Epilepsy after congenital zika virus infection: EEG and neuroimaging features.

PURPOSE: To describe epilepsy after congenital Zika virus infection (ZIKV) and its relationship with structural neuroimaging findings. METHODS: This was a cross-sectional study in children (aged 13-42 months) who were born with microcephaly due to ZIKV infection between 2015-2017. Patients underwent a brain imaging scan (magnetic resonance) and a video-EEG study. RESULTS: Among the patients (n = 43), 55.8 % were male, 88.4 % were born at term, mean head circumference at the birth was 29.7 ± 1.8 cm, and 44.8 % were infected in the first trimester of pregnancy. Neuroimaging was moderately abnormal in 30.2 % and severely abnormal in 46.5 % of patients. Early seizures (<6 months of age) were observed in 41.9 %. EEG background was abnormal when asleep or awake in 72.1 % and during sleep in 62.8 %. The interictal epileptogenic activity was recorded on 41/43 of the EEGs and was predominantly multifocal (62.8 %). An ictal EEG was obtained in 22 patients and 31.8 % had more than one seizure type. Sleep EEG (background) patterns, interictal epileptogenic activity (p = 0.046), interictal discharge localization (p = 0.015), type of ictal epileptogenic activity (p = 0.002), and localization of ictal discharge (p = 0.024) were significantly different between neuroimaging groups. The mild neuroimaging group had a higher chance of having more frequently normal sleep EEG patterns, no interictal epileptogenic activity and a further increase in the probability of walking without limitations, and less neurodevelopment delay. CONCLUSION: In patients with congenital Zika virus syndrome, epilepsy tended to be early and refractory. EEG features correlated with degree of neuroimaging abnormalities.

Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy.

UNLABELLED: Juvenile myoclonic epilepsy (JME) accounts for 26% of generalized idiopathic epileptic syndromes. The highest levels of thrombin activity are closely involved in the development of neurological diseases, including epilepsy. The prothrombin c.20210G>A (rs1799963) variation, which alters prothrombin mRNA stability, is associated with high plasma prothrombin levels. OBJECTIVE: The present study was designed to investigate whether the SNP rs1799963 is a risk factor for JME in the northeastern Brazilian population. RESULTS: The polymorphism was genotyped in 207 controls and 123 patients using polymerase chain reaction-restriction fragment length polymorphism method. No significant differences were observed in the genotype and allele frequencies of this polymorphism between cases and controls. CONCLUSION: These results present no evidence for an association of rs1799963 with JME. Further studies including other types of epilepsy are required to investigate the involvement of prothrombin gene in the genetic susceptibility to chronic seizure.

Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy / Ausência de associação entre o polimorfismo G20210A (rs1799963) da protrombina e epilepsia mioclônica juvenil

Juvenile myoclonic epilepsy (JME) accounts for 26% of generalized idiopathic epileptic syndromes. The highest levels of thrombin activity are closely involved in the development of neurological diseases, including epilepsy. The prothrombin c.20210G>A (rs1799963) variation, which alters prothrombin mRNA stability, is associated with high plasma prothrombin levels. Objective : The present study was designed to investigate whether the SNP rs1799963 is a risk factor for JME in the northeastern Brazilian population. Results : The polymorphism was genotyped in 207 controls and 123 patients using polymerase chain reaction-restriction fragment length polymorphism method. No significant differences were observed in the genotype and allele frequencies of this polymorphism between cases and controls. Conclusion : These results present no evidence for an association of rs1799963 with JME. Further studies including other types of epilepsy are required to investigate the involvement of prothrombin gene in the genetic susceptibility to chronic seizure. .

Epilepsia mioclônica juvenil (EMJ) representa 26% das síndromes epilépticas idiopáticas generalizadas. Níveis elevados de atividade da trombina estão intimamente envolvidos no desenvolvimento de distúrbios neurológicos, incluindo epilepsia. A variante c.20210G>A (rs1799963) do gene de protrombina, que altera a estabilidade do RNAm, está associada com altos níveis de protrombina no plasma. Objetivo: Investigar se o SNP rs1799963 é um fator de risco para EMJ em uma amostra da população do nordeste brasileiro. Resultados : O polimorfismo foi genotipado em 123 pacientes e 207 controles usando a reação de polimerase em cadeia com restrição de polimorfismo. Não observamos diferença significativa nas frequências alélicas e genotípicas deste polimorfismo, entre as populações de pacientes e controle. Conclusão : Estes resultados não demonstram evidências para uma associação do polimorfismo rs1799963 com EMJ. Estudos posteriores, incluindo outros tipos de epilepsia, são necessários para investigar o envolvimento do gene protrombina na susceptibilidade genética a crises crônicas. .

