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.

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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.

-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 postsurgical 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% were classified in class I and 23.8% 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.KEY WORDS: epilepsy, temporal tumor, clinical aspects, surgical outcome, MRI.Características clínicas, de neuroimagem estrutural e prognóstico cirúrgico de pacientes com tumor do lobo temporal e epilepsia RESUMO -Este é um estudo retrospectivo de 21 pacientes com epilepsia e tumores do lobo temporal tratados cirurgicamente. A avaliação incluiu dados clínicos, eletrencefalográficos, de neuroimagem, anatomia patológica e seguimento pós-operatório. Eram 9 casos de ganglioglioma, 5 de astrocitoma pilocítico, 3 de ganglioneuroma, 2 de tumor neuroectodérmico disembrioplástico, 1 de xantoastrocitoma pleomórfico e 1 de meningoangiomatose. A média de tempo de seguimento pós-operatório foi 22 meses e o prognóstico foi avaliado de acordo com a classificação de Engel; 76,2% encontravam-se na classe I e o restante nas classes II e III. Todos os pacientes que se encontravam nas classes II e III haviam sido submetidos a ressecção do tumor e de estruturas mesiais temporais. Não encontramos diferenças entre os grupos quanto as características clínicas, histológicas e tempo de seguimento. Dez pacientes apresentavam TC normal; os achados na RM foram comparados ao diagnóstico patológico, mas não encontramos características específicas relacionadas ao tipo de tumor. O estudo por RM foi essencial para o diagnóstico e localização precisa da lesão. Ganglioglioma foi o tumor mais freqüente e lesionectomia associada a ressecção mesial não proporcionou melhor prognóstico. PALAVRAS-CHAVE: epilepsia, tumor do lobo temporal, clínica, prognóstico cirúrgico e ressonância magnética.New neuroimaging techniques, especially MRI, have allowed more frequent detection of structural abnormalities, such as discrete neuronal migration disorders, gliosis and slow growing tumors in patients with medically refractory epilepsy 1 . Small growing tumors ...

In a 7-year-old girl with epilepsia partialis continua (EPC) involving the left face, arm, and leg for 1 year, serial neuroimaging studies showed progressive, brain atrophy. Because medical treatment was ineffective, she underwent a large fronto-temporal surgical resection. Neuropathological examination showed loss of lamination and dysplastic neurons, gliosis, microglial nodules, and perivascular cuffing. Such "double pathology" (dysgenesia and a chronic inflammatory process) may have implications for the pathophysiology of Rasmussen's syndrome.

Rasmussen's syndrome is a progressive childhood disease of unknown cause characterized by severe epilepsy, hemiparesis, mental deterioration, inflammation of one cerebral hemisphere, and brain atrophy. Computed tomography, single-photon emission computed tomography (SPECT), and magnetic resonance (MR) neuroimaging findings of 8 patients with pathologically confirmed Rasmussen's syndrome were evaluated retrospectively. All patients showed a predominance of the atrophy in the temporoinsular region and cerebral hemispheric alterations on MR images in a similar extension as seen on SPECT studies. Focal increase in regional cerebral blood flow was observed in the 4 patients presenting with epilepsia partialis continua at the time of hexamethylpropyleneamineoxime injection. Extensive cortical hypoperfusion was noted in the other 4 patients who received the injection during the interictal state. Cerebellar functional abnormalities were present in 6 patients, 2 of them with structural damage.

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.

SUMMARYPurpose: 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.