Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case of a 15-year-old right-handed girl with developmental delay, mild retardation, astereognosis, and tactile discrimination impairment in the left arm, is reported. During sleep, right partial simple motor seizures with sialorrhea and saliva pooling were present, sometimes followed by secondary generalization. Absences and drop attacks were also observed. Electroencephalography revealed left centrotemporal spike waves spreading to the homologous contralateral region, generalized 3-Hz spike-and-wave complexes enhanced by hyperventilation, and generalized polyspike-and-wave discharges during drowsiness. Magnetic resonance imaging showed right perisylvian (opercular) malformation. Benign epilepsy of childhood with centrotemporal spikes (BECCTS) is a focal idiopathic epilepsy presumed to be of genetic origin. Although brain damage is not expected, structural lesions including opercular macrogyria have been reported. This coexistence has been considered mainly causal and only exceptionally causal. The Foix-Chavany-Marie syndrome or operculum syndrome is the result of bilateral opercular damage. In our child the right structural and the left functional lesions appeared mutually activated, yielding a transient opercular syndrome. The concomitance of BECCTS and developmental opercular dysplasia is suggestive of a common genetic substratum.
 ...
PMID:Benign epilepsy of childhood with centrotemporal spikes and unilateral developmental opercular dysplasia. 792 39

A boy, born after normal pregnancy and delivery, began to have fits at 3 days. The seizures were composed of tonic or tonic-clonic convulsions at the upper extremities but myoclonus was absent. These attacks were not easy to control. There was gross developmental delay. Laboratory investigations were almost normal except for cerebrospinal fluid: pleocytosis and high protein content. EEG showed "suppression-burst" and MRI revealed high signal intensity in the left temporo-occipital region on T2 weighted image. At three and a half months of age, EEG changed into hypsarrhythmia. The child died at 5 months of age. At post mortem neuropathological examination, the cortical ribbon in the bilateral parieto-occipital regions appeared thick, as if there were pachygyria. Microscopically polymicrogyria was noted in these areas as well as in the insular cortex. This lesion showed a symmetrical distribution. The cytoarchitectonic features of the polymicrogyric cortex did not consist of 4 layers. The other structures of the central nervous system were almost devoid of lesion. The number of clinico-pathological reports on Ohtahara's syndrome is very limited and the etiopathogenesis of polymicrogyria is discussed.
 ...
PMID:[Early infantile epileptic encephalopathy (Ohtahara syndrome) with poly-microgyria]. 802 66

The authors report a case of a newborn with severe encephalopathy and cerebral calcifications. The newborn was admitted to Neonatal Intensive Care Unit in Chieti at 2 days of age suffering from continuous generalized seizures. He was the child of healthy first-degree cousins. Cerebral ultrasonography showed bilateral ventricular dilatation and an intrathlamic hyperechoic image. Computed tomography and magnetic resonance imaging showed ventricular and corpus callosus hypoplasia, pachygyria, widespread delayed myelination areas, and basal nuclei and periventricular calcifications. All serum and urine analyses showed normal results. In particular, all demyelinizing metabolic diseases were excluded. Based upon these findings, we speculate that this infant may be suffering from fetal encephalopathy with cerebral calcifications.
 ...
PMID:Fetal encephalopathy with cerebral calcifications: a case report. 804 19

A family of 5 affected male infants in 2 generations with an X-linked pattern of inheritance is described. All affected infants manifested intractable seizures, severe psychomotor retardation, growth failure, microphallus, and death during infancy. Three of the affected patients had radiological studies that demonstrated findings consistent with pachygyria-agyria and agenesis of the corpus callosum. We believe that this family represents a form of X-linked pachygyria-agyria (lissencephaly) that has not been described previously and suggests a locus for lissencephaly on the X chromosome.
 ...
PMID:X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus. 805 59

Two brothers are described with a syndrome characterized by mental retardation, atypical absence, atonic and generalized tonic-clonic seizures, and bilateral symmetrical slow spike and wave discharges on electroencephalograms. Magnetic resonance imaging revealed dysplastic cortex probably representing pachygyria primarily over the parietal regions bilaterally in both patients. The presence of an identical clinical, electroencephalographic, and cortical developmental abnormality on imaging studies in these brothers suggests that a genetic mechanism may play a role in some developmental disorders of the cerebral cortex.
 ...
PMID:Familial diffuse cortical dysplasia. 812 45