PER2 rs2304672, CLOCK rs1801260, and PER3 rs57875989 polymorphisms are not associated with juvenile myoclonic epilepsy.

Sleep disturbance is common in several epilepsy types, such as juvenile myoclonic epilepsy (JME). Genetic background could increase susceptibility to seizure and sleep abnormalities. From this perspective, a susceptibility gene for sleep disturbance or chronotype could contribute to the genetic susceptibility threshold for epilepsy and vice versa. Accordingly, we investigated whether functional clock gene polymorphisms (PER2 111C>G, CLOCK 3111T>C, and PER3 VNTR) might influence the risk for JME. All these polymorphisms have recently been reported to be associated with sleep disturbance, diurnal variation, and neurological diseases. The polymorphisms were genotyped in 97 patients and 212 controls using polymerase chain reaction or restriction fragment length polymorphism methods. No significant differences were observed in the genotypic and allelic frequencies of these polymorphisms between cases and controls even when analyses were restricted to patients that presented a diurnal preferential seizure occurrence. We also tested for interactions between polymorphisms by multifactor dimensionality reduction analysis. None of the combined genotypes differed significantly between the groups. These results present no evidence for an association of these polymorphisms with JME. Further studies including other types of epilepsy and/or other functional polymorphisms are required to investigate the possible relationship between clock genes and the genetic susceptibility to chronic seizure.

Relations between epileptic seizures and headaches.

PURPOSE: To describe headaches in patients with epilepsy and try to identify relations between epileptic seizures and headaches. METHODS: Cross-sectional study, with 304 patients from the epilepsy out-patient section of University Hospital of Federal University of Alagoas (Brazil) between February 2007 and February 2008. The presence of headaches and their relationships with the epileptic seizures were analyzed. RESULTS: Frequent seizures were associated with a greater tendency of occurrence of headaches (odds ratio=1.6 times, p=0.077). Headaches occurred in 66.1% of the cases. The highest occurrence was of migraine (32.9% of the patients), followed by tension-type headaches (9.2%). Two syndromes with a continuum epilepsy-migraine in the same seizure are worth mentioning: migralepsy in 6.6% and epilepgraine in 10.2% of the patients with epilepsy. CONCLUSIONS: A high prevalence of headaches in patients with epilepsy was observed, with emphasis on hybrid crises of epilepsy and migraine.

Lack of association between rs211037 of the GABRG2 gene and juvenile myoclonic epilepsy in Brazilian population.

BACKGROUND: Juvenile myoclonic epilepsy (JME) is an idiopathic generalized epilepsy syndrome with genetic basis and accounts for 10% of all forms of epilepsy. Despite the existence of rare mutations responsible for some familial forms inherited in a Mendelian pattern, the genetics of JME is complex and probably involves multiple genes. Because of widespread distribution in the central nervous system (CNS) and their ability to produce postsynaptic inhibition, GABA (A) receptor subunits (GABRs) encoding genes represent high ranking candidates for epilepsy susceptibility. AIM: This case/control study was designed to investigate whether the rs211037 of the GABRG2 gene is a risk factor for JME in the Brazilian population. MATERIALS AND METHODS: The polymorphism was genotyped in 98 patients and 130 controls using polymerase chain reaction-restriction fragment length polymorphism method. Descriptive and statistical analyses were performed using SNP stat software. RESULTS: Genotype proportions and allele frequencies for the rs211037 polymorphism of the GABARG2 gene did not differ significantly between the groups, even when the odds ratio was adjusted for clinical variables. CONCLUSION: These results present no evidence for an association of rs211037 with JME. Further studies are required to investigate the involvement of the GABRG2 gene in the genetic susceptibility to this epileptic syndrome.

