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Intractable Seizures (intractable + seizures)
Selected AbstractsAngiocentric glioma: A case report and review of the literatureDIAGNOSTIC CYTOPATHOLOGY, Issue 6 2010Ryan T. Mott M.D. Abstract Angiocentric glioma (AG) is a rare central nervous system (CNS) neoplasm that was only recently recognized by the World Health Organization (WHO). AG occurs in a broad age range, shows no gender predilection, and arises superficially in the cerebrum, usually resulting in medically intractable seizures. Most cases are cured by surgical excision alone, consistent with a WHO grade I neoplasm. We report a case of an AG in the right frontal lobe of a 57-year-old female, emphasizing the cytologic and immunohistochemical features, including confirmation and comparison with the surgical specimen. To our knowledge, this is the first report detailing the cytology of AG, including demonstration of important diagnostic findings that were only appreciated in the cytologic preparations and not in the smears or the surgical specimen. We also compare and contrast AG to other entities in the differential diagnosis and include a review of the literature. Diagn. Cytopathol. 2010. © 2009 Wiley-Liss, Inc. [source] Surgery for temporal lobe epilepsy associated with mesial temporal sclerosis in the older patient: A long-term follow-upEPILEPSIA, Issue 6 2010Michael Murphy Summary Purpose:, To assess the outcomes from temporal lobectomy for hippocampal sclerosis in patients 50 years or older. Controversy exists as to the suitability of older patients for epilepsy surgery, with most of the previous studies demonstrating a correlation between increasing age and poor outcome. However, the inclusion of temporal lobe epilepsy of multiple etiologies has confounded many previous studies of this age group. Methods:, Twenty-one patients aged 50 years or older (mean 54.9 years) at the time of surgery were included in the study group. All patients had a pathologic diagnosis of hippocampal sclerosis. A retrospective analysis was performed comparing seizure outcomes following a standardized anterior temporal lobectomy with those from 103 patients younger than 50 (mean age 34.7 years) operated upon over the same time period. The mean follow-up period for the study was 9.57 years. Results:, Twenty of the 21 patients in the older group (95.2%) had a satisfactory seizure outcome (Engel classes I and II) compared with 90.3% of the younger patients. There was no statistically significant difference in the outcomes between the two groups (p = 0.719). Across both groups of patients combined, there was no significant difference between the mean age in the patients with a satisfactory seizure outcome compared to those with an unsatisfactory outcome (38.3 vs. 34.7 years, p = 0.213). Discussion:, Patients 50 years or older with intractable seizures from hippocampal sclerosis have seizure outcomes following temporal lobectomy that are comparable to young patients over the long term. Older patients should not be denied treatment on the basis of age. [source] ,-[11C]methyl-L-tryptophan uptake in patients with periventricular nodular heterotopia and epilepsyEPILEPSIA, Issue 5 2008Jun Natsume Summary Background:,-[11C]methyl-L-tryptophan (,-MTrp) positron emission tomography (PET) is a promising tool in the localization of the epileptogenic area in selected group of focal epilepsy patients. Electrophysiological evidence suggests the involvement of the neocortex in periventricular nodular heterotopia (PVNH). Purpose: To determine whether ,-MTrp PET can detect neocortical changes in patients with PVNH. Methods: Four patients (2 male, mean age 28, range 23,35 years) with PVNH and intractable seizures were studied. The functional image in each patient was compared with those from 21 healthy controls (mean age 34.6 ± 14.2 years) by using statistical parametric mapping (SPM). The location of increased ,-MTrp uptake was compared with the location of the EEG focus. A significant cluster was defined as a cluster with a height p = 0.005 and an extent threshold 100. Results:,-MTrp PET revealed increased cortical uptake in two of four patients. The area of increased ,-MTrp uptake in one patient was widespread. In the other patient, the area of increased uptake did not include the region where most seizures were generated on EEG. ,-MTrp PET did not show increased