Left-sided epileptiform activity influences language lateralization in right mesial temporal sclerosis.

OBJECTIVE: To investigate the association between left epileptiform activity and language laterality indices (LI) in patients with right mesial temporal sclerosis (MTS). METHODS: Twenty-two patients with right MTS and 22 healthy subjects underwent fMRI scanning while performing a language task. LI was calculated in multiple regions of interest (ROI). Data on the presence of left epileptiform abnormalities were obtained during prolonged video-EEG monitoring. RESULTS: After correction for multiple comparisons, LI was reduced in the middle temporal gyrus in the left interictal epileptiform discharges (IED+) group, compared with the left IED- group (p < 0.05). SIGNIFICANCE: Using a responsive reading naming fMRI paradigm, right MTS patients who presented left temporal interictal epileptiform abnormalities on video-EEG showed decreased LI in the middle temporal gyrus, indicating decreased left middle temporal gyrus activation, increased right middle temporal gyrus activation or a combination of both, demonstrative of language network reorganization, specially in the MTG, in this patient population. PLAIN LANGUAGE SUMMARY: This research studied 22 patients with right mesial temporal sclerosis (a specific type of epilepsy) comparing them to 22 healthy individuals. Participants were asked to perform a language task while undergoing a special brain imaging technique (fMRI). The findings showed that patients with epilepsy displayed a change in the area of the brain typically responsible for language processing. This suggests that their brains may have adapted due to their condition, altering the way language is processed.

Bilateral ictal EEG is associated with better memory outcome after hippocampal sclerosis surgery.

OBJECTIVE: To compare memory outcomes after surgery for unilateral hippocampal sclerosis (HS)-associated epilepsy in patients with unilateral and bilateral ictal electrographic involvement. METHODS: We prospectively evaluated HS patients, aged 18-55 years and IQ ≥70. Left (L) and right (R) surgical groups underwent noninvasive video-EEG monitoring and Wada test. We classified patients as Ipsilateral if ictal EEG was restricted to the HS side, or Bilateral, if at least one seizure onset occurred contralaterally to the HS, or if ictal discharge evolved to the opposite temporal region. Patients who declined surgery served as controls. Memory was evaluated on two occasions with Rey Auditory-Verbal Learning Test and Rey Visual-Design Learning Test. Baseline neuropsychological test scores were compared between groups. Pre- and postoperative scores were compared within each group. Reliable change index Z-scores (RCI) were obtained using controls as references, and compared between surgical groups. RESULTS: We evaluated 64 patients. Patients were classified as: L-Ipsilateral (9), L-Bilateral (15), L-Control (9), R-Ipsilateral (10), R-Bilateral (9), and R-Control (12). On preoperative evaluation, memory performance did not differ among surgical groups. Right HS patients did not present postoperative memory decline. L-Ipsilateral group presented postoperative decline on immediate (P = 0.036) and delayed verbal recall (P = 0.011), while L-Bilateral did not decline. L-Ipsilateral had lower RCI Z-scores, indicating delayed verbal memory decline compared to L-Bilateral (P = 0.012). SIGNIFICANCE: Dominant HS patients with bilateral ictal involvement presented less pronounced postoperative verbal memory decline compared to patients with exclusive ipsilateral ictal activity. Surgery was indicated in these patients regardless of memory impairment on neuropsychological testing, since resection of the left sclerotic hippocampus could result in cessation of contralateral epileptiform activity, and, therefore, improved memory function.

Corpus callosum diffusion abnormalities in refractory epilepsy associated with hippocampal sclerosis.

OBJECTIVES: To detect by diffusion tensor imaging (DTI) the extent of microstructural integrity changes of the corpus callosum (CC) in patients with hippocampal sclerosis (HS) and to evaluate possible association with clinical characteristics. METHODS: Fourty-two patients with temporal lobe epilepsy (TLE) and HS and 30 control subjects were studied with DTI. We grouped patients according to lesion side (left or right) HS. Mean diffusivity (MD), fractional anisotropy (FA), radial (RD) and axial diffusivity (AD) were extracted from five segments in CC midsagittal section obtained by automatic segmentation. CC DTI findings were compared between groups. We also evaluated association of DTI changes and clinical characteristics. RESULTS: HS patients displayed decreased FA and increased MD and RD in the anterior, mid-posterior and posterior CC segments, compared to controls. No differences were observed in AD. Patients reporting febrile seizure as the initial precipitating event presented more intense diffusion changes. No differences were seen comparing left and right HS. Age at epilepsy onset, disease duration and seizure frequency were not associated with DTI findings. CONCLUSIONS: This is one of the largest series of TLE-HS patients evaluating CC white matter fiber integrity by DTI, which allowed us to study how some clinical characteristics, such as seizure frequency, disease duration and lesion side, are related to CC integrity. Occurrence of febrile seizure was the only factor that had significant impact on tract integrity. Diffusion changes were not restricted to the posterior part of the CC; we observed the same changes for the anterior part of the CC. Diffusion changes were characterized by an increase in RD, while the AD remained intact for all regions of the CC.

