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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report an infant who had successful epilepsy surgery for intractable infantile spasms in the setting of bilateral periventricular leukomalacia and remote germinal matrix hemorrhage. Although MRI gave evidence of a diffuse cerebral insult and EEG showed hypsarrhythmia, focal epileptogenicity was suggested by previous partial seizures with onset over the right temporoparietal-occipital region and PET hypometabolism in that same area. Right temporoparietal and lateral occipital resection at 15 months resulted in seizure freedom and dramatic developmental progress at 1-year follow-up. Histopathologic examination of resected tissue showed cortical dysplasia, possibly due to the same insult that also resulted in the bilateral periventricular leukomalacia. From an etiologic perspective, this is one of very few reported cases strongly implicating acquired focal cortical dysplasia in response to a prenatal insult. From a clinical perspective, the case illustrates that the spectrum of potential surgical candidacy in infants may be broader than usually suspected.
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PMID:Epilepsy surgery in the setting of periventricular leukomalacia and focal cortical dysplasia. 861 98

Cortical resection or hemispherectomy has been reported to result in cessation or dramatic reduction of seizures for small numbers of highly selected infants with severe, intractable epilepsy and developmental delay. However, identification of potential surgical candidates during infancy can be especially challenging because seizure semiology and EEG may sometimes give limited localizing information, e.g., in patients with infantile spasms and hypsarrythmia due to focal cortical dysplasia or a tumor. In infants as well as older patients, the location of a potentially resectable epileptogenic lesion must be defined by convergence of results from video EEG, anatomic and functional neuroimaging, and clinical examination. Reported outcomes after surgery in small series include 78% of 23 infants seizure-free or with at least 90% seizure reduction (1993 University of California at Los Angeles series), and 75% of 12 infants seizure-free or with rare seizures (1995 Cleveland Clinic series). A tendency of "catch-up" developmental progress after surgery was observed in both series. A few reports of smaller groups of infants noted similar results. Prospective studies are in progress to better define the potential risks and benefits of early surgical intervention for infants and catastrophic localization-related epilepsy.
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PMID:Surgery for catastrophic localization-related epilepsy in infants. 864 49

We demonstrate that isolated glycerol kinase (GK) deficiency in three families results from mutation of the Xp21 GK gene. GK mutations were detected in four patients with widely differing phenotypes. Patient 1 had a splice-site mutation causing premature termination. His general health was good despite absent GK activity, indicating that isolated GK deficiency can be silent. Patient 2 had GK deficiency and a severe phenotype involving psychomotor retardation and growth delay, bone dysplasia, and seizures, similar to the severe phenotype of one of the first described cases of GK deficiency. His younger brother, patient 3, also had GK deficiency, but so far his development has been normal. GK exon 17 was deleted in both brothers, implicating additional factors in causation of the severe phenotype of patient 2. Patient 4 had both GK deficiency with mental retardation and a GK missense mutation (D440V). Possible explanations for the phenotypic variation of these four patients include ascertainment bias; metabolic or environmental stress as a precipitating factor in revealing GK-related changes, as has previously been described in juvenile GK deficiency; and interactions with functional polymorphisms in other genes that alter the effect of GK deficiency on normal development.
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PMID:Mutations and phenotype in isolated glycerol kinase deficiency. 865 Dec 97

We present an autopsy case of Larsen-like syndrome with unusually severe neurologic complications. The patient, a 3-year-old girl, manifested severe psychomotor retardation, tetraplegia, and intractable partial seizures as well as multiple joint dislocations with other skeletal deformities, minor external anomalies, and laryngotracheomalacia. Neuropathological examination of the brain revealed (1) cortical dysgenesis in the bilateral perisylvian region; (2) protrusions of the brain parenchyma into the subarachnoid space, (3) abnormal arrangement of olivary neurons, (4) dilation of the lateral ventricles with subventricular gliosis and multiple glial nodules, (5) hypoplasia of the cerebral white matter with subcortical astrocytosis, and (6) necrotic change in Sommer sector of the hippocampus. There were no microscopic abnormalities in the mesenchymal tissue of the brain (i.e., vascular walls and the meninges). Cortical dysgenesis in the perisylvian region was characterized by a zonal heterotopia of pyramidal and granule neurons in the molecular layer, which clinically may be closely related to intractable partial seizures in the orofacial area. Findings 1, 2, and 3 may represent a disturbance of neuroblast migration, speculated to have occurred during the latest stage of migration (around 20-25 weeks gestation). There are few published reports describing the combination of Larsen-like syndrome and brain dysplasia. Correlation of brain dysplasia with congenital skeletal abnormalities is unclear in our patient. We speculate that systemic hypoxic-ischemic insults during the second half of gestation and/or some genetic factors might be possible causes of brain dysplasia.
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PMID:Brain dysplasia associated with Larsen-like syndrome. 865 25

