or polytherapy. METHOD: We evaluated consecutive patients that met the following inclusion criteria: age of 18 years or older, diagnosis of epilepsy for at least one year, stable dose of AED for at least three months. Patients were asked if they had any adverse event related to the AED. After that, they were interviewed according to a detailed semi-structure questionnaire. We also assessed specifically the adverse events in the last four weeks. The data were analyzed regarding the use of monotherapy x polytherapy, and the presence of probable depression (score >15) according to the Center for Epidemiologic Studies Depression Scale. RESULTS: Sixty-five patients were evaluated, 35 women, mean age 38.3 years; 35 patients were in use of monotherapy and 35 in polytherapy. Only 45 (69.2%) patients spontaneously reported adverse effects. After the formal questionnaire, 63 (97%) patients referred experiencing an adverse event (p15) segundo o CES-D. RESULTADOS: Sessenta e cinco pacientes foram avaliados, 35 mulheres, idade média 38,3 anos; 35 pacientes estavam em uso de monoterapia e 35 em politerapia. Somente 45 (69,2%) pacientes espontaneamente registraram a presença de efeitos adversos. Após o questionário formal, 63 (97%) pacientes tiveram queixas (p<0,001). Dezessete homens e 28 mulheres reportaram eventos adversos (p=0,042). Quando as últimas quatro semanas foram analisadas, os pacientes com provável depressão relataram mais freqüentemente a presença de efeitos adversos (p<0,0001). CONCLUSÃO: Nossos dados sugerem que efeitos adversos são altamente prevalentes quando um questionário detalhado é aplicado e que depressão pode agravar o número e a intensidade de eventos adversos em pacientes com epilepsia utilizando DAE.19820

Clinical And Neuropsychological Correlation In Patients With Rolandic Epilepsy.

To evaluate the presence of neurological soft signs (NSS) and to correlate them with the Wechsler Intelligence Scale for Children (WISC III) in patients with rolandic epilepsy (RE). Forty children and adolescents aged between 9 and 15 years were studied. They were divided into two groups: G1 - patients with RE (n=20) - and G2 - healthy controls without epilepsy (n=20). They were assessed with the Quick Neurological Screening Test (QNST II) - clinical trial to search for NSS -, and the WISC III - neuropsychological test. No statistical difference between groups was found in WISC III and QNST II. However, children with poorer motor skills had worse performance in the QNST II and also in the execution intelligence quotient - IQ (p=0.001) and in total IQ (p=0.004), thus showing a positive correlation between them. The QNST II is a good screening tool for the neurologist to detect abnormalities in fine motor skills.70691-

Memory In Children With Symptomatic Temporal Lobe Epilepsy.

In children with temporal lobe epilepsy (TLE), memory deficit is not so well understood as it is in adults. The aim of this study was to identify and describe memory deficits in children with symptomatic TLE, and to verify the influence of epilepsy variables on memory. We evaluated 25 children with TLE diagnosed on clinical, EEG and MRI findings. Twenty-five normal children were compared with the patients. All children underwent a neuropsychological assessment to estimate intellectual level, attention, visual perception, handedness, and memory processes (verbal and visual: short-term memory, learning, and delayed recall). The results allowed us to conclude: besides memory deficits, other neuropsychological disturbances may be found in children with TLE such as attention, even in the absence of overall cognitive deficit; the earlier onset of epilepsy, the worse verbal stimuli storage; mesial lesions correlate with impairment in memory storage stage while neocortical temporal lesions correlate with retrieval deficits.72184-

Characterization of the linguistic profile of a family with Perisylvian Syndrome

BACKGROUND: perisylvian syndrome refers to a variety of clinical manifestations associated to lesions in the perisylvian or opercular regions. Polymicrogyria is the most common structural malformation found. The syndrome may be inherited and the clinical spectrum includes subtle language disturbances on one end and more severe characteristics such as prominent pseudobulbar signs and refractory epilepsy on the other end. Other studies have already associated perisylvian polymicrogyria with developmental language disorders or specific language impairment. AIM: to describe the language deficits of four members of a family with Perisylvian Syndrome, and to correlate these deficits to neuroimaging data METHOD: the patients underwent neuroimaging investigation, psychological assessment using the Weschler Intelligence Scales, and specific speech-language evaluation. The following tests were used for the assessment of vocabulary, phonology, syntax, pragmatics, reading and writing: Thematical Pictures of Yavas, ABFW - Child Language Test, Peabody Picture Vocabulary Test (PPVT), and other specific protocols. RESULTS: magnetic resonance imaging revealed perisylvian polymicrogyria in all of the subjects, with varied locations and extensions. Speech-language assessment indicated significant oral and written language deficits in all of the subjects. CONCLUSION: the obtained data indicate that language impairment can co-exist with reading deficits in members of the same family. Neuroimaging findings reveal cortical alterations that are associated to specific language impairments within the spectrum of the Perisylvian Syndrome. Another important aspect evidenced by this study is the similarities in the language profiles of siblings and mother, suggesting that a variety of linguistic manifestations exist within the spectrum of the syndrome. Perisylvian polymicrogyria can be one of the neurobiological malformations involved in the manifestation of these deficits.TEMA: por Síndrome Perisylviana entende-se toda e qualquer manifestação clínica decorrente de lesão ou malformação que comprometa a região da fissura de Sylvius, sendo a polimicrogiria a alteração estrutural mais encontrada. A referida síndrome pode ser familiar, sendo que o espectro clínico pode variar desde manifestações leves de distúrbio de linguagem, até quadros extensos que cursam com proeminentes sinais pseudobulbares e epilepsia refratária. Estudos já correlacionaram a polimicrogiria perisylviana com a ocorrência do Distúrbio Específico de Linguagem. OBJETIVO: o objetivo desse trabalho foi descrever as alterações de linguagem em quatro membros de uma família com Síndrome Perisylviana, e relacioná-las a exames de neuroimagem. MÉTODO: os sujeitos foram submetidos a exames de ressonância magnética, à avaliação psicológica, por meio das Escalas Wechsler de Inteligência e à avaliação fonoaudiológica específica de linguagem. Para avaliação do vocabulário, fonologia, sintaxe, pragmática, leitura e escrita foram utilizados testes como: as Figuras temáticas do Yavas, o ABFW - Teste de Linguagem Infantil, o Peabody Picture Vocabulary Test (PPVT), além de outros protocolos específicos. RESULTADOS: os exames de ressonância magnética evidenciaram polimicrogiria perisylviana de localização e extensão variáveis em todos os sujeitos. A avaliação fonoaudiológica também demonstrou alterações de linguagem oral e escrita significativas em todos os sujeitos. CONCLUSÃO: os nossos dados mostraram que distúrbios de linguagem podem co-ocorrer com alterações de leitura em membros da mesma família. A constatação de alterações corticais evidencia a presença de distúrbios específicos da linguagem no espectro da síndrome perisylviana. Outro aspecto importante evidenciado nesse estudo é a semelhança do perfil de linguagem entre os irmãos e a mãe, sugerindo que seja possível a existência de uma variedade de manifestações lingüísticas dentro do espectro da referida síndrome, podendo ser a polimicrogiria perisylviana um dos substratos neurobiológicos destes distúrbios.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Unicamp Faculdade de Ciências MédicasUnicamp Departamento de NeurologiaUniversidade Federal de São Paulo (UNIFESP)Unicamp FCM Departamento de Genética MédicaUniversidade de São Paulo Faculdade de Odontologia Departamento de FonoaudiologiaUNIFESPSciEL