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 somatosensory evoked potentials in two children with a unilateral migration disorder (pachygyria) of the cerebrum, which was detected by MRI, were examined in order to evaluate the function of the malformed sensory cortex. A 5-year-old girl had slight left hemiparesis, seizures, and mental retardation, and a 4-month-old boy had left hemiparesis. Neither patient showed distinct sensory disturbance. Short latency somatosensory evoked potentials and somatosensory evoked potentials recordings demonstrated that the early cortical component, N20, was absent and a positive wave appeared on paretic left-hand stimulation. On nonparetic right-hand stimulation, the primary evoked response (N20-P30) of the left hemisphere, which originates in Broadmann area 3b, was almost normal. Multichannel recordings on the scalp of one patient revealed that a positive wave without polarity inversion appeared posterior to the right central sulcus on median nerve stimulation on the paretic side. The radial dipole in the sensory cortex (area 1 or area 3a) or motor cortex (area 4) could have formed the positive/negative biphasic wave in the relatively wide centroparietal area in the present patients. In the case of unilateral cortical dysplasia, the malformed cortex with subnormal function of sensation might induce the change in the early component of somatosensory evoked potentials.
 ...
PMID:Somatosensory evoked potentials with a unilateral migration disorder of the cerebrum. 962 11

Congenital cerebellar ataxia is usually thought to be of cerebellar origin. We report two children with congenital cerebellar ataxia, in whom neuroimaging investigations suggest the possibility of a parietal etiology. The two boys showed hypotonia, delayed motor and cognitive development followed by marked, truncally pronounced ataxia. In one case infantile spasms were treated successfully with adrenocorticotropic hormone, although in follow-up the child suffered from occasional seizures. Magnetic resonance imaging showed in one case parieto-occipital pachygyria and in the other there was marked pachygyria, most pronounced over the parieto-occipital area. In both children cerebellar structures were normal. Cerebello-parietal connections are known to be responsible for acquired parietal limb ataxia. Although not proven, parietal lesions are the most likely etiology of congenital cerebellar ataxia in these two children. Therefore, cerebral, especially parietal pathology must be considered in children with congenital ataxia.
 ...
PMID:Congenital ataxia of parietal origin? Report of two cases. 966 70

Neuronal migration anomalies are a spectrum of brain malformations caused by insults to migrating neuroblasts during the sixth week to fifth month of gestation. To study the characteristics of MRI findings in migration anomalies, MR images of 36 patients (28 children and 8 adults) with migration anomalies were evaluated. Five patients had lissencephaly, eight had pachygyria, twelve had schizencephaly, six had heterotopias of gray matter, three had hemimegalencephaly, and two had polymicrogyria. The frequency of migration anomalies was 0.51% of all cranial MRI studies and 1.21% of pediatric cranial MRI studies at our hospital. The major clinical presentations of these patients were seizure (64%), development delay (42%), motor deficits (42%) and mental retardation (25%). Twenty-five patients (69%) associated with other brain anomalies, including: other migration anomalies in 12 cases (33%), absence of the septum pellucidum in 10 cases (28%), Dandy-Walker malformation/variant in 5 cases, arachnoid cyst in 4 cases, agenesis of the corpus callosum in 3 cases, holoprosencephaly in 2 cases, mega cisterna magna in 1 case and cephalocele in 1 case. Some of them presented with multiple complicated anomalies. As MR imaging provides superb gray-white matter distinction, details of cortical anatomy and multiplanar capability, it can clearly delineate the detail morphologic changes of the brain caused by neuronal migration disorders as well as the associated anomalies.
 ...
PMID:Magnetic resonance images of neuronal migration anomalies. 978 Jun 1

We report an 11-year-old boy with a non-photosensitive epileptic self-induced seizures, pacygyria and familial ataxia. His grandmother and aunts had dysarthria, and his mother had developed progressive ataxia and myoclonus since 40 years old. His older sister had ataxia, mental retardation and epilepsy. As for the boy, motor developmental delay with muscle hypertonicity of left extremities was recognized at the age of 5 months. Mental retardation and ataxia was recognized at the age of 3 years and slight mental regression is recognized at the age of 11 years. No special findings were detected in an examination of his blood and cerebrospinal fluid, including amino acids, lysosomal enzymes activity and genetic analysis for dentatorubralpallidoluysian atrophy. Brain magnetic resonance imaging revealed pachygyria of the right cerebral cortecies. At the age of two, he began to induce seizures with impairment of consciousness in himself by waving his right hand over his face which was directed toward a source of bright light. At the age of seven, he developed spontaneous seizures with impairment of consciousness. An EEG showed frequent spikes in the occipital areas, on the right and left sides occurring either independently or synchronously. Intermittent photic stimulation and pattern stimulation did not induce a paroxysmal discharge in EEG. Ictal EEG suggested that the origin of the seizures was the occipital lobe. Treatment with valporate and zonisamide was effective in reducing the seizures. The findings of our case imply the pathogenesis of self-induced seizures and the relationship between PME and neuronal migration disorders.
 ...
PMID:[A case of non-photosensitive, self-induced epileptic seizures with pacygyria]. 978 Jul 45

