We report a boy with rigidity and hyperekplexia or startle disease which began in adolescence. His symptoms completely resolved with valproic acid therapy. Two relatives have the minor form of this disorder, suggesting autosomal dominant inheritance with variable penetrance.

Adolescent↗

PubMedDate not supplied

Regional cerebral glucose metabolism differs in adult and rigid juvenile forms of Huntington disease.

A 7-year-old girl with the juvenile form of Huntington disease is described. She had personality changes, speech and gait disturbances, diffuse rigidity, dementia, and a well-documented family history of Huntington disease. Electroencephalography revealed bilateral epileptic foci; however, she had no seizures. Positron emission tomography using [18F]-2-fluoro-2-deoxy-D-glucose with an improved method for quantification of glucose metabolism in anatomically defined regions of interest demonstrated marked hypometabolism in the caudate nuclei and putamen, as is observed in adults with the disease. Glucose metabolism was also reduced in the posterior nuclei of the thalamus. Adults with Huntington disease have consistently demonstrated normal or increased rates of thalamic glucose metabolism. The findings suggest that brain metabolic alterations of Huntington disease in children differ from those in adults which is consistent with the postmortem pathologic differences previously recognized.

Adult↗

PubMedDate not supplied

MRI of amygdala and hippocampus in temporal lobe epilepsy.

In this study we compared the results of qualitative visual analysis of MRI with volumetric studies of the amygdala (AM) and hippocampal formation (HF) in a group of 31 patients. Twenty-six patients with temporal lobe epilepsy (TLE) and six with non-TLE had MRI studies using a 1.5 T Gyroscan following a specific protocol for scan acquisition. The MR images were interpreted by two blinded radiologists and by a third if discrepancy arose. Volumetric studies were carried out by one or two raters. The volumetric measurements of AM and HF were accurate in lateralizing the epileptogenic area in patients with TLE, concordant with the EEG in 92%; there was no false lateralization. In those patients who underwent surgery, there was a correlation between the degree of mesial temporal sclerosis demonstrated by histopathology, the amount of volume reduction, and the asymmetry. In patients with non-TLE, there was no volume asymmetry of AM or HF. The MR qualitative assessment yielded positive lateralization in patients with TLE in 56%, conflicting lateralization in 20%, and lateralization contralateral to the focus in 12%. A hyperintense signal in mesial structures was found ipsilateral to the focus in 40% and contralateral in 12% of patients with TLE. Volumetric study improves the diagnostic yield of MRI evaluation in patients with TLE not related to gross structural lesions. The interrater variability is low and the data are accurate and reproducible. Because they are quantitative, volumetric studies permit better comparison of results in different subgroups of patients with TLE.

Adolescent↗

PubMedDate not supplied

Prolonged focal cerebral edema associated with partial status epilepticus.

Following several days of partial status epilepticus, three patients developed striking focal cerebral edema as demonstrated by computed axial tomography (CT) scan. An angiogram done in one patient showed a capillary blush and early cortical draining veins in the corresponding area. All patients developed severe focal neurological deficit which resolved as the edema improved, and this was demonstrated on serial CT scans (at 6 months, 1 month, and 2 months, respectively). In the first patient, an underlying tumor, and in the second and third, vascular occlusions, were suspected because we were not aware that edema due to status epilepticus could produce changes of such intensity and duration. The neurological disability after the partial status was long-lasting but reversed completely in our patients. Maximal radiological changes occurred in the area of maximal epileptic discharge. Minimal atrophic changes persisted in two of the three patients. The clinical, CT scan, and angiographic findings suggest that partial status epilepticus can be associated with abnormal vascular permeability leading to prolonged focal cerebral edema. Similar pathophysiology of lesser intensity may be responsible for shorter postictal neurological deficits. Awareness of this clinical and radiological entity should avoid misdiagnosis of cerebral tumor or infarction.

Adolescent↗

PubMedDate not supplied

Timing of seizure recurrence in adult epileptic patients: a statistical analysis.

