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)

Type I schizencephaly, which is less commonly recognized than the type II variety, consists of a "fused" cleft in the cerebral mantle. Its CT appearance is significantly different from the type II variety, and it may be confused with postdevelopmentally acquired lesions. The CT appearance of eight cases (seven girls and one boy, aged 10 months to 18 years) of type I schizencephaly was correlated with clinical findings and previously recorded neuropathologic features. Presenting symptoms included developmental delay, seizures, and hemiparesis. CT findings in each case showed a unilateral, cortically lined cleft in the parasylvian region extending from the hemispheric surface to the ventricle. Micropolygyria was present in the cortex lining the cleft, and in two of eight patients was also visible elsewhere in the cerebral cortex. Those with associated microcephaly (four of eight patients) had significantly more severe neurologic deficits than did those without microcephaly. CT findings in type I schizencephaly are characteristic and show excellent correlation with neuropathologic specimens. The appearance of these lesions can be explained on the basis of a disorder of neuronal migration in early gestation and they should not be confused with postdevelopmentally acquired lesions.
 ...
PMID:Type I schizencephaly: CT and neuropathologic findings. 311 Dec 5

Migration anomalies are congenital malformations caused by insults to migrating neuroblasts during the third to fifth gestational months. Included in this group are agyria, pachygyria, polymicrogyria, unilateral megalencephaly, schizencephaly, and gray matter heterotopias. Patients who have these conditions present clinically with developmental delay and seizures, and abnormal motor skills are noted in the more severely affected infants. To determine the utility of MR as a method for imaging in these patients, we used MR to evaluate 13 patients who had the full spectrum of migration anomalies. MR was more sensitive than CT in detecting these anomalies because of its better contrast between gray and white matter. We found that MR was particularly more sensitive in detecting schizencephaly, where recognizing the presence of gray matter lining the cleft is critical to distinguishing that disease from porencephaly, and in detecting polymicrogyria, where critical details of cortical architecture are obscured on CT by the overlying bone. Multiplanar capabilities were also found to be essential, since narrow clefts may not be detected when the imaging plane is parallel to the cleft. MR should be the primary imaging method for infants who have seizures or developmental delay.
 ...
PMID:MR of neuronal migration anomalies. 325 18

MR imaging was used to evaluate six patients who had schizencephaly, a disorder of cell migration characterized by holohemispheric, gray-matter-lined clefts. Clinically, these patients presented with intractable seizures and variable developmental delay. Although three of these patients had previous CT scans, the diagnosis was made only by MR. MR was more sensitive than CT in detecting the clefts as well as the accompanying abnormalities, including areas of pachygyria, polymicrogyria, and heterotopic gray matter. The possible pathogenesis of schizencephaly is discussed. MR provides excellent demonstration of the anatomic changes in schizencephaly.
 ...
PMID:MR imaging of schizencephaly. 325 84

Schizencephaly is a primary developmental defect of the brain, presumably caused by failure of formation of the cerebral mantle in the regions of the cerebral fissures. Identification has usually been at autopsy, in association with severe neurologic abnormalities. We identified the characteristic features of schizencephaly on CTs in 11 patients. Age at detection ranged from an infant at 8 months to a 30-year-old adult. Clinical abnormalities varied from mild to severe, including developmental delays and retardation, microcephaly, focal or generalized motor abnormalities, and seizures. CT findings included cerebral clefts, infolding of cortical gray matter along the clefts, an abnormal ventricular system, and other associated cerebral anomalies.
 ...
PMID:Schizencephaly: a clinical and CT study. 654 Mar 98

A case of schizencephaly with epilepsy is reported. The patient had normal intelligence. Apart from a flattened temporal region and a slight anisokoria, the neurological examination was normal. The patient had frequent simple partial epileptic seizures with visual, auditory and gustatory hallucinations. Eight years after onset of the epilepsy, she had secondary generalization of the seizures. During the period of observation, the EEG worsened and the seizure frequency increased, and, ultimately, the patient had to apply for a disability pension.
Seizure 1993 Jun
PMID:Severe schizencephaly without neurological abnormality. 816 68