uptake in the heterotopic nodules in any of the patients. Conclusions:,-MTrp PET suggests abnormal metabolism of tryptophan in the neocortex. The increased uptake may be diffuse and may not co-localize with the EEG focus. This preliminary study suggests that ,-MTrp PET may be useful, in conjunction with other evaluations, in localizing epileptic focus in patients with PVNH and refractory seizures. [source] A Distinct Asymmetrical Pattern of Cortical Malformation: Large Unilateral Malformation of Cortical Development with Contralateral Periventricular Nodular Heterotopia in Three Pediatric CasesEPILEPSIA, Issue 8 2005Annapurna Poduri Summary:,Purpose: To describe a distinct asymmetrical pattern of cortical malformation with large focal malformations of cortical development (MCDs) and contralateral periventricular nodular heterotopia (PNH). Methods: We identified three patients with epilepsy and focal EEG abnormalities. Each patient underwent 1.5-Tesla magnetic resonance imaging (MRI) to obtain sagittal T1 -weighted, axial fluid-attenuated inversion recovery (FLAIR), fast spin-echo (FSE) T2 -weighted, and coronal fast spin-echo inversion recovery (FSEIR) T2 -weighted images; coronal spoiled gradient recalled (SPGR) T1 -weighted images were obtained in two cases. Results: Patient 1, an 18-year-old right-handed man, had a 4-year history of intractable seizures. MRI revealed a right frontal subcortical heterotopia (SH) and a single left anterior PNH. Patient 2, a 10-year-old left-handed boy, had a 4-year history of epilepsy. MRI revealed a large region of SH in the left temporal, parietal, and occipital lobes and three right-sided PNH. Patient 3, a 16-month-old girl, had medically refractory infantile spasms. MRI revealed a large MCD in the left parietal lobe with contiguous underlying periventricular heterotopia as well as a small contralateral PNH. Conclusions: These cases together illustrate a distinct asymmetrical pattern of a large focal MCD with small contralateral PNH. The asymmetrical involvement of the two hemispheres suggests that the stage of maximal disruption of cortical development may differ between the two hemispheres. Further study into the mechanisms underlying such asymmetrical patterns of cortical malformation should enhance our understanding of cortical development as well as hemispheric lateralization. [source] High-resolution MRI Enhances Identification of Lesions Amenable to Surgical Therapy in Children with Intractable EpilepsyEPILEPSIA, Issue 8 2004Monisha Goyal Summary:,Purpose: Many children with refractory epilepsy can achieve better seizure control with surgical therapy. An abnormality on magnetic resonance imaging (MRI), along with corroborating localization by other modalities, markedly increases chances of successful surgical outcome. We studied the impact of high-resolution MRI on the surgical outcome of intractable epilepsy. Methods: High-resolution MRI using four-coil phased surface array was obtained as part of the comprehensive presurgical protocol for children with focal onset intractable seizures evaluated by our epilepsy center during the first half of 2002. Results: Thirteen consecutive children, ages 5 to 18 years, entered this prospective study. For four patients with a lesion on a recent MRI examination with a standard head coil, management did not change with high-resolution MRI. Standard MRI in the other nine patients did not identify a lesion. However, high-resolution MRI with the phased-array surface coil found previously undiagnosed focal abnormalities in five of nine patients. These abnormalities included hippocampal dysplasia, hippocampal atrophy, and dual pathology with frontal cortical dysplasia. In four of nine patients, no identifiable lesion was identified on the high-resolution MRI. All patients underwent invasive monitoring. In three of five patients, newly diagnosed lesions correlated with EEG abnormalities, and resection was performed. Conclusions: In our center, high-resolution MRI identified lesions not detected by standard MRI in more than half the children (56%). Technical advances such as four-coil phased surface array MRI can help identify and better delineate lesions, improving the diagnosis of patients who are candidates for surgical treatment of refractory epilepsy. [source] Genital Automatisms: A Video-EEG Study in Patients with Medically Refractory SeizuresEPILEPSIA, Issue 7 