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

We compared the electroclinical features and evolution of patients with two different types of abnormal cortical organization: unilateral closed-lip schizencephaly (SCHZ) and unilateral polymicrogyria (PMG). Between February 1990 and June 2002, 51 children with either unilateral PMG or closed-lip SCHZ were selected through neuroradiological analysis for investigation at our service. We evaluated the frequency of epilepsy, electroclinical features and evolution. The mean time of follow-up was 7 years (range 1-12 years). All patients underwent neurological examination, computed tomography scan and magnetic resonance imaging, serial electroencephalographic (EEG) recordings and neuropsychological assessment. Thirty-six of the 51 patients had unilateral PMG. All patients had hemiparesis with mild spasticity. Mental retardation was mild in 20 and moderate in 14. In two patients IQ was normal. Partial motor seizures were recorded in 28 patients, with secondary generalization in 20. The median age at onset of seizures was 2 years (range 4 months-7 years). Interictal EEGs showed unilateral spikes in all patients. In 21 patients epilepsy worsened between the ages of 4 and 8 (mean 5.6 years) with frequent atonic seizures, atypical absences, epileptic negative myoclonus and gait difficulties. EEGs showed continuous spike-wave activity or bilateral high-frequency spike discharges during slow-wave sleep. Frequent relapses of atonic and myoclonic seizures were seen in nine patients. At present, 16 patients are seizure-free. Fifteen patients with unilateral SCHZ were included in the study. Focal motor seizures were registered in seven cases, in three of them with secondary generalization. The median age at onset of epilepsy was 2.5 years (range 1-4 years). Interictal EEGs showed unilateral spikes in these seven cases. All patients except one presented mild spastic hemiparesis. Mental retardation was mild in ten children, moderate in two and IQ was normal in three. Although the underlying mechanisms leading to PMG and SCHZ are probably similar, the electroclinical phenomenon of secondary bilateral synchrony with frequent negative myoclonus was not present in our cases with unilateral closed-lip SCHZ.
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PMID:Unilateral closed-lip schizencephaly and epilepsy: a comparison with cases of unilateral polymicrogyria. 1503 Sep 2

This study was conducted in a tertiary pediatric epilepsy clinic to ascertain the spectrum of development malformations in children, with seizures. Seventy Six Children (0-12 yr) with seizures and CNS malformations based on neuroimaging were included. Observed anomalies included dysgenetic corpus callosum (DCC), lissencephaly, focal cortical dysplasia (FCD), pachygyria, polymicrogyria, heterotopia, schizencephaly, holoprosencephaly, hemimegalencephaly, and phakomatoses like tuberous sclerosis, Sturge Weber syndrome and linear cutaneous nevus syndrome. Seizure semiology varied in all categories. Microcephaly, developmental delay and tone abnormalities were common clinical findings. 60.5 percent cases presented in infancy. The characteristic EEG features provided a clue to the diagnosis of anomalies like lissencephaly, agenesis of corpus callosum and alobar holoprosencephaly.
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PMID:Spectrum of congenital CNS malformations in pediatric epilepsy. 1534 72

The authors evaluated four patients with schizencephaly who underwent subtraction ictal SPECT coregistered to MRI (SISCOM) prior to epilepsy surgery. Three patients had a SISCOM alteration that was concordant with the epileptic brain tissue. Two of these patients were rendered seizure-free and one individual experienced a significant reduction in seizures. The patient with an indeterminate SISCOM had an unfavorable outcome. SISCOM is useful in evaluating patients with schizencephaly for epilepsy surgery.
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PMID:Peri-ictal SPECT and surgical treatment for intractable epilepsy related to schizencephaly. 1562 20

We reviewed the epileptogenic cortical malformations for which a causative gene has been cloned or a linkage obtained. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with epilepsy in female patients and prenatal lethality in most males. About 90% of patients have focal epilepsy. Filamin A mutations have been reported in all families and in approximately 20% of sporadic patients. A rare recessive form of BPNH also has been reported. Most cases of lissencephaly-pachygyria are caused by mutations of LIS1 and XLIS genes. LIS1 mutations cause a more severe malformation posteriorly. Most children have isolated lissencephaly, with severe developmental delay and infantile spasms, but milder phenotypes have been recorded. XLIS usually causes anteriorly predominant lissencephaly in male patients and subcortical band heterotopia (SBH) in female patients. Thickness of the band and severity of pachygyria correlate with the likelihood of developing Lennox-Gastaut syndrome. Mutations of the coding region of XLIS are found in all reported pedigrees and in 50% of sporadic female patients with SBH. Autosomal recessive lissencephaly with cerebellar hypoplasia; accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the RELN gene. Schizencephaly has a wide anatomoclinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Initial reports of heterozygous mutations in the EMX2 gene need confirmation. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to Xq28 in some pedigrees, autosomal recessive inheritance in others, and association with 22q11.2 deletion in some patients. About 65% of patients have severe epilepsy, often Lennox-Gastaut syndrome. Recessive bilateral frontal polymicrogyria has been linked to chromosome 16q12.2-21.
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PMID:Genetic malformations of the cerebral cortex and epilepsy. 1581 77