Epilepsia mioclônica juvenil: estudo clínico, epidemiológico, terapêutico e da qualidade de vida / Juvenile myoclonic epilepsy: a clinical, epidemiological, therapeutic and quality of life study

INTRODUÇÃO: A Epilepsia Mioclônica Juvenil (EMJ) é uma epilepsia idiopática generalizada, que, apesar de descrita há mais de um século, é uma entidade clínica ainda subdiagnosticada. OBJETIVO: Apresentar o perfil clínico, epidemiológico e terapêutico de pacientes com EMJ, além de mensurar a qualidade de vida destes. METODOLOGIA: Foram avaliados dezenove pacientes com EMJ, acompanhados no Hospital Universitário da Universidade Federal de Alagoas, com o Protocolo de Consulta Clínica e o QOLIE-31 (Quality of life in epilepsy), versão brasileira. RESULTADOS: O estudo mostrou que dentre os 19 pacientes selecionados, 12 (63 por cento) eram do sexo feminino; a idade de início das crises epiléticas teve média de 12 anos (±3); a história familiar para epilepsia foi positiva 78,9 por cento dos entrevistados; todos apresentavam crises mioclônicas de predomínio matinal associadas a crises tônico-clônicas generalizadas; 14 pacientes (73,7 por cento) estavam em monoterapia, sendo 13 com o ácido valpróico. A "Pontuação Global" (Overall score) do QOLIE-31 variou de 26 a 98, com média de 62,1 (±18,4) e T-score (escore padronizado) corresponde a 47. CONCLUSÃO: A análise dos resultados auxilia sobremaneira na melhor caracterização deste grupo de pacientes, além de quantificar através de instrumento validado, pela primeira vez, a qualidade de vida destes, a qual não pode mais ser ignorada no seu manejo.

INTRODUCTION: The Juvenile Myoclonic Epilepsy (JME) is an idiopathic generalized epilepsy that, despite being descripted for more than a century, it is still a clinical entity often misdiagnosed. OBJECTIVE: Introduce the clinical, epidemiological and therapeutic profile of patients with JME, addition to measuring the quality of their life. METHODOLOGY: Nineteen patients carrying JME were evaluated. They had been examinated at the Federal University of Alagoas' Academic Hospital, with the Clinical Enquiry Protocol and the QOLIE-31 (Quality of life in epilepsy), Brasilian version. RESULTS: Among the 19 selected patients, 63 percent were female; the average age for the first seizure was twelve years (±3); the epilepsy familiar history were positive in 78,9 percent of the patients; all patients presented myoclonic seizures with matinal predominance associated to generalized tonic-clonic seizures; 14 patients (73,7 percent) were in monotherapy, 13 of these with sodium valproate. The "Overall score" of QOLIE-31 range from 26 to 98, with an average score of 62,1 (±18,4) and T-score (standardized score) corresponding 47. CONCLUSION: The analysis helps considerably in the best characterization of this group of patients and quantifies for the first time, through validated instrument, the quality of life of them, which can no longer be ignored in their management.

Developmental characteristics of temporal sharp transients in the EEG of normal preterm and term newborns.

OBJECTIVE: To describe developmental characteristics, morphological aspects and incidence of temporal sharp transients (TST) in normal preterm and term newborns at matched conceptional ages (CA). METHOD: Neonatal EEGs from two groups of normal newborns were evaluated in order to identify and characterize TST. Group I (n=40) consisted of newborns from 34 to 40 weeks of gestational age (GA) that were submitted to a single EEG between 24 and 48 hours of life. Group II consisted of 10 preterm newborns with GA between 30-32 weeks, followed with a weekly EEG until they reached term. Morphology of TST was divided in 3 groups (temporal sawtooth, isolated transients or repetitive transients). TST index, density and total number were calculated in each polysomnography and related to sleep stages and CA. Laterality (right/left) was also evaluated. The groups were compared at 34, 36, 38 and 40 weeks of CA. RESULTS: TST index and density decreased with the increase of CA in both groups (p<0.0001). The temporal sawtooth feature was registered in both groups only at 34 weeks. Although rare, repetitive and isolated TST were the most prevalent morphology between 36 - 40 weeks CA. Significant intragroup difference was observed in the comparison of TST density in REM and transitional sleep in GI. Moreover, isolated TST morphology was significant higher in GI at 34 weeks when compared to the others CA. No intragroup differences were observed on GII. No significant differences between the groups were observed considering TST number, index, density, morphology or laterality, at the matched CA. CONCLUSION: TST are normal features of neonatal EEG, as they are registered in normal newborns. Its incidence varies accordingly to morphology and they tend to disappear following the increase of CA. Temporal sawtooth appears more often in preterm newborns. Our results suggest that TST index, density and morphology variability may be a function of CA.