Seizure diaries were maintained prospectively in 24 epileptic patients (19 with partial complex, three with partial simple, and three with primary generalized seizures) who were selected consecutively, had stable seizure patterns, were reliable historians, and were known to be compliant with medications. Diaries were maintained for an average of 237 days (range, 61-365), and an average of 18 seizures were recorded per patient (range, 5-76). Seizure patterns were analyzed by using the methods appropriate for a time series of events (point process). Two patients had a decreasing trend in seizure frequency. For 12 patients, seizure occurrence was indistinguishable from that of a Poisson process. The remaining 10 patients had an exponential distribution of seizure intervals, but did not fit other criteria for a Poisson process; 3 of these showed evidence for seizure clustering; none showed evidence for a seizure cycle. It is concluded that the pattern of seizure occurrence in most epileptic people is random, but in approximately 50%, it is not occurring according to a Poisson process. These observations indicate that seizure cycling and/or clustering are not common in epileptic patients, but do not exclude the possibility that seizures have been precipitated by some randomly occurring event, such as sleep deprivation or increased stress.

Adolescent↗

PubMedDate not supplied

Postictal psychosis after partial complex seizures: a multiple case study.

Bouts of unusually frequent partial complex seizures originating in the temporal lobe, that sometimes became secondarily generalized, induced psychotic episodes in 9 patients. In 7, the increase in seizures occurred at a time when antiepileptic drugs (AEDs) were being reduced during intensive EEG monitoring with a view to surgical treatment of intractable epilepsy. According to DSM-III-R criteria, the postictal psychosis resembled an organic delusional syndrome which was paranoid in 7 and schizophreniform in 1 and an organic mood syndrome in 1. A high incidence of ictal fear, of bilateral independent epileptogenic discharge, and of small foreign tissue lesion were unexpected findings and appeared to represent risk factors, especially in patients otherwise handicapped by an epileptic personality disorder. Recognition of postictal psychosis in this setting and in others is important both prognostically and therapeutically. Postictal psychosis does not constitute a contraindication to surgical treatment of epilepsy.

Adult↗

PubMedDate not supplied

Excitatory amino acids modulate phosphoinositide signal transduction in human epileptic neocortex.

Stimulation of phosphoinositide (PI) hydrolysis by norepinephrine (NE), carbachol (Carb), and excitatory amino acids (EAAs) was measured in slices prepared from neocortex excised during epilepsy surgery. NE and Carb markedly enhanced PI turnover (EC50: NE, 12 microM; Carb, 661 microM) as reflected by [3H]inositol monophosphate (IP1) accumulation in tissue slices prelabeled with [3H]myoinositol. These effects were dose-dependent, saturable, and five to six times higher than basal IP1 accumulation. A weaker stimulation (twofold) was observed with quisqualate (QUIS; EC50, 1.1 microM) and glutamate (GLU; EC50, greater than 1 mM), while minimal or no stimulation was seen with kainate (KA) and N-methyl-D-aspartate (NMDA). Agonist-stimulated PI turnover was significantly reduced in samples from actively spiking epileptic neocortex versus nonspiking areas as defined by electrocorticography (NE, -23%, p less than 0.05; Carb, -44%, p less than 0.01). Preincubation of slices with various EEAs inhibited Carb-induced IP1 formation. The maximal extent of inhibition (1 mM) was both amino acid-dependent (IC50: NMDA, 5 microM; KA, 3.3 microM; QUIS, 47 microM; GLU, greater than 1 mM). These data suggest that epileptic activity modulates PI metabolism and alters receptor-effector coupling. As important mediators of epileptogenesis, EAAs may interfere++ with the efficiency of this second messenger system.

Carbachol↗

PubMedDate not supplied

Temporal lobe epilepsy after prolonged febrile convulsions: excellent outcome after surgical treatment.