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

We present the correlation of imaging findings with clinical deficits in 34 children with several anomalies of neuronal migration which were studied retrospectively. The cases studied corresponded to: Schizencephaly 10, lissencephaly 4, heterotopy 9, and hemimegalencephaly 2. The diagnosis of the malformations was performed by computerized tomography (CT) in a few patients and by magnetic resonance (MR) in most cases. Among the clinical alterations, psychomotor delay and seizures of difficult control were the most severe, both appeared at early age. The findings observed in this study suggest the correlations between extension, location and gray matter displasticity and the neurological manifestations.
 ...
PMID:[Neuronal migration disorders: clinical-radiological correlation]. 854 42

Two children with neuronal migration disorders and unexpectedly mild clinical symptoms are reported. The first patient was followed with the diagnosis of febrile convulsion and seizures associated with fever for 14 years. Computed tomography scans were normal. Although periodic slow waves of the left parietal cortex were detected on the first two electroencephalograms, his latest examination was normal. Magnetic resonance imaging performed at 16 years of age disclosed a left parietal schizencephaly extending between the parietal cortex and corpus callosum. The second patient was followed with the diagnosis of febrile convulsion for 2 years and later experienced afebrile seizures. On his latest visit, a posterior parietal pachygyric region and a parieto-occipital island heterotopia on the left hemisphere were diagnosed by magnetic resonance imaging. We believe that review of these patients, at the mildest end of the clinical spectrum of neural migration disorders, will contribute to a new understanding of the correlation between clinical and pathologic findings of neuronal migration disorders.
 ...
PMID:Neuronal migration disorders presenting with mild clinical symptoms. 870 29

We examined 2 siblings with schizencephaly. A 23-year-old female (Case-1) had a mild left hemiparesis, and her 25-year-old brother (Case-2) presented a quadriplegia. Both cases achieved a borderline intellectual level and both had seizure disorders. The magnetic resonance imaging (MRI) of Case-1 revealed thickened gray matter around the fused schizencephalic clefts in the bilateral frontal lobes, mild ventricular enlargement and absence of the septum pellucidum. And, the MRI result of Case-2 disclosed similar but more severe abnormalities. The positron emission tomography (PET) using 18F-Fluoro-2-deoxy-D-glucose of Case-1 demonstrated focal hypermetabolic activity in the ectopic gray matter with the absence of epileptic discharges on the electroencephalogram on the day of PET study. And the single photon emission computed tomography (SPECT) using 123I-N-isopropyl-p-iodoamphetamine of Case-1 delineated focal hyperperfusion in the same lesions. The PET and SPECT findings are unique, since previous reports have indicated focal hypoperfusion and hypometabolism in abnormal gray matter. Familial schizencephaly is a very rare malformation, and this is the first report of that in Japan. Further evaluation in similar cases is needed to determine the pathophysiology of this anomaly.
 ...
PMID:[Two siblings with familial schizencephaly--report of a family and review in relation to clinical features and neuroradiological findings]. 893

It is currently believed that there are two subsets of septo-optic dysplasia (de Morsier's syndrome), one with schizencephaly and the other without schizencephaly. Also, some authors consider septo-optic dysplasia as a mild form of holo-prosencephaly. This article describes a third form of the anomaly which is associated with total callosal absence. Two patients similar to this one have previously been reported. None of these three patients had interhemispheric fusion in any form, excluding holoprosencephaly. They had normal facies. All of them presented with seizures, and no hormonal abnormality was found. This new clinicoradiological type of the anomaly is suggested to be labelled as calloso-septo-optic or calloso-optic dysplasia.
 ...
PMID:Septo-optic dysplasia (de Morsier's syndrome) associated with total callosal absence. A new type of the anomaly. 894 59


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