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

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.
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PMID:[Neuronal migration disorders: clinical-radiological correlation]. 854 42

The Walker-Warburg syndrome (WWS) is an autosomal recessive disease entity within the framework of "cerebro-ocular-muscular syndromes". The gene locus is still undetected. Its diagnostic criteria have been firmly established in the literature on newborns or infants affected with the disease. However, a diagnosis of severe pathologic conditions must often be made on the basis of ultrasound examination at a fetal age. It is therefore necessary to examined whether the diagnostic criteria are sufficient to warrant a diagnosis at the fetal stage. We here report on a new family affected with WWS. Two elder siblings had presented with epileptic seizures, eye abnormalities as well as multiple skeletal dysplasias (the latter finding in the first child only) in the neonatal period, and died in their first years. Postmortem examination of the second child revealed type II lissencephaly, buphthalmos, and undifferentiated retina with rigid retinal folds. Skeletal muscle tissue was not examined. In a sibling fetus, bilateral cataract was detected in the 17th gestational week by ultrasonographic examination. Postmortem examination in the 23rd gestational week revealed type II lissencephaly and bilateral cataract. Skeletal muscle was normal. Taken together, all siblings were diagnosed as Walker-Warburg syndrome. In the fetal case, prenatal diagnosis could only be made with confidence against a background of a positive family history.
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PMID:Three siblings with Walker-Warburg Syndrome. 878 Sep 38

Agyria-pachygyria or lissencephaly type I, a diffuse cortical malformation, provides infantile spasms (IS) which are refractory and persisting after the first decade, an age at which IS have disappeared in the other causes. In order to study the functional postnatal development of the lissencephalic cortex, we measured regional cerebral blood flow (rCBF) using SPECT (Single photon emission computed tomography) and 133Xe in 14 children with lissencephaly, aged from 4 months to 12 years (mean = 40 months) compared to normal children of the same age range and to children with cryptogenic IS aged from 3 months to 3 years (mean = 13 months). rCBF was calculated in frontal (FR) and parieto-temporo-occipital (PTO) cortex as well as the ratio FR/PTO. FR/PTO was higher in lissencephalic patients than in controls (P < 0.001) due to higher FR rCBF (P < 0.001), particularly in patients aged less than 3 years. FR/PTO was also higher in lissencephalic patients than in patients with cryptogenic IS (P < 0.001) also due to higher FR rCBF (P < 0.001). The values of FR/PTO and FR rCBF remained stable during the first years of life and did not exhibit any age- or topography-related changes as they do in controls or in patients with cryptogenic IS. There results suggest that the normal process of postnatal development in the brain is lacking in agyria-pachygyria. That could play a role in determining the persistence of epileptic spasms, the specific seizure type of this malformation.
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PMID:Brain functional imaging SPECT in agyria-pachygyria. 879 59

We reported a case of type I lissencephaly/pachygyria which had cystic changes in the periventricular white matter and lentiform nuclei. The patient developed neonatal seizures and was referred to Anjo Kosei Hospital His seizures were frequent and refractory to anticonvulsants. His development was severely retarded. CT and MRI revealed cystic changes in the periventricular white matter and lentiform nuclei as well as bilateral diffuse pachygyria and agenesis of corpus callosum. He died of unknown cause at 5 months of age and postmortem examination was performed. Type I lissencephaly/pachygyria, almost complete agenesis of corpus callosum, leptomeningeal glioneuronal heterotopia and hypoplasia of corticospinal tract were seen pathologically. Marked gliosis and CD 68 positive macrophages were found around the cystic lesions in the periventricular white matter and lentiform nuclei, which suggests that these lesions were the secondarily destructive lesion. We considered that these secondary lesions were due to frequent seizures which could cause insufficient supply of blood and glucose in those areas.
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PMID:[A case of pachygyria with cystic changes in the periventricular white matter and putamen]. 883 Dec 46

Using magnetic resonance imaging (MRI), we studied the myelination of the brains of 8 patients with West syndrome. All cases were symptomatic, 2 having severe asphyxia, 1 lissencephaly, 1 Leigh encephalopathy, 2 tuberous sclerosis, 1 multiple anomalies and 1 microcephaly. Myelination of the pons, cerebellum, thalamus, internal capsules, optic radiation, centrum semiovale and cerebral white matter was separately assessed. The 2 cases with tuberous sclerosis exhibited normal myelination patterns, although asymmetry of the cerebral white matter was noted. These cases had a moderate degree of mental retardation and persistent seizures. The other 6 cases exhibited a marked delay of myelination throughout the central nervous system except for the midbrain. These cases had severe psychomotor retardation and persistent seizures. Although the difference in the outcome may simply reflect the different etiological disorders, these results suggest that the myelination pattern is related to the psychomotor retardation but not to the severity of the seizures in West syndrome. Atrophy of the corpus callosum developed during ACTH therapy and disappeared after the therapy. It was thus suggested that the callosal atrophy caused by the ACTH therapy was reversible.
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PMID:An MRI study of the myelination pattern in West syndrome. 883 97