2004Judith Dobesberger Summary:,Purpose: Genital automatisms (GAs) are rare clinical phenomena during or after epileptic seizures. They are defined as repeated fondling, grabbing, or scratching of the genitals. The anatomic correlates of GAs have been discussed controversially. The aim of this investigation was to assess the localizing and lateralizing value of GAs. Methods: The authors studied 207 consecutive patients with intractable seizures referred to a University Hospital for presurgical evaluation between 1998 and 2002: 135 had temporal lobe epilepsy (TLE); 23, frontal lobe epilepsy (FLE); 29, generalized epilepsies (GEs); and 20 had extratemporal or multifocal epilepsy. Results: Twenty-three (11%) of 207 patients showed GAs in 42 (3%) of 1,299 seizures. GAs occurred significantly more often in men (17 of 93, 18%) than in women (six of 114, 5%; p = 0.0037). Twenty-one (16%) of 135 patients with TLE performed GAs, one (4%) of 23 with FLE and one (3%) of 29 with GE. GAs were associated with unilateral hand automatisms in 16 (70%) of 23 and with periictal urinary urge in five (22%) of 23. All patients had amnesia for the performance of GAs. Conclusions: GAs appear in the ictal or postictal period with impaired consciousness. Men exhibit GAs significantly more often than do women. GAs do not localize or lateralize per se, but may localize seizure onset in the presence of periictal urinary urge or unilateral hand automatisms. They show a tendency to occur more often in TLE. [source] Seizure Suppression by Adenosine A1 Receptor Activation in a Mouse Model of Pharmacoresistant EpilepsyEPILEPSIA, Issue 7 2003Nicolette Gouder Summary: Purpose: Because of the high incidence of pharmacoresistance in the treatment of epilepsy (20,30%), alternative treatment strategies are needed. Recently a proof-of-principle for a new therapeutic approach was established by the intraventricular delivery of adenosine released from implants of engineered cells. Adenosine-releasing implants were found to be effective in seizure suppression in a rat model of temporal lobe epilepsy. In the present study, activation of the adenosine system was applied as a possible treatment for pharmacoresistant epilepsy. Methods: A mouse model for drug-resistant mesial temporal lobe epilepsy was used, in which recurrent spontaneous seizure activity was induced by a single intrahippocampal injection of kainic acid (KA; 200 ng in 50 nl). Results: After injection of the selective adenosine A1 -receptor agonist, 2-chloro- N6 -cyclopentyladenosine (CCPA; either 1.5 or 3 mg/kg, i.p.), epileptic discharges determined in EEG recordings were completely suppressed for a period of ,3.5 h after the injections. Seizure suppression was maintained when 8-sulfophenyltheophylline (8-SPT), a non,brain-permeable adenosine-receptor antagonist, was coinjected systemically with CCPA. In contrast, systemic injection of carbamazepine or vehicle alone did not alter the seizure pattern. Conclusions: This study demonstrates that activation of central adenosine A1 receptors leads to the suppression of seizure activity in a mouse model of drug-resistant epilepsy. We conclude that the local delivery of adenosine into the brain is likely to be effective in the control of intractable seizures. [source] Cognitive Skills in Children with Intractable Epilepsy: Comparison of Surgical and Nonsurgical CandidatesEPILEPSIA, Issue 6 2002Mary Lou Smith Summary: ,Purpose: To compare neuropsychological performance of two groups of children with intractable epilepsy: those who are surgical candidates, and those who are not. Methods: Intelligence, verbal memory, visual memory, academic skills, and sustained attention were measured in children aged 6,18 years. The effects of number of antiepileptic drugs (AEDs), seizure frequency, age at seizure onset, and duration of seizure disorder were examined. Results: Both groups had high rates of impairment. Group differences were found only on the verbal memory task. Children who experienced seizures in clusters had higher IQ, reading comprehension, and arithmetic scores. Age at seizure onset and proportion of life with seizures were related to IQ. Performance did not vary with AED monotherapy versus polytherapy. Conclusions: Few differences exist in cognitive performance between children with intractable seizures who are and those who are not surgical candidates. These findings suggest