Two cases of vascular malformations coexisting with other congenital defects of the central nervous system (CNS) are presented here. The first patient was a 14-year-old girl mentally retarded who demonstrated seizures and balance disturbances with onset in early infancy. The neuropathological examination revealed vascular malformations in the pons, diastematomyelia (triple central canal) in the sacral spinal cord and palleocerebellar granular layer dysplasia. The second patient was a 10-year-old boy hospitalized because of purulent dermatitis who suddenly developed recurrent generalized and focal motor seizures. The neuropathological examination disclosed multiple capillary teleangiectases with focal anomalies within cerebral cortex of the frontal and parietal lobes. The relations between several developmental anomalies in the CNS and possible causal relation between such malformations are discussed.
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PMID:Vascular malformations associated with other congenital anomalies of the central nervous system: coexistence and possible causal relations. 867 36

In this study, we determined whether childhood seizures were associated with hippocampal neuron loss and mossy fibre synaptic reorganization and if hippocampal sclerosis evolved from longer seizure histories. Children undergoing surgical treatment for catastrophic epilepsy were grouped into the following pathology categories: (i) those with generalized seizures and extra-hippocampal congenital pathologies (i.e. prenatal cortical dysplasia; n = 17); (ii) cases of generalized seizures and extra-hippocampal acquired lesions. (i.e. postnatal ischaemic injuries and encephalitis; n = 7); (iii) children with complex partial hippocampal epilepsy (n = 4). Further, to determine whether the epileptogenic location influenced hippocampal pathology, the seizure focus was classified as (i) hippocampal, (ii) temporal (n = 13) or (iii) extra-temporal (n = 11). Surgical and autopsy (n = 23) hippocampi were studied for (i) fascia-dentata (FD) and Ammon's horn (AH) neuron densities; (ii) thickness; height or length of the FD molecular layer, stratum granulosum (SG) and stratum pyramidale; and (iii) grey value (GV) densities of supragranular neo-Timm's staining. Statistically significant results (P < 0.05) showed the following. (i) Autopsy hippocampal neuron densities for the hilus (H), AH and prosubiculum (Pro) decreased logarithmically at the same time as the thickness of the stratum pyramidale and Pro increased. By contrast, autopsy granule cell densities and thickness did not significantly change with age; however, the SG lengthened-expanding around the enlarging H. Further, the supragranular molecular layer height increased logarithmically, and took longer than the increase in stratum pyramidale thickness. (ii) Compared with age-matched autopsies, young children with a history of hippocampal seizures showed decreased granule cell, hilar and regio superior neuron densities similar to adults with hippocampal sclerosis (average loss 70%). By contrast, children with extra-hippocampal congenital or acquired pathologies showed only decreased granule cell densities, along with a thinner and shorter SG. Compared with extra-temporal locations, those with temporal lobe lesions showed decreased hilar and AH neuron densities, but averaged 20-30% less than autopsies and not in the pattern typical of hippocampal sclerosis. (iii) The neo-Timm's GV densities, when compared with autopsies, showed supragranular mossy fibre sprouting in children with congenital pathologies and temporal lobe lesions; however, the greatest GVs were in children with hippocampal seizures. (iv) Of the children with extra-hippocampal congenital or acquired pathologies there were no statistical correlations between longer duration of seizures with changes in neuron densities, hippocampal heights, or mossy fibre sprouting. These results indicate the following. (i) In the human there is anatomical evidence for postnatal maturation of the hippocampus and our results are consistent with the notion that AH pyramids are a stable population; however, there are probably increases in granule cell numbers. Further, compared with the AH, dendritic maturation of the FD granule cells appears to take longer. (ii) Extra-hippocampal childhood seizures whether from prenatal or postnatal aetiologies are associated with moderate FD and minimal AH neuron losses and signs of aberrant mossy fibre sprouting. (iii) By contrast, young children with the syndrome of mesial temporal epilepsy show patterns of neuron loss and mossy fibre sprouting, typical of hippocampal sclerosis. (iv) Repeated extra-hippocampal childhood seizures are not associated with progressive evolution of hippocampal damage or mossy fibre sprouting. These findings support the hypothesis that childhood seizures can damage or alter the postnatally developing granule cells of the human hippocampus, and that early neuron loss and aberrant axon circuits may contribute to chronic hippocampal seizures. However, repeated childhood generalized seiz
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PMID:Childhood generalized and mesial temporal epilepsies demonstrate different amounts and patterns of hippocampal neuron loss and mossy fibre synaptic reorganization. 867 5

