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

We report a 1-year and 9-month old girl with a pachygyria in the left cerebral hemisphere who showed intractable seizures mimicking severe myoclonic epilepsy in infancy (SMEI) treated with TRH-T. The patient has been admitted to our department 3 times and then treated with intramuscular TRH-T (0.5-1.0 mg daily) successfully. Seizures had been controlled with TRH-T in 21, 10 and 5 days, and thereafter ad-on therapy with peroral TRH-T (1-4 mg daily) has been continued. The drop of plasma prolactin level after TRH-T treatment suggests a possible participation of the inhibitory action of dopaminergic neurons in seizure control. Pachygyria is known to have microdysgenesis of the cerebral cortex, which can be the epileptic focus of the case. The TRH-T can be beneficial in the treatment of intractable seizures mimicking SMEI seen in patients with pacygyria.
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PMID:[A case of intractable epilepsy with pachygyria: the effect of TRH-T treatment]. 839 38

A retrospective analysis was conducted of 9 children with focal cortical dysplasia and localization-related epilepsy who underwent epilepsy surgery. Focal cortical dysplasia includes malformed lesions with extensive abnormalities of neuronal morphology, architecture, and lamination. The patients were examined by EEG and video EEG telemetry, CT, MRI, and SPECT using 99mTc-HmPAO. EEG disclosed interictal localized epileptiform activity in 8 patients and nonepileptiform activity with slow waves in 1. Ictal EEG telemetry demonstrated a predominantly localized seizure onset in 8 patients and MRI demonstrated an abnormal loss of gray and white matter distinction in 6. Decreased regional cerebral blood flow (rCBF) was detected in 4 patients by interictal SPECT, and increased rCBF in the same epileptogenic focus in 2 by postictal SPECT. Pathologic analysis found focal cortical dysplasia in 8 patients. One had extensive focal polymicrogyria, pachygyria, and extensive white matter heterotopias. It is concluded that MRI can detect focal cortical dysplasia, which corresponds to the epileptogenic focus on EEG, and SPECT may help to detect a functional abnormality in the same region.
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PMID:Focal cortical dysplasia in children with localization-related epilepsy: EEG, MRI, and SPECT findings. 849 37

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

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

Hemimegalencephaly (HME), a rare congenital abnormality characterized by unilateral enlargement of the cerebral hemisphere, is one of the less common causes of intractable seizures. We report a 6-month-old infant with uncontrolled seizures who was diagnosed to have a large mass lesion based on a CT scan. Postmortem examination revealed left-sided HME with pachygyria, widened cortex, indistinct grey-white junction, and distorted deep nuclear masses. Histological features included loss of cortical lamination, large atypical neurons with argyrophilic accumulations, ballooned cells, neuronal heterotopia, and astrocytosis with dystrophic calcification. The heterotopic neurons in the white matter were present in a radial pattern suggestive of aberrant neuronal migration. Several large neurons were dystrophic with cytoskeletal abnormalities like phosphorylated high molecular weight neurofilament and ubiquitin in the cytoplasm. However, typical neurofibrillary tangles with Congo red and tau positivity were not observed. Synaptophysin labelling was found to be decreased in the cortex, but some of the abnormal neurons had dense perisomatic label. The majority of the balloon cells were astrocytic in origin, being positive for glial fibrillary acidic protein and negative for the neuronal markers. Although the etiology of HME is not known, it provides an opportunity to study anomalous development of the brain and neuronal developmental abnormalities.
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PMID:Hemimegalencephaly--morphological and immunocytochemical study. 902 Mar 89

We describe clinical manifestations and magnetic resonance imaging (MRI) findings in a man and his mother who were diagnosed as having a neuronal migration disorder. The son had severe psychomotor retardation and the mother had intractable seizures and mild psychomotor retardation. MRI demonstrated moderate pachygyria in the son and subcortical heterotopia in the mother. In both patients, the frontal parts of the brain were characteristically more affected than any other areas. A dominant pattern of inheritance in the family suggests a genetic role in the underlying cause of the migration disorder. The difference in severity between the two patients also suggests an X-linked dominant inheritance. Our family fits the condition of X-linked lissencephaly.
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PMID:Familial neuronal migration disorder: subcortical laminar heterotopia in a mother and pachygyria in the son. 948 90

We report three neonates, one boy and two girls, born to an inbred Arab family who had cortical dysplasia, probably agyria-pachygyria, and agenesis of the corpus callosum. All had asphyxia, intractable seizures, and increased muscle tone at birth and died in the neonatal period. Congenital microcephaly or dysmorphic features were absent. Cytogenetic abnormality, metabolic disorder, and intrauterine infection were excluded. These cases suggest a new cerebral dysgenesis syndrome with autosomal recessive inheritance.
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PMID:Agyria-pachygyria and agenesis of the corpus callosum: autosomal recessive inheritance with neonatal death. 959 9


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