ABSTRACT
BACKGROUND: Malformations of cortical development (MCD) usually manifest in childhood with epilepsy, developmental delay and focal neurological abnormalities. OBJECTIVE: To evaluate the presentation and severity of epilepsy in the different types of MCD. METHOD: We evaluated the first 100 consecutive patients with a neuroimaging diagnosis of MCD. They were identified among all the high resolution magnetic resonance imaging exams performed at our service between 1997 and 2001. The causes of referral were diverse, according to the routine of the neurology outpatient clinic. After magnetic resonance imaging diagnosis of the subtype of MCD a detailed clinical assessment was performed. RESULTS: There were 55 females and 45 males, with ages ranging from five months to 71 years old (mean=15.2 years). Seventy-seven patients presented with epilepsy. Sixty-one had partial epileptic syndromes, 13 secondary generalized syndromes, and in three, the type of epileptic syndrome could not be established. Epilepsy was less frequent in patients with the MCD subtypes of polymicrogyria and schizencephaly (p<0.001). Patients with schizencephaly and polymicrogyria had their seizures more easily controlled by antiepileptic drugs (p<0.001). CONCLUSION: That the frequency of epilepsy is lower and seizures are more easily controlled in the setting of polymicrogyria and schizencephaly. Patients with MCD frequently present with secondary generalized epilepsy early in childhood.
INTRODUÇÃO: As malformações do desenvolvimento cortical (MDC) geralmente se manifestam na infância, na forma de crises epilépticas, retardo do desenvolvimento neuropsicomotor ou anormalidades focais. OBJETIVO: Avaliar a apresentação clínica e a gravidade da epilepsia nos diferentes tipos de MDC. MÉTODO: Cem pacientes com diagnóstico de MDC estabelecido por neuroimagem foram avaliados. Os pacientes foram identificados através de exames de ressonância magnética de alta resolução realizados entre 1997 e 2001. As causas para investigação por imagem foram diversas, conforme as indicações de rotina dos ambulatórios de neurologia. Após a determinação do subtipo de MDC, uma avaliação clínica detalhada foi realizada. RESULTADOS: Entre os 100 pacientes, 55 eram do sexo feminino e 45 do masculino, com idade variando entre 5 meses e 71 anos (média=15,2 anos). Setenta e sete pacientes apresentaram epilepsia. Sessenta e um tinham síndrome epiléptica parcial, 13 síndrome epiléptica secundariamente generalizada e em três, o tipo de crise não pode ser definido. Epilepsia foi menos freqüente em pacientes com polimicrogiria e esquizencefalia (p<0.001). As crises epilépticas foram controladas mais facilmente por drogas antiepilépticas em pacientes com polimicrogiria e esquizencefalia (p<0.001). CONCLUSÃO: A freqüência de epilepsia é menor e as crises são mais facilmente controladas em pacientes com polimicrogiria e esquizencefalia. Pacientes com MDC freqüentemente apresentam síndrome epiléptica secundariamente generalizada.
Subject(s)
Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Infant , Male , Epilepsy/etiology , Malformations of Cortical Development/complications , Anticonvulsants/therapeutic use , Brazil/epidemiology , Electroencephalography , Epilepsy, Generalized/diagnosis , Epilepsy, Generalized/etiology , Epilepsy, Generalized/physiopathology , Epilepsy/drug therapy , Epilepsy/epidemiology , Magnetic Resonance Imaging , Malformations of Cortical Development/diagnosis , Malformations of Cortical Development/physiopathology , Syndrome , Seizures/prevention & controlABSTRACT
Crises reflexas a banhos quentes, tônicas-clônicas parciais e generalizadas foram descritas como relacionadas à temperatura. Descrevemos três casos de epilepsia do banho quente: um homem de 28 anos e uma mulher de 30 anos com crises provocadas por contato com água morna ou quente e uma mulher de 32 anos com crises ao contato com água quente. Os últimos dois casos apresentaram epilepsia localizada e um histórico familiar de epilepsia. Nesta forma de epilepsia, um estímulo táctil complexo parece ter o papel mais relevante na precipitação das crises, sendo potencializado pela temperatura da água.
Subject(s)
Adult , Female , Humans , Male , Baths/adverse effects , Epilepsies, Partial/etiology , Epilepsy, Generalized/etiology , Hot Temperature/adverse effects , Water/adverse effectsABSTRACT
Intracranial schwannoma not related to cranial nerves are unusual and rarely found in the subfrontal region. We report a case of cystic olfactory groove schwannoma in a 55-year- old male, who presented with late onset seizure without raised intracranial pressure. The tumor was excised completely.
Subject(s)
Brain Neoplasms/complications , Cysts/complications , Epilepsy, Generalized/etiology , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Neurilemmoma/complicationsABSTRACT
An Ala322Asp mutation in the GABRA1 gene was recently reported to be responsible for causing the autosomal dominant (AD) form of juvenile myoclonic epilepsy (JME) in a French-Canadian family. To study if JME families from India exhibiting the AD mode of inheritance carry the Ala322Asp mutation, we examined 35 unrelated JME-affected individuals from such families for the Ala322Asp mutation in GABRA1. Ala322Asp mutation was not observed in any of these JME-affected individuals, suggesting that this mutation is unlikely to be a predominant mutation involved in causation of epilepsy. To evaluate the possibility of other mutation(s) in and around GABRA1 that may predispose to JME, we compared the allele frequencies at two marker loci, D5S2118 and D5S422, flanking GABRA1, in probands and 100 matched population controls. One of the allele frequencies at D5S422 shows a significant difference between the cases and controls (chi-square = 11.44, d.f. = 1, P = 0.0007), suggesting genetic association between JME and genes located in the proximity of the DNA marker.
Subject(s)
Adolescent , Amino Acid Substitution , Epilepsy, Generalized/etiology , Family , Female , Gene Frequency , Genetic Predisposition to Disease , Genotype , Humans , India , Genetic Linkage , Male , Microsatellite Repeats , Mutation/genetics , Myoclonic Epilepsy, Juvenile/etiology , Receptors, GABA-A/geneticsABSTRACT
El objetivo de este estudio es la evaluación clínica y electroencefalográfica de las epilepsias fotosensibles. Se analizaron 14 pacientes (p) con epilepsia fotosensible EF, 9 de ellos con EF pura y 5 p con crisis autoinducidas. 10 fueron varones y 4 mujeres. Edad media de comienzo de las crisis autoinducidas 5 ñ 2 años (2-8) y de la epilepsia fotosensible pura, 9 ñ 3 años (4-13). El tiempo de seguimiento fué de 11 ñ 10 años (1-30). A todos se les realizó un electroencefalograma (EEG) con estimulación luminosa intermitente (ELI) en 1994. Las crisis fueron inducidas por el sol en 3 p, televisión (TV) en 4 p, sol y TV en 4 p, y video-juegos en 3 pacientes; 12 epilepsias fueron idiopáticas y 2 sintomáticas. Antecedentes familiares de epilepsia se determinaron en un 43 por ciento. Luego del tratamiento, 5 p normalizaron su EEG (35,71 por ciento) pero 9 p (64,29 por ciento) conservan la respuesta anormal a la ELI y de éstos últimos 7 continúan con crisis. Todos los p con crisis por video-juegos una vez comenzado el tratamiento normalizaron el EEG y no presentaron más crisis. Conclusión: Entre las epilepsias fotosensibles puras aquellas inducidas por video-juegos parecen ser las más benignas. La persistencia del EEG con respuesta fotoconvulsiva predice el pobre control de las crisis fotosensibles