that children who are not surgical candidates can serve as good controls in studies on cognitive outcome of surgery. [source] Ictal EEG Patterns in Band HeterotopiaEPILEPSIA, Issue 4 2002Arthur C. Grant Summary: Band heterotopia (BH) or "double cortex" syndrome is a neuronal migration disorder resulting in a diffuse band of subcortical grey matter and variable abnormality of the overlying cortex. Patients with BH have a spectrum of psychomotor delay and seizures. Associated epileptic syndromes and interictal EEG findings have been described, but ictal EEG patterns are lacking. Methods: We describe the clinical, interictal, and ictal EEG findings in two girls with BH and intractable seizures. Results: Ictal EEG patterns correlated well with clinical seizure types, and did not have features unique to BH. Similarly, seizure behaviors and interictal EEG findings were typical of those seen in symptomatic generalized epilepsies. Conclusions: Despite evidence implicating the ectopic grey matter in seizure discharges, we conclude that seizure semiology and associated ictal EEG patterns in BH are no different from those seen in other causes of symptomatic generalized epilepsies. [source] Operative Results without Invasive Monitoring in Patients with Frontal Lobe Epileptogenic LesionsEPILEPSIA, Issue 10 2001A. Mariottini Summary: ,Purpose: To further explore the still controversial issues regarding whether all or most candidates for epilepsy surgery should be investigated preoperatively with invasive long-term video-EEG monitoring techniques (ILTVE). Methods: We studied five patients with intractable seizures since early childhood using the same protocol: clinical evaluation, magnetic resonance imaging (MRI) with fluid-attenuated inversion recovery (FLAIR) sequences, long-term video-EEG (LTVE) monitoring with scalp electroencephalogram (EEG), interictal single photon emission computed tomography (SPECT), positron emission tomography (PET), and neuropsychological testing. The patients' seizures had clinical features suggesting a frontal lobe (FL) origin. MRI scans revealed focal cortical dysplasia (CD) in four patients and a probable gliotic lesion in the fifth. The findings in both PET and SPECT images were congruent with those of the MRI. Scalp LTVE failed to localize the ictal onset, although the data exhibited features suggestive of both CDs and FL seizures. On the basis of these results, surgery was performed with intraoperative corticography, and the cortical area exhibiting the greatest degree of spiking was ablated. Results: Histopathologic study of four of the resected specimens confirmed the presence of CD, whereas in the fifth, there were features consistent with a remote encephaloclastic lesion. There were no postoperative deficits. Seizures in three of the patients were completely controlled at 2,3.5 years of follow-up; a fourth patient is still having a few seizures, which have required reinstitution of pharmacotherapy, and the fifth has obtained 70% control. All patients have had significant improvement in psychosocial measures. For comparison, five patients with generally similar clinical and neuroradiologic features to the previous group underwent preoperative ILTVE monitoring. The surgical outcomes between the two groups have not differed significantly. Conclusions: We conclude that patients with FL epilepsies may be able to undergo successful surgery without preoperative ILTVE monitoring, provided there is high concordance between neuroimaging tests (MRI, SPECT, PET) and the seizure phenotypes, even when routine EEGs and scalp LVTE fail to localize ictal onset unambiguously. The surgical outcomes of these patients generally paralleled those of the other subjects who also had FL epilepsy but who were operated on only after standard ILTVE monitoring. [source] A Possible Role for Gap Junctions in Generation of Very Fast EEG Oscillations Preceding the Onset of, and Perhaps Initiating, SeizuresEPILEPSIA, Issue 2 2001Roger D. Traub Summary: ,Purpose: We propose an experimentally and clinically testable hypothesis, concerning the origin of very fast (>,70 Hz) EEG oscillations that sometimes precede the onset of focal seizures. These oscillations are important, as they may play a causal role in the initiation of seizures. Methods: Subdural EEG recordings were obtained from children with focal cortical dysplasias and intractable seizures. Intra- and