Contralateral interictal and ictal EEG epileptiform activity accentuate memory impairment in unilateral mesial temporal sclerosis patients.

OBJECTIVE: Memory impairment is a recognized complication of mesial temporal sclerosis (MTS). Epileptiform activity may negatively impact on cognition. We evaluated the impact of contralateral EEG involvement on memory in unilateral MTS (uMTS) patients. METHOD: Retrospective review of 121 right-handed uMTS patients (69 left) evaluated with prolonged video-EEG and verbal and nonverbal memory tests (Rey Auditory Verbal Learning Test and Rey-Osterrieth Complex figure), with additional very delayed trials. Patients were classified according to ictal/interictal EEG findings and MTS side as left or right concordant or discordant. Thirty-nine normal individuals who underwent the same neuropsychological battery served as controls. RESULTS: Demographic, disease, and treatment features did not differ among groups. On the 7-day verbal memory free recall, left discordant performed significantly worse than controls and right concordant, recognized fewer words, and had more recognition errors than all other groups, including left concordant. For nonverbal memory, right discordant performed significantly worse than controls on delayed recall, and attained lower scores than other groups on immediate and 7-day recall, but this difference did not reach statistical significance. Left discordant had higher scores of memory complaints than controls and disclosed a trend toward accentuated memory impairment compared with the other groups over time. CONCLUSIONS: Our results suggest that contralateral electrographic involvement in uMTS was associated with more pronounced memory impairment for verbal material in left discordant patients, and to a lesser extent, for nonverbal material in right discordant patients. Left discordant group also had increased memory complaints. (PsycINFO Database Record

Extratemporal abnormalities in phosphorus magnetic resonance spectroscopy of patients with mesial temporal sclerosis.

OBJECTIVE: We evaluated extratemporal metabolic changes with phosphorus magnetic resonance spectroscopy (31P-MRS) in patients with unilateral mesial temporal sclerosis (MTS). METHOD: 31P-MRS of 33 patients with unilateral MTS was compared with 31 controls. The voxels were selected in the anterior, posterior insula-basal ganglia (AIBG, PIBG) and frontal lobes (FL). Relative values of phosphodiesters- PDE, phosphomonoesters-PME, inorganic phosphate - Pi, phosphocreatine- PCr, total adenosine triphosphate [ATPt = γ- + a- + b-ATP] and the ratios PCr/ATPt, PCr/γ-ATP, PCr/Pi and PME/PDE were obtained. RESULTS: We found energetic abnormalities in the MTS patients compared to the controls with Pi reduction bilaterally in the AIBG and ipsilaterally in the PIBG and the contralateral FL; there was also decreased PCr/γ-ATP in the ipsilateral AIBG and PIBG. Increased ATPT in the contralateral AIBG and increased γ-ATP in the ipsilateral PIBG were detected. CONCLUSION: Widespread energy dysfunction was detected in patients with unilateral MTS.

Extratemporal abnormalities in phosphorus magnetic resonance spectroscopy of patients with mesial temporal sclerosis / Anormalidades extratemporais na espectroscopia de fósforo por ressonância magnética em pacientes com esclerose mesial temporal

ABSTRACT Objective We evaluated extratemporal metabolic changes with phosphorus magnetic resonance spectroscopy (31P-MRS) in patients with unilateral mesial temporal sclerosis (MTS). Method 31P-MRS of 33 patients with unilateral MTS was compared with 31 controls. The voxels were selected in the anterior, posterior insula-basal ganglia (AIBG, PIBG) and frontal lobes (FL). Relative values of phosphodiesters- PDE, phosphomonoesters-PME, inorganic phosphate - Pi, phosphocreatine- PCr, total adenosine triphosphate [ATPt = γ- + a- + b-ATP] and the ratios PCr/ATPt, PCr/γ-ATP, PCr/Pi and PME/PDE were obtained. Results We found energetic abnormalities in the MTS patients compared to the controls with Pi reduction bilaterally in the AIBG and ipsilaterally in the PIBG and the contralateral FL; there was also decreased PCr/γ-ATP in the ipsilateral AIBG and PIBG. Increased ATPT in the contralateral AIBG and increased γ-ATP in the ipsilateral PIBG were detected. Conclusion Widespread energy dysfunction was detected in patients with unilateral MTS.