Several malformation syndromes with abnormal cortical development have been recognized. Specific causative gene defects and characteristic electroclinical patterns have been identified for some. X-linked periventricular nodular heterotopia is mainly seen in female patients and is often associated with focal epilepsy. FLN1 mutations have been reported in all familial cases and in about 25% of sporadic patients. A rare recessive form of periventricular nodular heterotopia owing to ARGEF2 gene mutations has also been reported in children with microcephaly, severe delay, and early-onset seizures. Lissencephaly-pachygyria and subcortical band heterotopia represent a malformative spectrum resulting from mutations of either the LIS1 or the DCX (XLIS) gene. LIS1 mutations cause a more severe malformation posteriorly. Most children have severe developmental delay and infantile spasms, but milder phenotypes are on record, including posterior subcortical band heterotopia owing to mosaic mutations of LIS1. DCX mutations usually cause anteriorly predominant lissencephaly in male patients and subcortical band heterotopia in female patients. Mutations of the coding region of DCX were found in all reported pedigrees and in about 50% of sporadic female patients with subcortical band heterotopia. Mutations of XLIS have also been found in male patients with anterior subcortical band heterotopia and in female patients with normal brain magnetic resonance imaging. The thickness of the band and the severity of pachygyria correlate with the likelihood of developing severe epilepsy. Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the reelin (RELN) gene. X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia in genotypic males is associated with mutations of the ARX gene. Affected boys have severe delay and infantile spasms with suppression-burst electroencephalograms. Early death is frequent. Carrier female patients can have isolated corpus callosum agenesis. Schizencephaly has a wide anatomoclinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Initial reports of heterozygous mutations in the EMX2 gene have not been confirmed. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to chromosome Xq28 in some pedigrees, autosomal dominant or recessive inheritance in others, and an association with chromosome 22q11.2 deletion in some patients. About 65% of patients have severe epilepsy. Recessive bilateral frontoparietal polymicrogyria has been associated with mutations of the GPR56 gene.
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PMID:Neuronal migration disorders, genetics, and epileptogenesis. 1592 Dec 28

The extent of cortical maldevelopment might correlate with the severity of the clinical manifestation, such as cognitive delay or motor dysfunction. The objective of this study was to investigate the clinical features of epilepsy in patients with unilateral and bilateral schizencephaly. We studied 44 consecutive patients with schizencephaly diagnosed by magnetic resonance imaging (MRI). The epileptic features were analyzed in detail: frequency of epilepsy, median age at onset of epilepsy, semiology of seizures, characteristic features of electroencephalographic (EEG) abnormalities, epileptic syndromes, and antiepileptic drug treatment. We also verified the presence of motor disabilities. Data were analyzed according to the presence of unilateral or bilateral clefts and to the presence of open-lip versus closed-lip schizencephaly. We used the chi-square test and Fisher exact test for statistical analysis. Twenty-four patients had a unilateral cleft (group 1) and 20 patients had bilateral clefts (group 2). Ages ranged from 1 to 37 years (mean 10.6 years). Epilepsy was present in 15 (63%) patients in group 1 and in 11 (55%) patients of group 2; a history of status epilepticus occurred in 13% of group 1 and in 27% in group 2; and a history of clusters of seizures occurred in 40% of group 1 and in 45% of group 2. Eight (53%) patients in group 1 and 6 (54%) patients in group 2 were in monotherapy. Ten (67%) patients in group 1 and 7 (64%) patients in group 2 had seizures controlled with antiepileptic drugs. The frequency of EEG abnormalities was similar between groups (75% and 85%, groups 1 and 2, respectively). Statistical analysis showed no difference between the two groups in the variables mentioned above. However, motor disability was significantly more frequent and more severe in group 2. Regarding the type of schizencephaly (open lip versus closed lip), there was no difference in the frequency of patients with epilepsy, and severe motor deficit was more frequently found in bilateral and open-lip schizencephaly. The extent of the cortical maldevelopment in patients with schizencephaly does not correlate with the severity of the clinical and EEG features of epilepsy, unlike the cognitive and motor manifestations. In addition, the type of schizencephaly (open lip versus closed lip) does not correlate with the presence of epilepsy or seizure control, unlike motor deficit.
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PMID:Epileptic features of patients with unilateral and bilateral schizencephaly. 1697 Aug 81