The role of inheritance in neuronal migrational disorders is under intense investigation. Studies on neuronal migrational disorders (NMDs) from developing countries that have a high rate of parental consanguinity are lacking. The present study included 29 children (aged 15 days-12 years, mean age 1.4 years) who were diagnosed to have NMDs, from a non-selected population with seizures and non-selected population of cognitive developmental delay, in the period January 1994 to April 1997. Seventeen (58.6 per cent) patients had lissencephaly, four (13.8 per cent) patients had pachygyria, three (10.3 per cent) patients had neuronal heterotopia, four (13.8 per cent) patients had schizencephaly, one patient (3.4 per cent) had hemimegalencephaly, and 14 (48.2 per cent) patients with NMDs had other associated conditions. Lissencephalic patients had a high rate of parental consanguinity (88.2 per cent) and family history of possible similar cases (76.4 per cent). In conclusion, lissencephaly is probably the commonest neuronal migrational disorder in communities with a high rate of parental consanguinity, adding significant support to the literature on the genetic aetiology of lissencephaly.
 ...
PMID:Clinical patterns of neuronal migrational disorders and parental consanguinity. 997 79

We describe clinical and neurophysiological findings in six related children with congenital microcephaly, seizures that began within the first 2-4 months of life, and severe mental retardation (MR). These affected children (five girls and one boy), born to two women who are half-sisters, inherited the disease as an autosomal recessive trait. Physical examination of these children did not show any of the anomalies in the known cortical malformation syndromes such as lissencephaly types I and II. Neuroradiological studies in these children documented microcephaly and a simplified gyral pattern with no pachygyria. Chromosomal analysis showed neither karyotypic abnormalities nor a microdeletion at 17p13.3, site of the lissencephaly type I gene locus (LIS1). Genetic studies failed to show linkage of this family to LIS1, LIS2 (a region on chromosome 2p homologous to LIS1), or MCPH1 (a locus for primary autosomal recessive microcephaly). The unique clinical and genetic findings in this family suggest that these children may be affected by an as-of-yet unmapped neuronal proliferation disorder.
 ...
PMID:Microcephaly with simplified gyral pattern in six related children. 1032 39

Lissencephaly type I is a diffuse type of migration disorder that contains agyria and/or pachygyria on the brain surface. We experienced 5 cases of this disease and evaluated their electroencephalographic findings and seizure types based on the neuroradiological classification of lissencephaly. Ages at seizure onset ranged from 2 months to 4 months (mean 3.2 months). The patients with complete agyria had generalized tonic seizures, and those with pachygyria partial seizures or tonic spasms. The characteristic findings of complete agyria in electroencephalogram were high-voltage alfa activity. The amount of high-voltage slow waves increased with the ratio of pachygyria on the brain surface. The appearance of multifocal spikes and sharp waves suggested irregular arrangement of pachygyria on the brain surface.
 ...
PMID:[Lissencephaly type I: electroencephalographic findings and neuroradiological classification]. 1035 68

We report on 2 families with diffuse pachygyria and cerebellar hypoplasia, who presented hypotonia, ataxia, seizures, and developmental delay since infancy. Computed tomography (CT) and magnetic resonance imaging (MRI) revealed decreased gyral formation in the cerebral cortex and marked hypoplasia in the cerebellum. Cerebellar hypoplasia is often associated with type 2 lissencephaly; however, our cases showed no polymicrogyria, and their clinical findings were quite mild compared with those of microlissencephaly. Their characteristic phenotype suggested a new genetic syndrome, which was possibly inherited as an autosomal recessive trait.
 ...
PMID:Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome? 1051 6

In this study, technetium-99 ((99)Tc)-hexamethylpropyleneamine-oxine single-photon emission computed tomography (SPECT) was performed on 13 children with classic lissencephaly (nine with epileptic seizures, four without seizures). Focal or multifocal hypoperfusions were observed in 12 patients. The hypoperfused areas observed on SPECT scanning did not correlate with the localization of agyric-pachygyric regions in all patients. The distribution of perfusion abnormalities by SPECT and the localization of agyria-pachygyria as detected by magnetic resonance imaging did not correlate strongly. All nine patients with seizures and three of the four patients without seizures had focal or multifocal cerebral blood flow abnormalities on the SPECT scans. The presence of brain perfusion abnormalities detected by SPECT and the occurrence of epileptic seizures did not have a significant relationship. These results suggest that the role of SPECT studies in classic lissencephaly is not clearly defined. More sophisticated methods are needed to clarify the correlation between structural and functional abnormalities of patients diagnosed with lissencephaly.
 ...
PMID:99Tc-HmPAO SPECT in 13 patients with classic lissencephaly. 1078 46

This 9-year-old boy was admitted at the age of 2 with a diagnosis of congenital hemiparesis while the rest of physical and neurological examination was normal. His score in the Wechsler intelligence scale was 80. Right fronto-parietal cortical dysplasia with hemisphere atrophy was evident by computerized tomography scanning and magnetic resonance imaging. The latter, also disclosed abnormal thick cortex which was interpreted as polymicrogyria or pachygyria. Karyotype was normal. He had a hemifacial motor seizure at the age of 7. At the age of 8 frequent atonic or inhibitory seizures were presented. Asymmetric bilateral spike discharges with high voltage in the right hemisphere during the EEG recording were found. His mother, a 35-year-old woman (Full scale; Adult intelligence scale: 85) also had congenital hemiparesis. She never had seizures and her EEG was normal. Magnetic resonance imaging disclosed right fronto-parietal cortical dysplasia with ipsilateral hemisphere atrophy. Karyotype was normal. Our cases should be interpreted as a familial presentation of the anomaly, probably with autosomal-dominant transmission.
 ...
PMID:Focal polymicrogyria in mother and son. 1089 42


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