Relatively little is known about language cortex representation in patients with developmental pathology and epilepsy. We report the results of mapping language by electrical stimulation of chronically implanted subdural electrodes in 34 patients (mean age, 12.2 years) evaluated for epilepsy surgery, 28 of whom had magnetic resonance imaging or histological evidence of developmental tumors or cortical dysplasia. Language cortex was identified in the temporal or frontal lobe of 19 patients (left hemisphere in 17, right hemisphere in 2), and overlapped or bordered the epileptogenic region in 12. Language cortex was not found in the frontal or temporal lobe of 15 patients (left hemisphere in 4, right hemisphere in 11) and was presumed to be contralateral to grid placement. Three patients with left-hemisphere perinatal or postnatal cerebral insults before the age of 5 years had no language in the left hemisphere, while 3 patients with insults between the ages of 6 and 16 years had preserved left-hemisphere language. Developmental lesions and early-onset seizures do not displace language cortex from prenatally determined sites, whereas lesions acquired before the age of 5 years may cause language to relocate to the opposite hemisphere, but only when language cortex is destroyed.
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PMID:Language cortex representation: effects of developmental versus acquired pathology. 868 89

Epilepsy is a common condition that affects 0.5 to 1% of all children. Although most children with epilepsy have well-controlled seizures with use of one antiepileptic drug (AED), some children have medically refractory seizures. This situation can be the result of inaccurate classification of the paroxysmal event, use of an inappropriate AED, of a truly medically refractory seizure disorder. Paramount to the initial assessment of a child with presumed epilepsy is the appropriate classification of the paroxysmal event. Several nonepileptic conditions, such as motor tics or breath-holding spells, can cause paroxysmal abnormalities in children, which can be confused with epilepsy. The common pediatric epileptic and nonepileptic conditions are reviewed, and the standard and new AEDs and their side effects are discussed. When a child's seizure disorder is intractable despite adequate trials of AEDs, surgical treatment is increasingly becoming an effective option. Such procedures should ideally be performed at centers with extensive experience in this area and with a multidisciplinary team approach. With improved magnetic resonance imaging technology, increasing numbers of children with medically intractable localization-related epilepsy are being found to have underlying focal cortical dysplasia, tumors, or hippocampal atrophy. These abnormalities can often be surgically resected with excellent results. A generalized epilepsy may also be remediable with surgical treatment. Specifically, preliminary data suggest that infantile spasms, when triggered by an underlying focal cortical dysplasia, may be effectively treated by surgical resection. Patients with certain catastrophic seizure disorders, such as Sturge-Weber syndrome or hemimegalencephaly, require prompt intervention with hemispherectomy. The presurgical evaluation relies heavily on the magnetic resonance imaging, positron emission tomography, and single-photon emission computed tomography scan data as well as the electroencephalogram in identifying the area of epileptogenic abnormality.
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PMID:Update on epilepsy in pediatric patients. 879 Feb 70

Dysembryoplastic neuroepithelial tumor (DNT) in a newly proposed mixed neuroglial tumor in the cerebral cortex. However, DNT associated with phacomatosis has mostly been considered exceptional. In this paper, a case of DNT associated with neurofibromatosis type 1 is reported. A 23-year-old male was admitted to our hospital complaining of intractable complex-partial seizure. He had a history of neurofibromatosis type 1 (NF - 1) and pituitary dwarfism. On general physiological examination, many cafe au lait spots and freckling could be noted, showing that the case was neurofibromatosis type 1. In addition, neurological examination showed no abnormal findings. MR images revealed a small area of abnormal intensity on the right temporal. This region showed high intensity on T2 weighted image and low intensity without enhancement on T1 weighted image. On electroencephalography (EEG), an epileptic spike focus was demonstrated in the right temporal lobe. So, lobectomy was performed for control of epilepsy. Postoperative course was uneventful and without seizure. On histological examination, the tumor was composed of three different components : specific glioneural element, foci of oligodendrocyte-like cell, and cortical dysplasia. All of these findings were consistent with the definition of DNT by Daumas-Duport et al, except for the association with NF - 1. Although reported cases of DNT associated with FN - 1 are exceptionally rare, both DNT and NF - 1 originate from maldevelopment of the fetal central nervous system. It is very interesting that our case indicated the possibility of co-existence of both diseases.
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PMID:[A case report of dysembryoplastic neuroepithelial tumor associated with neurofibromatosis type 1]. 884 80

The purpose of this study is to test a new pulse sequence, fast inversion recovery for myelin suppression (FIRMS) for its ability to improve the conspicuity of gray matter. Twenty-six seizure patients were scanned with FIRMS as well as standard sequences. Gray matter conspicuity was evaluated objectively using region-of-interest calculations, including image contrast, contrast ratios, and contrast:noise (C/N). In evaluation of the hippocampus and cortex, all objective measurements of conspicuity were highest for FIRMS. In five clinical cases of suspected cortical dysplasia, FIRMS improved delineation of pathology in positive cases and ruled out the diagnosis in negative cases. In a case of hippocampal sclerosis, FIRMS was able to demonstrate atrophy of the alveus. Fast inversion recovery for myelin suppression holds promise for its ability to highlight the cerebral cortex and hippocampus.
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PMID:Fast inversion recovery for myelin suppression (FIRMS). A new MRI pulse sequence for highlighting cerebral gray matter. 887 67


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