We report a case of a new born who presented with neonatal seizures; and who had coexistence of a Corpus Callosum Agenesis with a bilateral Open lip Schizencephaly and a Dandy Walker malformation. The investigations for an underlying etiology, however was futile.
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PMID:Callosal agenesis and Open lip Schizencephaly. 1700 47

Neuronal migrational disorders form a significant cause of psychomotor delay and intractable epilepsy in children. Pediatric neurology services are available at Sultan Qaboos University Hospital, Muscat, Oman, which is a tertiary care hospital for the whole country. The children undergoing evaluation for developmental delay and epilepsy formed the subjects of the study. Data were analyzed from children found to have neuronal migrational disorders on imaging (computed tomography [CT] or magnetic resonance imaging [MRI]). There were 40 cases of neuronal migrational disorders. Corpus callosum agenesis and lissencephaly or pachygyria formed the major group. There were 22 cases of corpus callosum agenesis, 12 of lissencephaly or pachygyria, 2 of schizencephaly, and 1 each of polymicrogyria, holoprosencephaly, hydranecephaly, and hemimegalencephaly. Nineteen of these 40 (47.5%) cases of neuronal migrational disorders had epilepsy. The break-down was 8 of 22 cases of corpus callosum agenesis (36%), 7 of 12 (58.3%) cases of lissencephaly or pachygyria, and 1 each of polymicrogyria, hydranencephaly, and hemimegalencephaly. The family history of developmental delay, similar to the index case, was present in two children with lissencephaly. However, the brain imaging did not reveal the abnormality. The types of seizures were infantile spasms in five, tonic-clonic in nine, myoclonic in two, partial in one, and mixed in five. Nineteen of 40 cases of neuronal migrational disorders had epilepsy. Only 2 of 19 (10.5%) with epilepsy had good seizure control. This raises the possibility of more and more surgical intervention in the management of such cases. Neuronal migrational disorders are related to exogenous and genetic factors from the 6th to 26th weeks of gestation. Molecular and genetic research is defining the mechanism of these disorders. This could help in early diagnosis, prevention, and eventual gene therapy in such conditions.
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PMID:Pattern of childhood epilepsies with neuronal migrational disorders in Oman. 1709 59

Malformations of cortical development (MCDs) are a common cause of epilepsy, although seizures are not always the most prominent neurologic manifestation of these disorders. In localization-related epilepsy, certain features should create a strong suspicion that an MCD is the underlying cause; these include developmental delay and static focal neurologic deficits, a family history of developmental delay or epilepsy, frequent seizures from onset, and episodes of focal status epilepticus. MCDs can be classified according to a number of different criteria emphasizing clinical phenotype, imaging findings, pathology, or genetic defects. The overall classification of MCDs is based on the 3 fundamental events of cortical formation: 1) proliferation of neurons and glia in the ventricular and subventricular zones; 2) multidirectional migration of immature but postmitotic neurons to the developing cerebral cortex; and 3) cortical organization. Among the most common and distinct syndromes and entities affecting patients with MCDs and epilepsy are focal cortical dysplasia, hemimegalencephaly, tuberous sclerosis, classical lissencephaly, periventricular nodular heterotopia, focal subcortical heterotopia, polymicrogyria, and schizencephaly, all of which are discussed herein.
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PMID:Malformations of cortical development and epilepsy, part 1: diagnosis and classification scheme. 1722 98

The management of patients with epilepsy in rural areas is often hampered by the lack of diagnostic facilities and neuro-radiologists. There are many congenital abnormalities which can present with seizures only, or in combination with other neurological symptoms. This case report examines the occurrence of the rare brain abnormality schizencephaly in a 14 year old boy, following a chain of management errors and incorrect treatments.
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PMID:Clinical case of the late diagnosis of type-II schizencephaly. 1747 41


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