extracellular recordings were performed in rat hippocampal slices, with induction of population activity, as follows: (a) bath-applied tetramethylamine (an intracellular alkalinizing agent, that opens gap junctions); (b) bath-applied carbachol, a cholinergic agonist; and (c) focal pressure ejection of hypertonic K+ solution. Detailed network simulations were performed, the better to understand the cellular mechanisms underlying oscillations. A major feature of the simulations was inclusion of axon,axon gap junctions between principal neurons, as supported by recent experimental data. Results: Very fast oscillations were found in children before seizure onset, but also superimposed on bursts during the seizure, and on interictal bursts. In slice experiments, very fast oscillations had previously been seen on interictal-like bursts; we now show such oscillations before, between, and after epileptiform bursts. Very fast oscillations were also seen superimposed on gamma (30,70 Hz) oscillations induced by carbachol or hypertonic K+, and in the latter case, very fast oscillations became continuous when chemical synapses were blocked. Simulations replicate these data, when axonal gap junctions are included. Conclusions: Electrical coupling between principal neurons, perhaps via axonal gap junctions, could underlie very fast population oscillations, in seizure-prone brain, but possibly also in normal brain. The anticonvulsant potential of gap-junction blockers such as carbenoxolone, now in clinical use for treatment of ulcer disease, should be considered. [source] Abnormal Wada and Neuropsychological Testing Results Due to Topiramate TherapyEPILEPSIA, Issue 7 2000Paul H. McCabe Summary: A 46-year-old man experienced intractable seizures since childhood. Due to lack of response to antiepilepsy drugs (AEDs), he underwent a surgical evaluation that was consistent with seizure onset in the left medial temporal lobe. While on topiramate and carbamazepine, his preoperative neuropsychological scores and sodium amytal (Wada) scores were low and may have excluded him from surgery. Repeat testing on lamotrigine and carbamazepine showed improvement in his scores, allowing him to undergo surgery. Physicians must therefore be cautious in evaluating such test scores while a patient is on topiramate. [source] Hypomelanosis of ITO Associated with Precocious PubertyJOURNAL OF CUTANEOUS PATHOLOGY, Issue 1 2005B. M. Rutland Background: There are only two reported cases of hypomelanosis of Ito (HI) associated with precocious puberty. Here we report a third case, and the first one to be autopsied. Design: A 5-year-old female with HI, intractable seizures and mental retardation presented with gray vaginal discharge and bacterial vaginosis. The patient subsequently died from neurologic complications and was autopsied. Results: Post-mortem examination revealed pigmentary mosaicism following the lines of Blaschko and advanced development of vulvar labia, pubic hair, and breast buds. Other significant autopsy findings included conical teeth, patchy alopecia, macrosomia (body weight and height above 95th percentile), and macrocephaly with megalencephaly (brain 1850 g). The uterus and ovaries were unremarkable. Epidermis had decreased melanocytes in hypopigmented areas. Skin fibroblast karyotype was normal. Conclusion: The two previous case reports indicate that the mechanism for precocious puberty in HI may be either biochemical, as in McCune-Albright Syndrome, or independent of GnRH. The mechanism of the precocious puberty in our case is most likely central. [source] Anaesthesia for magnetoencephalography in children with intractable seizuresPEDIATRIC ANESTHESIA, Issue 9 2003Peter Szmuk MD Summary Background Magnetoencephalography (MEG), a noninvasive technique for evaluation of epileptic patients, records magnetic fields during neuronal electrical activity within the brain. Anaesthesia experience for MEG has not yet been reported. Methods We retrospectively reviewed records of 48 paediatric patients undergoing MEG under anaesthesia. Thirty-one patients (nonprotocol group) were managed according to the anaesthesiologist's discretion. Premedication included oral midazolam, chloral hydrate or fentanyl oralet, intravenous midazolam or inhalational anaesthesia with sevoflurane. Anaesthesia was maintained with propofol, midazolam, fentanyl, alone or in combination. A