We studied 47 consecutive patients who underwent temporal resection for seizure control. Nineteen (40%) had febrile convulsions preceding onset of their habitual seizures. In 17 of 18 patients whose disease duration was known, the febrile convulsions were prolonged (mean 4 h). As compared with patients without preceding febrile convulsions, patients with antecedent febrile convulsions had a significantly higher prevalence of positive family history of febrile convulsions, an increased incidence of retrospectively identified gestational or perinatal complications, and no foreign tissue lesions. Pathologic studies showed gliosis and cell loss in mesiotemporal structures, usually moderate, in addition to usually mild gliosis in lateral temporal cortex. These patients had an excellent outcome after temporal resection: 84% were seizure-free, had residual auras only, or occasional convulsions with medication discontinuation. One patient (5%) had > 90% improvement. Two patients (11%) in whom the hippocampus was totally spared continued to have complex partial seizures: in both, seizures stopped after reoperation and hippocampal resection. Thus, 95% of these patients had an excellent result. Only 16% required invasive preoperative studies to confirm lateralization. These results were significantly better than those of the group without preceding febrile convulsions (p = 0.0013).

Adolescent↗

PubMedDate not supplied

Occipitotemporal epilepsies: evaluation of selected patients requiring depth electrodes studies and rationale for surgical approaches.

In 8 patients in whom it was uncertain whether they had occipital or temporal lobe (TL) epilepsy, clinical, scalp EEG, and radiologic features were correlated with the sites of seizure onset as determined by depth EEG. The 8 patients were selected from > 40 with occipital epilepsy because they had (a) an aura considered to be of occipital lobe (OL) origin, (b) an occipital interictal epileptic focus, (c) an OL lesion, or (d) a combination of all of these. Scalp EEG and clinical patterns suggested temporal involvement in all, however. Extracranial EEG recordings were often misleading, showing multilobar interictal epileptic abnormalities, and seizure onset was of poor localizing value and did not clarify the problem sufficiently. Intracranial EEG recordings showed that seizure onset could be ordered along an occipitotemporal gradient. Consistent OL seizure onset was observed in patients who had only elementary visual auras. Those who had inconsistent aura or no aura, suggesting OL origin, had onset of most attacks in the TL. All patients had a seizure spread pattern suggesting early TL involvement. To prevent visual field defect, surgical approaches included temporal resection when temporal seizure origin or spread was demonstrated; although occasionally this produced excellent results, it was of limited benefit in most patients, even when some seizures were proven to originate in TL structures. In patients with malignant epilepsy and in those with an occipital lesion, occipital resection should be considered.

Adolescent↗

PubMedDate not supplied

Surgical treatment of children with medically intractable frontal or temporal lobe epilepsy: results and highlights of 40 years' experience.

Etiologic, pathologic, and clinical features of possible prognostic significance were studied in 118 children who underwent frontal or temporal lobe epilepsy surgery at the Montreal Neurological Institute (MNI) between 1940 and 1980 (excluding tumor cases). Mean age of seizure onset was 5.1 years (range 0-12 years), mean age at operation was 11.7 years (range 0.6-15 years), and median duration of follow-up was 15 years (range 2-31 years). Thirteen of 45 frontal surgery patients and 43 of 73 temporal surgery patients had an excellent outcome. In the frontal surgery group, this was restricted almost entirely to patients with an established etiology, particularly if this included a circumscribed resectable structural abnormality. In the temporal surgery group, a history of early, prolonged febrile seizures was usually associated with good outcome, unless there was additional evidence of extratemporal epilepsy. In the entire series, the presence of a nonresectable structural lesion or secondarily generalized seizures was associated with a poor outcome.

Child↗

PubMedDate not supplied

Psychosocial consequences of postoperative seizure relief.

To address the question of whether complete seizure relief has a positive effect on psychosocial functioning in patients with temporal lobe epilepsy, a follow-up study was conducted at the Montreal Neurological Institute. The approach was one of "before-after" study, with focus on the successfully operated patients, those in whom complete seizure relief was obtained. The Washington Psychosocial Seizure Inventory, specifically developed and validated for use with epilepsy patients, was used for psychosocial assessments. Of 30 surgically treated patients screened for the study, 15 gained complete relief from seizures. At 1-year postoperative follow-up, they showed reductions in their problems scores on all but one of eight psychosocial scales; the average reduction ranged from 24% in Vocational Adjustment to 60% in Adjustment to Seizures. In the areas of Emotional Adjustment and Interpersonal Adjustment reductions were 37 and 48%, respectively. Among the component items, improvement was greatest in ability to concentrate and make decisions, confidence in interpersonal skills, ability to express personal opinions, and perception by others. No appreciable changes occurred in the 15 patients who did not gain complete relief of seizures; indeed, on six of the eight scales they showed a modest increase in their problem scores. This study provides evidence that complete relief from seizures leads to appreciable improvements in psychosocial well-being, manifest as early as 1-year postoperatively, in young adult patients.