A ten-months-old girl was evaluated for developmental delay, increased muscle tone and seizures. CT and MRI revealed un uncommon combination of two different manifestations of neuronal migration disturbance: agyria/pachygyria and subcortical laminar heterotopia ("double cortex" syndrome). The occurrence of these two manifestations of neuronal migration dosorders in the same individual is quite unusual. The possible pathogenesis of such a complex disorder could probably be established only by histologic examination of the brain. A positive serologic reaction for cytomegalovirus in the infant at the age of 11 months and in the mother suggested but did not prove the cytomegalovirus infection in early gestation as the cause of the disorder.
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PMID:Complex disorder of neuronal migration in an infant with possible congenital cytomegalovirus infection. 889 May 34

We describe the neuropathological features of a complex brain malformation characterized by cerebral hemihypotrophy with ipsilateral lissencephaly, periventricular nodular heterotopia and macrogyria. The contralateral hemisphere showed only slight alterations of the gyral pattern and a limited periventricular gray matter heterotopia. The clinical picture of the patient, who died at the age of 15 years, consisted of severe oligophrenia, intractable seizures and left hemiparesis. We discuss the nosological status of this neuronal migration disorder of apparently unknown origin.
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PMID:An unusual type of primary cerebral hemihypotrophy with signs of dysfunctional neuronal migration. 896 Mar 23

Clinical and electroencephalographic (EEG) studies were performed in nine patients with cerebral cortical dysplasia (CD). Interictal single photon emission computed tomography (SPECT) using 99mTc-hexamethyl propylene amine oxime were studied in four patients. A patient with hemimegalencephaly and agyria had poor outcome in both developmental and epileptic aspects. The prognoses of clinical seizures were generally related to the severity, location and size of CD. The size of the lesion was not always correlated with the clinical seizure outcome. Four patients had focal pachygyria. Clinical pictures were diverse in these patients. One patient underwent callosotomy for the control of intractable seizures. The others had no clinical seizures despite of the appearance of paradoxical discharges in the area of pachygyria. The distribution of CD detected by MRI did not always correlate with that of paradoxical discharges in EEG and/or hypoperfusional areas seen in SPECT. These findings suggest that a detailed neuroimaging study is useful to elucidate the epileptogenesis in patients with CD, and that all the cortical abnormalities in patients with intractable epilepsy are not detected by MRI.
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PMID:[Cerebral cortical dysplasia associated with epilepsy: MRI and clinical aspects]. 898 96

While disorders of neuronal migration are associated with as much as 25% of recurrent childhood seizures, few of the genes required to establish neuronal position in cerebral cortex are known. Subcortical band heterotopia (SBH) and lissencephaly (LIS), two distinct neuronal migration disorders producing epilepsy and variable cognitive impairment, can be inherited alone or together in a single pedigree. Here we report a new genetic locus, XLIS, mapped by linkage analysis of five families and physical mapping of a balanced X;2 translocation in a girl with LIS. Linkage places the critical region in Xq21-q24, containing the breakpoint that maps to Xq22.3-q23 by high-resolution chromosome analysis. Markers used for somatic cell hybrid and fluorescence in situ hybridization analyses place the XLIS region within a 1 cM interval. These data suggest that SBH and X-linked lissencephaly are caused by mutation of a single gene, XLIS, that the milder SBH phenotype in females results from random X-inactivation (Lyonization), and that cloning of genes from the breakpoint region on X will yield XLIS.
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PMID:Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. 909 58

A moderately retarded Japanese boy, with a normal male karyotype (46,XY), was diagnosed to have a subcortical band heterotopia or double cortex syndrome. The band heterotopia was relatively thick compared with that of other patients reported. On T2-weighted coronal MR sections, there were numerous radial linear structures between the cortex and the band, probably representing the trace of radial fibers. He had no family members with seizures or mental retardation. Over 50 described patients with this malformation have been female except two patients briefly mentioned by several investigators. Band heterotopia or the double cortex syndrome is inherited as a sex-linked dominant condition. Affected mothers may have affected daughters or sons with lissencephaly, suggesting a link between these disorders. This is the first detailed description of a male with band heterotopia.
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PMID:Band heterotopia or double cortex in a male: bridging structures suggest abnormality of the radial glial guide system. 919 90


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