RESUMO Objetivo Nós avaliamos as alterações metabóblicas através da espectroscopia de fósforo por ressonância magnética (31P-MRS) em pacientes com esclerose mesial temporal (EMT) unilateral. Método 31P-MRS de 33 pacientes com EMT unilateral foram comparadas aos de 31 controles. Foram selecionados os voxels nas regiões insulonuclear anterior e posterior (RINA e RINP) e frontal (RF). Os valores relativos de fosfodiésteres – PDE, fosfomonoésteres- PME, fosfato inorgânico- Pi, fosfocreatina –PCr, adenosina trifosfato total [ATPt = γ- + a- + b-ATP] e as razões PCr/ATPt, PCr/γ-ATP, PCr/Pi e PME/PDE foram obtidas. Resultados Nós encontramos anormalidades em pacientes com EMT em comparação aos controles. Redução de Pi nas RINA bilateralmente, RINP ipsilateral e RF contralateral, redução de PCr/γ-ATP nas RINA e RINP ipsilaterais foram detectadas. Aumentos de ATPT na RINA contralateral e aumento de γ-ATP na RINP ipsilateral também foram encontradas. Conclusão Disfunção energética difusa foi encontrada em pacientes com EMT unilateral.

Contralateral ictal electrographic involvement is associated with decreased memory performance in unilateral mesial temporal sclerosis.

PURPOSE: To evaluate the effect of contralateral electrographic involvement on memory performance (measured by neuropsychological and Wada memory testing) in patients with epilepsy associated with unilateral mesial temporal sclerosis (MTS). METHODS: We studied 51 patients with medically-refractory epilepsy associated with unilateral MTS (27 women, 30/51, left MTS) submitted to prolonged non-invasive video-EEG monitoring and bilateral Wada testing. According to ictal electrographic involvement, patients were classified as: Contralateral ictal involvement, when one or more seizures evolved with rhythmic activity in the temporal region contralateral to the MTS or exclusive ipsilateral ictal involvement if all seizures showed ictal EEG activity exclusively on the MTS side. Wada testing involved a twelve-item memory paradigm. Wada memory asymmetry score was calculated for each patient subtracting the number of recalled items after injection on the lesion side from the number of recalled items after contralateral injection. Expected asymmetry (EA) was considered if Wada memory asymmetry>0, and Symmetrical or Reversed memory asymmetry (S-RA) when ≤ 0. Neuropsychological testing was applied in the 51 patients and in 40 healthy controls. Verbal Memory was evaluated with the Rey Auditory Verbal Learning Test (RAVLT), considering the number of recalled items on immediate recall after the initial five consecutive encoding trials (RAVLT 6), a post-interference delayed (30 min) recall (RAVLT 7), and recall after 7 days. Nonverbal memory was tested with Wechsler Memory Scale-III (WMS-III) Faces subtests 1 e 2. RESULTS: Groups did not differ in demographic, clinical and video-EEG monitoring variables. S-RA was observed more frequently in the group with contralateral ictal involvement (57.2% vs. 27.0%; p: 0.03). Logistic regression analysis considering demographic, clinical, hippocampal volume and video-EEG monitoring variables showed contralateral ictal involvement as the only independent variable associated with S-RA (coefficient=1.32, p=0.029, odds ratio 3.77; 95% CI 1.1-12.47). Additionally, the patient group with contralateral ictal EEG involvement displayed worse verbal and nonverbal memory scores compared to healthy controls. CONCLUSION: In this cohort of unilateral MTS patients, contralateral ictal involvement was associated with decreased memory performance on Wada and on neuropsychological testing.

Serial and prolonged EEG monitoring in anti-N-Methyl-d-Aspartate receptor encephalitis.