Adaptation, Psychological↗

PubMedDate not supplied

Seizures with onset in the sensorimotor face area: clinical patterns and results of surgical treatment in 20 patients.

It is not generally appreciated that intractable seizures involving the face area are amenable to surgical treatment. Twenty patients with onset of sensorimotor seizures in the face area of the pre- and postcentral gyri have been studied and surgically treated since 1948. Seizures started in the face, tongue, or throat, followed by diverse patterns depending on spread of seizure activity. Two patients had epilepsia partialis continua; 6 had either tonic or atonic drop attacks. All patients had pre- and postcentral face area resections, 12 in the dominant hemisphere. In addition, 3 had more extensive postcentral removal, 7 had temporal lobe, and 4 had small separate or contiguous frontal or parietal resection. Because the seizures were not sufficiently reduced by the first operation, 6 required reoperation; 4 of these patients had residual epileptiform activity on electrocorticogram (ECoG) after the first resection. Three patients had new neurologic signs that did not return to the preoperative level, but in 2 of them the deficit related mainly to higher resection in the central area. All but 2 of these 20 patients had at least moderate seizure reduction. Corticectomy can be performed for treatment of seizures arising in the lower central area and usually does not lead to significant permanent neurologic deficit.

Adolescent↗

PubMedDate not supplied

Effect of anterior callosotomy on bilaterally synchronous spike and wave and other EEG discharges.

We analyzed pre- and postoperative interictal and ictal EEG patterns in relation to seizure outcome in 29 patients with intractable epilepsy who had undergone anterior callosotomy. Twenty-two patients had generalized bilaterally synchronous sharp or spike and slow wave discharges (GSW) and 7 did not: Postoperatively, patients with preoperative GSW showed disruption of synchrony, increased amplitude asymmetry, and a decreased amount of GSW. No significant decrease was noted in the amount of total epileptic discharge after operation. There was a significant relation between seizure outcome and decrease in amount of GSW. The degree of disruption of synchrony, total amount of epileptic discharge, and pre- and postoperative EEG patterns were not good indicators of seizure outcome. Postoperative changes in lateralization of epileptic foci consisted either of increased lateralization, less lateralization but increased independent discharges in the previously nonpredominant hemisphere, or appearance of some lateralization. There appears to be a spectrum of GSW: Both secondary bilateral synchrony and secondarily generalized corticoreticular epileptic discharges are distributed along this spectrum.

Adult↗

PubMedDate not supplied

Prenatal events and genetic factors in epileptic patients with neuronal migration disorders.

Because disorders of neuronal migration to cerebral cortex in humans are believed to occur in the first half of gestation, prenatal events or genetic factors are suspected to have a pathogenetic role. We evaluated this by comparing the frequency of potentially harmful prenatal events and of genetic factors in a series of 40 patients (38 with epilepsy) with neuronal migration disorders (NMD) and in 40 epileptic controls, using a predetermined standardized questionnaire to minimize interviewer bias. Potentially harmful prenatal events (significant maternal physical trauma, ingestion of medications, exposure to roentgenograms, infections, uterine or metabolic abnormalities) were reported in the pregnancy histories of 58% of patients with NMD but in only 15% of epileptic controls (p = 0.0002). In contrast, peri- and postnatal potentially relevant etiologic factors were reported in the histories of only 22% of patients with NMD but in 50% of the epileptic controls (p = 0.01). Genetic factors (a family history of epilepsy, mental retardation, or congenital malformations of the CNS) were noted in 13 and 20% of the families, respectively. Stillbirths occurred only in the group with NMD, accounting for 3.06% of sibling pregnancies. The findings suggest that prenatal potentially harmful environmental events play a central role in the pathogenesis of NMD in humans.

Abortion, Spontaneous↗