Developmental characteristics of temporal sharp transients in the EEG of normal preterm and term newborns

OBJECTIVE: To describe developmental characteristics, morphological aspects and incidence of temporal sharp transients (TST) in normal preterm and term newborns at matched conceptional ages (CA). METHOD: Neonatal EEGs from two groups of normal newborns were evaluated in order to identify and characterize TST. Group I (n=40) consisted of newborns from 34 to 40 weeks of gestational age (GA) that were submitted to a single EEG between 24 and 48 hours of life. Group II consisted of 10 preterm newborns with GA between 30-32 weeks, followed with a weekly EEG until they reached term. Morphology of TST was divided in 3 groups (temporal sawtooth, isolated transients or repetitive transients). TST index, density and total number were calculated in each polysomnography and related to sleep stages and CA. Laterality (right/left) was also evaluated. The groups were compared at 34, 36, 38 and 40 weeks of CA. RESULTS: TST index and density decreased with the increase of CA in both groups (p<0.0001). The temporal sawtooth feature was registered in both groups only at 34 weeks. Although rare, repetitive and isolated TST were the most prevalent morphology between 36 - 40 weeks CA. Significant intragroup difference was observed in the comparison of TST density in REM and transitional sleep in GI. Moreover, isolated TST morphology was significant higher in GI at 34 weeks when compared to the others CA. No intragroup differences were observed on GII. No significant differences between the groups were observed considering TST number, index, density, morphology or laterality, at the matched CA. CONCLUSION: TST are normal features of neonatal EEG, as they are registered in normal newborns. Its incidence varies accordingly to morphology and they tend to disappear following the increase of CA. Temporal sawtooth appears more often in preterm newborns. Our results suggest that TST index, density and morphology variability may be a function of CA

Hematoma extradural bilateral: Consideraçöes sobre três casos e revisao de literatura / Bilateral extradural hematoma: Considerations about three cases and literature review

Três casos de hematoma extradural bilateral säo apresentados neste trabalho. Os autores fazem uma análise da patogenia destes hematomas, do tratamento cirúrgico dos mesmos, dos subsídios fornecidos pela tomografia computadorizada (TC), bem como realizam uma revisäo da literatura recente

Neuroesquistossomose em Alagoas / Neuroschistosomiasis in Alagoas

Este trabalho foi realizado no Hospital do Açúcar e Hospital do SESI, em Maceió. Estudamos aproximadamente 100 pacientes que chegaram aos nossos Serviços com manifestaçöes clínicas sugestivas de neuropatias periféricas, discopatias ou comprometimento do sistema nervoso autônomo, com vistas a estabelecer a etiologia das referidas alteraçöes. Identificamos neste grupo 18 pacientes com neuroesquistossomose, confirmados com análise do líquor cefalorraquiano (L.C.R.), exame parasitológico de fezes (E.P.F.) ou biópsia retal (B.R.). Encontramos, além dos quadros já descritos na literatura, casos com diagnóstico prévio de hérnia discal, hiperplasia prostática ou histeria. A evoluçäo clínica e sobretudo liquórica com o tratamento específico (praziquantel ou oxaminiquine) foi mais favorável do que os relatos prévios da literatura. Houve um caso com história pregressa de mielite transversa alguns anos antes, com remissäo total, porém os estudos de potenciais evocados afastaram a possibilidade de esclerose múltipla. Dentre os trabalhos já descritos o nosso se destaca pela alta incidência de esquistossomose como etiologia dos quadros acima descritos

Síndrome de Klüver-Bucy: importância do reconhecimento clínico no homem / Klüver-Bucy syndrome

Os autores relatam o caso de um paciente com a síndrome de Klüver-Bucy determinada por traumatismo craniencefálico, levando à atrofia do hemisfério cerebral esquerdo. Controle parcial das manifestaçöes foi obtido com o emprego de haloperidol. Na discussäo a seguir, é enfatizada a necessidade do diagnóstico clínico das formas incompletas da apresentaçäo da síndrome no homem. Dada as irredutíveis diferenças entre os aspectos estruturais, simbólicos e comportamentais dos cérebros do Homo sapiens e do Macacus rhesus, procuramos chamar a atençäo para as peculiaridades clínicas do modelo humano