OBJECTIVE: To describe serial electroencephalographic (EEG) findings of three patients with anti-NMDAR encephalitis. METHODS: Three women (age 15-34years) with confirmed anti-NMDAR encephalitis underwent serial EEG recordings. Continuous EEG for 72h was performed in one case and 3-day video-EEG monitoring was obtained in two cases. RESULTS: Generalized rhythmic delta activity (GRDA) was found in all patients. GRDA persisted for hours, but was not continuous on a 24-h EEG recording, disclosed no frequency, voltage or field evolution, and was not seen on the first EEG of two patients. Extreme delta brush was noted in two patients who presented more severe disease. One patient presented seizures, which were electrographically and clinically different from the GRDA pattern and from dyskinetic movements. CONCLUSIONS: Serial or continuous EEG may be necessary to detect GRDA in anti-NMDAR patients. To avoid unnecessary treatment, this pattern should not be interpreted as indicative of ictal activity, unless there is evidence of its ictal nature. SIGNIFICANCE: Our findings may contribute to the diagnosis of anti-NMDAR encephalitis in cases with characteristic clinical picture.

Low prevalence but high specificity of material-specific memory impairment in epilepsy associated with hippocampal sclerosis.

PURPOSE: Material-specific memory impairment is used as a lateralizing tool in the evaluation of temporal lobe epilepsy. Lateralizing ability of material-specific memory deficits in temporal lobe epilepsy remains controversial. METHODS: We studied memory impairment profiles of verbal and nonverbal memory deficits with eight memory subtests of four neuropsychological instruments (two verbal and two nonverbal) in 87 right-handed patients with epilepsy associated with unilateral mesial temporal sclerosis (MTS; 44 right - R, 43 left - L) and 42 controls, with an IQ >70, at least 8 years of education, and without comorbidities. KEY FINDINGS: Selective verbal memory impairment was noted in 11 of 43 or 25.6% of left MTS cases, with 82.2% specificity, whereas selective nonverbal memory impairment was noted in 11 of 42 or 26.2% of right MTS cases, with 92% specificity. Nonlateralizing profiles of memory performance were seen in the remaining 65 of 87 patients. Approximately half (46/87 or 52.9%) of the patients had intact memory function in both modalities, equally distributed between patients with right MTS (23/44) and left MTS (23/43). Global impairment of both memory types was seen in 12 of 87 or 13.8% of patients, equally distributed between the two groups (7/43 left and 5/44 right). SIGNIFICANCE: Lateralizing profiles of selective verbal and nonverbal memory deficits are highly specific for left and right MTS, although infrequently encountered in our patients. Nonlateralizing profiles predominated in this population. These findings suggest hemispheric asymmetry memory function, with complex functional interaction of the hippocampi, and possible compensatory mechanisms in the setting of a unilateral lesion.

Phosphorus magnetic resonance spectroscopy in malformations of cortical development.

PURPOSE: The aim of this study was to evaluate phospholipid metabolism in patients with malformations of cortical development (MCDs). METHODS: Thirty-seven patients with MCDs and 31 control subjects were studied using three-dimensional phosphorus magnetic resonance spectroscopy ((31)P-MRS) at 3.0 T. The voxels in the lesions and in the frontoparietal cortex of the control subjects were compared (the effective volumes were 12.5 cm(3)). Robust quantification methods were applied to fit the time-domain data to the following resonances: phosphoethanolamine (PE); phosphocholine (PC); inorganic phosphate (Pi); glycerophosphoethanolamine (GPE); glycerophosphocholine (GPC); phosphocreatine (PCr); and α-, ß-, and γ-adenosine triphosphate (ATP). We also estimated the total ATP (ATP(t) = α-+ß-+γ-ATP), phosphodiesters (PDE = GPC+GPE), phosphomonoesters (PME = PE+PC), and the PME/PDE, PCr/ATP(t) and PCr/Pi ratios. The magnesium (Mg(2+)) levels and pH values were calculated based on PCr, Pi, and ß-ATP chemical shifts. KEY FINDINGS: Compared to controls and assuming that a p-value < 0.05 indicates statistical significance, the patients with MCDs exhibited significantly lower pH values and higher Mg(2+) levels. In addition, the patients with MCDs had lower GPC and PDE and an increased PME/PDE ratio. SIGNIFICANCE: Mg(2+) and pH are important in the regulation of bioenergetics and are involved in many electrical activity pathways in the brain. Our data support the idea that neurometabolic impairments occur during seizure onset and propagation. The GPC, PDE, and PME/PDE abnormalities also demonstrate that there are membrane turnover disturbances in patients with MCDs.