subsequent protocol group (17 patients) received chloral hydrate as premedication and propofol for maintenance of anaesthesia. Results There was an overall 25% failure of interictal activity and localization on the MEG scan. In the nonprotocol group, 11 scans failed (35.5%). Of these, eight (72.7%) received midazolam orally. Only one failure (5.8%) was recorded in the protocol group in a patient who received chloral hydrate as sedation supplemented by sevoflurane. Conclusions In our experience, midazolam premedication resulted in a high MEG failure rate (73%). Chloral hydrate premedication and propofol maintenance resulted in a lower incidence of MEG failure (5.8%). General anaesthesia with a continuous infusion of propofol or sevoflurane appears acceptable, although, lighter levels of anaesthesia might be required to avoid interference with interictal activity of the brain. [source] Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosisPRENATAL DIAGNOSIS, Issue 5 2002J. L. Johnson Abstract Isolated sulfite oxidase deficiency is an autosomal recessive, neurological disorder resulting from a defect in SUOX, the gene encoding the enzyme that catalyzes the terminal reaction in the sulfur amino acid degradation pathway. In its classical, severe form, sulfite oxidase deficiency leads to intractable seizures, severe and progressive brain pathology and death at an early age. We report here on clinical features and mutational analysis of the genetic defect in a newborn with sulfite oxidase deficiency. Cultured fibroblasts from this patient exhibited no detectable sulfite oxidase activity, and a unique four base pair deletion was present in the cDNA isolated from the same source. Identification of the same genetic defect in a heterozygous state in each of the parents and the monitoring of subsequent pregnancies in this family by DNA-based prenatal diagnosis are also described. The deletion mutation was identified in a homozygous state in uncultured chorionic villus tissue from the second pregnancy that was subsequently terminated. In the third pregnancy, the presence of sulfite oxidase activity and identification of the mutation in a heterozygous state suggested that the fetus was not affected. This pregnancy resulted in the birth of a normal child. Copyright © 2002 John Wiley & Sons, Ltd. [source] West syndrome and mitochondrial diabetes: relationship or coincidence?CLINICAL ENDOCRINOLOGY, Issue 1 2002B. Bouhanick Summary West syndrome occurs in infancy and in early childhood. It is characterized by intractable seizures occurring almost daily, severe psychomotor retardation, poor prognosis and EEG abnormalities, known as hypsarrhythmia. We report here the case of a 28-year-old patient, who was diagnosed with West syndrome when he was 8 months old and with diabetes mellitus when he was 25 years old. Sequencing analyses and restriction analyses were suggestive of mitochondrial diabetes. Four years after the diagnosis of diabetes, this patient's diabetes is still controlled by diet and biguanides. [source] Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literatureCLINICAL GENETICS, Issue 4 2009C Nemos The CDKL5 gene has been implicated in the molecular etiology of early-onset intractable seizures with infantile spasms (IS), severe hypotonia and atypical Rett syndrome (RTT) features. So far, 48 deleterious alleles have been reported in the literature. We screened the CDKL5 gene in a cohort of 177 patients with early-onset seizures, including 30 men and 10 girls with Aicardi syndrome. The screening was negative for all men as well as for women with Aicardi syndrome, excluding the CDKL5 gene as a candidate for this neurodevelopmental disorder. We report 11 additional de novo mutations in CDKL5 in female patients. For the first time, the MLPA approach allowed the identification of a partial deletion encompassing the promoter and the first two exons of CDKL5. The 10-point mutations consist of five missenses (with recurrent amino acid changes at p.Ala40 and p.Arg178), four splicing variants and a 1-base pair duplication. We present a review of all mutated alleles published in the literature. In our study, the overall frequency of mutations in CDKL5 in women with early-onset seizures is around 8.6%, a result comparable with previous reports. Noteworthy, the CDKL5 mutation rate is high (28%) in women with early-onset seizures and IS. [source] | |||||||||||||