Four adults with unilateral (three cases) or bilateral (one case) closed schizencephaly, medically intractable epilepsy, and otherwise normal neurological examinations are presented. Three were examined preoperatively with magnetic resonance imaging and one with computerized tomography. Scalp electroencephalographic (EEG) studies in all four patients and electrocorticography via intracranial electrodes in two showed seizure origin in the cleft regions in two patients and in the ipsilateral temporal lobe in the other two. Temporal lobectomy was performed in the two patients with temporal lobe foci. Resection of superficial pachygyria around the cleft was performed in one patient. The authors conclude that the abnormal cortical mantle lining schizencephalic clefts may be epileptogenic. Alternatively, temporal allocortex may become the source of seizures. Therefore, these patients require careful EEG monitoring of the entire ipsilateral hemisphere as well as the cleft region.
 ...
PMID:Resective surgery for medically intractable epilepsy associated with schizencephaly. 816 20

Centrifugal migration of newly generated neuroblasts toward the cortical surface can be arrested at different levels, resulting in anatomically different disorders. This is illustrated by three patients with diffuse or generalized neuronal migration disorders (NMDs): pachygyria, subcortical laminar heterotopia ('double-cortex' syndrome), and periventricular laminar heterotopia. All had medically intractable partial and generalized epileptic seizures, but there was no close correlation between the type of dysplasia and intelligence or clinical pattern. The low intelligence found in these patients may relate to the epileptic syndrome, rather than to the NMDs alone. MRI suggested that in this spectrum of disorders the migration process was arrested at different stages, depending on the extent, timing and site of damage to radial glial fibres.
 ...
PMID:Stages and patterns of centrifugal arrest of diffuse neuronal migration disorders. 833 48

An autopsy case with various cerebral malformations was studied and discussed on the pathogenesis. The patient was a 17-year-old female who developed tonic seizures around the age of 1 month and was treated under a diagnosis of infantile spasms. A CT scanning revealed agenesis of corpus callosum, subtentorial arachnoid cyst and brain atrophy. Neuropathologically multiple malformations were observed in the brain, polymicrogyria, pachygyria, cerebral gray matter heterotopia, partial agenesis of corpus callosum, hypoplasia of cerebellar vermis and arachnoid cyst. The most remarkable finding was chronic inflammation represented by infiltration of lymphocytes and foamy macrophages, fibrosis and vascular hyalinization in the arachnoid membrane as well as in the choroid plexus of the third ventricle. Proliferation of astrocytes with intracytoplasmic eosinophilic inclusions was also found in the areas of polymicrogyria and heterotopia. The infratentorial cyst was walled by scarring cerebellar tissue with a focal inflammation which was probably caused by an encephaloclastic process. The diversity in these cerebral malformations suggests that etiology might be polyphasic in time and infectious in nature during the intrauterine period of cerebral development.
 ...
PMID:[Cerebral malformations associated with probable intrauterine infection]. 833 98

We report on a 7-year-old boy with microcephaly, bitemporal hollowing, low sloping forehead, slightly prominent occiput, widely set eyes, broad and prominent nasal bridge, and severe postnatal growth deficiency. Hypertonia, hyperreflexia, seizures, and profound mental retardation were also present. Brain MRI documented partial agyric cortex with patchy pachygyria, colpocephaly, and hypoplasia of corpus callosum and brain stem, which is consistent with the diagnosis of lissencephaly type I grade 2. On the basis of his phenotypic appearance the patient is considered to have the Norman-Roberts syndrome. Molecular studies, performed by means of in situ hybridization and DNA probe analysis, did not demonstrate deletion in the Miller-Dieker/isolated Lissencephaly critical region on the short arm of chromosome 17.
 ...
PMID:Norman-Roberts syndrome: clinical and molecular studies. 836 61

Three cases of diffuse subcortical gray matter heterotopias in children are reported. Generalised seizures and mild mental retardation were the most frequent signs. No specific electroencephalographic pattern was recognized. Magnetic resonance imaging scans showed the thick diffuse layer of heterotopic gray matter which was surrounded by normal white matter. Gyration was normal, and no associated malformation was observed. This neuronal migrational disorder happens between the 10th and 16th gestational week. Nineteen observations (17 girls) are reported in the literature. The filiation with agyria-pachygyria and the possible genetic transmission are discussed.
 ...
PMID:[Diffuse subcortical heterotopias of the gray matter]. 839 79


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>