Good surgical outcome in discordant ictal EEG-MRI unilateral mesial temporal sclerosis patients.

PURPOSE: Video electroencephalography (vEEG) monitoring of patients with unilateral mesial temporal sclerosis (uMTS) may show concordant or discordant seizure onset in relation to magnetic resonance imaging (MRI) evidence of MTS. Contralateral seizure usually leads to an indication of invasive monitoring. Contralateral seizure onset on invasive monitoring may contraindicate surgery. We evaluated long-term outcome after anteromesial temporal lobectomy (AMTL) in a consecutive series of uMTS patients with concordant and discordant vEEG findings, uniformly submitted to AMTL on the MRI evidence of MTS side without invasive monitoring. METHODS: We compared surgical outcome of all uMTS patients undergoing vEEG monitoring between January 1999 and April 2005 in our service. Discordant cases were defined by at least one seizure onset contralateral to the MRI evidence of MTS. Good surgical outcome was considered as Engel's class I. We also evaluated ictal SPECT concordance to ictal EEG and surgical outcome. RESULTS: Fifty-four patients had concordant (C) and 22 had discordant (D) scalp EEG and MRI. Surgical outcome was similar in both groups (C = 74% versus D = 86%). Duration of follow-up was comparable in both groups: C = 56.1 +/- 20.7 months versus D = 59.8 +/- 21.2 months (p = 0.83, nonsignificant). Discordant single-photon emission computed tomography (SPECT) results did not influence surgical outcome. DISCUSSION: Surgical outcome was not influenced by contralateral vEEG seizure onset or contralateral increased flow on ictal SPECT. Although vEEG monitoring should still be performed in these patients, to rule out psychogenic seizures and extratemporal seizure onset, a potentially risky procedure such as invasive monitoring may not only not be indicated in this patient population, but may also lead to patients erroneously being denied surgery.

Epilepsy syndromes associated with hypothalamic hamartomas.

PURPOSE: Hypothalamic hamartoma (HH) related epilepsy presents with gelastic seizures (GS), other seizure types and cognitive deterioration. Although seizure origin in GS has been well established, non-GS are poorly characterized. Their relationship with the HH and cognitive deterioration remains poorly understood. We analyzed seizure type, spread pattern in non-GS and their relationship with the epileptic syndrome in HH. METHODS: We documented all current seizure types in six adult patients with HH-epilepsy with video-EEG monitoring, characterized clinical-electrographic features of gelastic and non-gelastic seizures and correlated these findings with cognitive profile, as well as MRI and ictal SPECT data. RESULTS: Only four seizure types were seen: GS, complex partial (CPS), tonic seizures (TS) and secondarily generalized tonic-clonic seizures (sGTC). An individual patient presented either CPS or TS, but not both. GS progressed to CPS or TS, but not both. Ictal patterns in GS/TS and in GS/CPS overlapped, suggesting ictal spread from the HH to other cortical regions. Ictal SPECT patterns also showed GS/TS overlap. Patients with GS-CPS presented a more benign profile with preserved cognition and clinical-EEG features of temporal lobe epilepsy. Patients with GS-TS had clinical-EEG features of symptomatic generalized epilepsy, including mental deterioration. CONCLUSIONS: Video-EEG and ictal SPECT findings suggest that all seizures in HH-related epilepsy originate in the HH, with two clinical epilepsy syndromes: one resembling temporal lobe epilepsy and a more catastrophic syndrome, with features of a symptomatic generalized epilepsy. The epilepsy syndrome may be determined by HH size or by seizure spread pattern.

Pesquisa em epilepsia na infância / Research in epilepsy in the childhood

Este relato pretende divulgar a pesquisa em epilepsia na infância realizada por diferentes centros no nosso país. Estas informações foram apresentadas durante o Fórum Nacional de Epilepsia (XX Congresso Brasileiro de Neurofisiologia Clínica), e ilustram os esforços de cada grupo para promover pesquisa e conhecimentos sobre epilepsia em populações pediátricas. Os principais temas pesquisados incluem epidemiologia, eletrencefalografia, genética e aspectos cognitivos em crianças com epilepsia, estudos controlados de drogas antiepilépticas em diferentes síndromes epilépticas da infância, dieta cetogênica, crises únicas e crises febris, epilepsia do lobo frontal e do lobo temporal, síndrome de West e espasmos infantis, estado de mal epiléptico, malformações do desenvolvimento cortical, sono e epilepsia, cirurgia de epilepsia, co-morbidade psiquiátrica e aspectos de neuroimagem associados à epilepsia na infância. Alguns centros relataram a realização de estudos colaborativos envolvendo diferentes instituições, uma importante ferramenta para o desenvolvimento da pesquisa em epilepsia na infância em nosso país.(AU)

This report describes current pediatric epilepsy research carried out in Brazilian academic centers, presented at the National Epilepsy Forum, during the XX Brazilian Clinical Neurophysiology Congress. It illustrates the different groups’ efforts to promote research and increase awareness of epilepsy in the pediatric population. Main current research lines include epidemiology, electroencephalography, genetic and cognitive issues in pediatric epilepsy, controlled clinical trials with antiepileptic drugs in different childhood epileptic syndromes, ketogenic diet, single and febrile seizures, temporal and frontal lobe epilepsy, West syndrome-infantile spasms, status epilepticus, malformations of cortical development, sleep and epilepsy, epilepsy surgery in childhood, psychiatric co-morbities and neuroimaging in childhood epilepsy. Collaborative studies, an important tool in fostering research in pediatric epilepsy in our country, are being carried out by some academic centers.(AU)

[Pitfalls in the clinical and electroencephalographic diagnosis of ceroid lipofuscinosis]. / Dificuldades no diagnóstico clínico e eletrencefalográfico de lipofuscinose ceróide neuronal.

Neuronal ceroid lipofuscinosis (NCL) were traditionally classified according to age of onset and clinical features in four main groups. Recently, a combination of clinical, ultra structural and genetics data led to the recognition of eight forms of NCL, providing a more precise framework to classify atypical cases. By the other hand, it was shown that mutations in the same gene could be responsible for a large variety of clinical phenotypes. The objective of this study is to describe two brothers with clinical and electroencephalographic abnormalities characteristic of juvenile NCL, but with ultra structural abnormalities suggestive of late infantile NCL. Electroencephalogram is useful for clinical diagnosis of NCL but it is not helpful in its classification.

Dificuldades no diagnóstico clínico e eletrencefalográfico de lipofuscinose ceróide neuronal / Pitfalls in the clinical and electroencephalographic diagnosis of ceroid lipofuscinosis

Tradicionalmente, as lipofuscinoses ceróides neuronais (LCN) eram classificadas de acordo com a idade de início e características clínicas em quatro grandes grupos. Recentemente, os estudos genéticos possibilitaram uma classificação mais pormenorizada dessa entidade em oito formas, permitindo o diagnóstico mais preciso de casos previamente considerados atípicos. Por outro lado, foi demonstrado que mutações de um mesmo gene poderiam ser responsáveis por grande variedade de fenótipos clínicos. O objetivo deste estudo é apresentar dois irmãos com achados clínicos e eletrencefalográficos compatíveis com a forma juvenil de LCN mas com alterações ultra-estruturais características da forma infantil tardia dessa doença. Os achados eletrencefalográficos auxiliam no diagnóstico da LCN, mas pouco contribuem na sua classificação.

Transtorno invasivo do desenvolvimento e epilepsia / Pervasive developmental disorder and epilepsy

As encefalopatias epilépticas, como a Síndrome de Landau-Kleffner, são síndromes clínico-eletrencefalográficas progressivas cuja deterioração é tida como consequência das crises epilépticas frequêntes e da atividade epileptiforme abundante. Em crianças com transtorno invasivo do desenvolvimento, a prevalência de epilepsia é maior do que na população em geral e a regressão do comportamento social e linguagem ocorre em 30 por cento. Esta revisão analisou as evidências de que os paroxismos epileptiformes inerictais estão associados com a disfunção cognitiva transitória e discutiu as implicações destas observações nas anormalidades comportamentais autísticas. O DSM-IV-TR 9Diagnostic and Statistic Manual of Mental Disorders, Fourth Edition) e o CID 10 (Classificação Internacional das Doenças, 10 th edição) foram usados para caracterizar os transtornos invasivos do desenvolvimento. O banco de dados PubMed foi usado para revisar os artigos e resumos mais pertinentes. Em crianças com transtorno invasivo do desenvolvimento, as crises epilépticas ocorrem em aproximadamente 10-20 por cento e 8-10 por cento tem paroxismos epileptiformes sem crises clínicas. Trinta por cento das crianças com transtorno invasivo do desenvolvimento tem regressão do comportamento social e linguagem por volta dos 2-3 anos de idade, como observado em algumas encefalopatias epilépticas. Devido a estas analogias, alguns autores especulam que a regressão é causada pela atividade epileptiforme mesmo na ausência de crises clínicas e sugerem que a eliminação da atividade epileptiforme, clínica ou cirurgicamente, deveria levar a melhora do comportamento. Até o momento, não há evidência de que os paroxismos intericatis per se causem (ou contribuam para) o fenótipo comportamental complexo que é observado nos transtornos invasivos do desenvolvimento. Não há justificativa para o uso de drogas entiepilépticas ou cirurgia em crianças com transtornos invasivos do desenvolvimento sem crises, ou seja, não há evidência de que o tratamento dos paroxismos epileptiformes terão um efeito terapêutico nas anormalidades comportamentais dos transtornos invasivos do desenvolvimento

Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.

Subcortical band heterotopia (SBH) or double cortex syndrome is a neuronal migration disorder, which occurs very rarely in males: to date, at least 110 females but only 11 in males have been reported. The syndrome is usually associated with mutations in the doublecortin (DCX) (Xq22.3-q23) gene, and much less frequently in the LIS1 (17p13.3) gene. To determine whether the phenotypic spectrum, the genetic basis and genotype-phenotype correlations of SBH in males are similar to those in females, we compared the clinical, imaging and molecular features in 30 personally evaluated males and 60 previously reported females with SBH. Based on the MRI findings, we defined the following band subtypes: partial, involving one or two cerebral lobes; intermediate, involving two lobes and a portion of a third; diffuse, with substantial involvement of three or more lobes; and pachygyria-SBH, in which posterior SBH merges with anterior pachygyria. Karyo typing and mutation analysis of DCX and/or LIS1 were performed in 23 and 24 patients, respectively. The range of clinical phenotypes in males with SBH greatly overlapped that in females. MRI studies revealed that some anatomical subtypes of SBH, such as partial and intermediate posterior, pachygyria-SBH and diffuse bands with posterior predominance, were more frequently or exclusively present in males. Conversely, classical diffuse SBH and diffuse bands with anterior predominance were more frequent in females. Males had either mild or the most severe band subtypes, and these correlated with the over-representation of normal/borderline intelligence and severe mental retardation, respectively. Conversely, females who had predominantly diffuse bands exhibited mostly mild or moderate mental retardation. Seven patients (29%) had missense mutations in DCX; in four, these were germline mutations, whereas in three there was evidence for somatic mosaicism. A germline missense mutation of LIS1 and a partial trisomy of chromosome 9p were identified in one patient (4%) each. One male each had a possible pathogenic intronic base change in both DCX and LIS1 genes. Our study shows that SBH in males is a clinically heterogeneous syndrome, mostly occurring sporadically. The clinical spectrum is similar to that of females with SBH. However, the greater cognitive and neuroradiological heterogeneity and the small number of mutations identified to date in the coding sequences of the DCX and LIS1 genes in males differ from the findings in females. This suggests other genetic mechanisms such as mutations in the non-coding regions of the DCX or LIS1 genes, gonadal or somatic mosaicism, and finally mutations of other genes.

Clinical characteristics and surgical outcome of patients with temporal lobe tumors and epilepsy

This is a retrospective study of 21 surgically treated patients with temporal lobe tumors and epilepsy. Evaluation included clinical data, EEG findings, structural scans, pathological diagnosis and post-surgical follow-up. There were 9 cases of ganglioglioma, 5 pilocytic astrocytoma, 3 ganglioneuroma, 2 dysembryoplastic neuroepithelial tumor, 1 pleomorphic xantoastrocytoma, and 1 meningioangiomatosis. Mean follow-up time was 22 months and outcome was evaluated according to Engel's classification; 76.2 percent were classified in class I and 23.8 percent in II and III. All patients classes II and III had been submitted to mesial and neocortical resections. There were no differences related to clinical characteristics, pathological diagnosis or duration of follow-up in patients seizure-free or not. All patients had abnormal MRI and ten of these had normal CT; the MRI characteristics were compared to pathological diagnosis and specific histological characteristics of the tumors were not discernible by MRI. We concluded that MRI was essential for the diagnosis and precise location of TL tumors. Ganglioglioma was the most frequent tumor and lesionectomy associated to mesial resection doesn't guarantee a better prognosis