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

Neuronal migration disorders are an heterogeneous group of disorders of nervous system development and they are considered to be one of the most significant causes of neurological and developmental disabilities and epileptic seizures in childhood. In the last ten years, molecular biologic and genetic investigations have widely increased our knowledge about the regulation of neuronal migration during development. One of the most frequent disorders is lissencephaly. It is characterized by a paucity of normal gyri and sulci resulting in a "smooth brain". There are two pathologic subtypes: classical and cobblestone. Classical lissencephaly is caused by an arrest of neuronal migration whereas cobblestone lissencephaly caused by overmigration. Heterotopia is another important neuronal migration disorder. It is characterized by a cluster of disorganized neurons in abnormal locations and it is divided into three main groups: periventricular nodular heterotopia, subcortical heterotopia and marginal glioneural heterotopia. Polymicrogyria develops at the final stages of neuronal migration, in the earliest phases of cortical organization; bilateral frontoparietal form is characterized by bilateral, symmetric polymicrogyria in the frontoparietal regions. Bilateral perisylvian polymicrogyria causes a clinical syndrome which manifests itself in the form of mild mental retardation, epilepsy and pseudobulbar palsy. Schizencephaly is another important neuronal migration disorder whose clinical characteristics are extremely variable. This review reports the main clinical and pathophysiological aspects of these disorders paying particular attention to the recent advances in molecular genetics.
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PMID:New trends in neuronal migration disorders. 1926 20

A 55-year-old man with congenital hemiparesis of the right side, three episodes of generalised tonic-clonic seizure at 16 years of age, and two episodes of severe depression and two episodes of hypomania in the past, presented with severe depression with psychotic symptoms. Computed tomography of the brain showed a grey matter-lined cerebrospinal fluid-filled cleft in the left cerebral hemisphere, involving the temporoparietal region. He was diagnosed to have bipolar II disorder, and was currently severely depressed with psychotic symptoms and schizencephaly. He improved with sodium valproate 1,000 mg/day, quetiapine 450 mg/day and escitalopram 20 mg/day after three weeks without any emergent side effects, and was maintaining well at three months follow-up. Although uncommon, schizencephaly may be considered as one of the differentials in cases of bipolar disorder along with congenital hemiparesis, mental retardation and/or seizures; and neuroimaging should be done to confirm the diagnosis.
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PMID:Schizencephaly associated with bipolar II disorder. 1929 19

A wide spectrum of intracranial injuries has been described as complicating difficult birth, particularly following instrumental delivery. We describe five children in whom isolated cortical tears were observed on MRI. Four cases were characterised by a difficult instrumental delivery. None of the children developed long-term neurological sequelae. As far as we are aware, isolated cerebral cortical tears have not been reported previously although recognition of this injury pattern is important because of its possible misinterpretation as a marker of a non-accidental head injury. Other differential diagnoses that should be considered include cerebral infarcts, schizencephaly and accidental head injury. The importance of high-quality cross-sectional brain imaging in newborn infants with seizures is emphasised.
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PMID:Isolated cerebral cortical tears in children: aetiology, characterisation and differentiation from non-accidental head injury. 1939 65

We report on siblings with probable Adams-Oliver syndrome. The older brother had symmetric intra-uterine growth retardation, plagiocephaly, a cardiac defect and periventricular calcification. The younger sister was born with abdominal and scalp skin defects and small fingers and toes. Prenatal cranial imaging in the younger sibling suggested possible bilateral closed lip schizencephaly and neuronal migrational defect. These siblings are thought to have Adams-Oliver syndrome with the older sibling's features at the milder end of the spectrum while the younger sibling is more severely affected. Several case reports have been published discussing the clinical variability and the possibility of autosomal recessive inheritance. Recently reports suggest an increased frequency of seizures and central nervous system involvement in autosomal recessive Adams-Oliver syndrome. We report affected siblings born to healthy non-consanguineous parents and review previously published similar sibships and case reports in relation to the clinical features.
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PMID:Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome. 1941 63

We report on a 2-year-old boy with facial dysmorphism, multiple lentigines, and hypertrophic cardiomyopathy. Mutation analyses of the patient and his mother revealed a Y279G mutation in exon 7 of the PTPN11 gene. The presence of LEOPARD syndrome was confirmed by a genetic study and clinical phenotypes. Since age 18 months, the patient had manifested frequent seizures that were poorly controlled by multiple anticonvulsants. Neurologic examinations indicated severe developmental delay and sensorineural deafness. Brain imaging demonstrated open-lip schizencephaly in the right frontoparietal area. Central nervous system anomalies are rarely reported in this disease. To the best of our knowledge, this is the first report of LEOPARD syndrome with associated schizencephaly. Psychomotor retardation is not uncommon in LEOPARD syndrome. We advocate brain-imaging studies of patients with LEOPARD syndrome and neurologic abnormalities such as developmental delay or epilepsy.
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PMID:Schizencephaly in LEOPARD syndrome. 1952 Feb 82

Epilepsy is the most common neurological disorder affecting young people. The etiologies are multiple and most cases are sporadic. However, some rare families with Mendelian inheritance have provided evidence of genes' important role in epilepsy. Two important but apparently different groups of disorders have been extensively studied: epilepsies associated with malformations of cortical development (MCDs) and epilepsies associated with a structurally normal brain (or with minimal abnormalities only). This review is focused on clinical and molecular aspects of focal cortical dysplasia, polymicrogyria, periventricular nodular heterotopia, subcortical band heterotopia, lissencephaly and schizencephaly as examples of MCDs. Juvenile myoclonic epilepsy, childhood absence epilepsy, some familial forms of focal epilepsy and epilepsies associated with febrile seizures are discussed as examples of epileptic conditions in (apparently) structurally normal brains.
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PMID:Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain. 1953 65

Schizencephaly is a rare neuromigrational/organizational disorder characterized by the development of cerebral clefts, which are typically associated with neurological sequelae including seizures, motor disturbances, and cognitive dysfunction. Although there are multiple case reports of schizencephaly and associated neurological sequelae, primarily in children, the literature regarding neuropsychological manifestations of schizencephaly is limited. This article reviews the case of a woman diagnosed with bilateral schizencephaly at age 29. Neuropsychological testing revealed intact intelligence and memory functioning. However, impairments were noted in attention, executive functioning, expressive language skills, visual-spatial abilities, and bilateral manual motor skills, all of which were adversely impacting her functional abilities (e.g., ability to be gainfully employed). Given the potential variability in deficits associated with schizencephaly, this case demonstrates the utility of neuropsychological evaluation for understanding cognitive and functional consequences of bilateral schizencephaly.
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PMID:Neuropsychological functioning in a young adult case of schizencephaly. 2033 80

Migration disorders (MD) are increasingly recognized as an important cause of epilepsy and developmental delay. Up to 25 % of children with refractory epilepsy have a cortical malformation. MD encompass a wide spectrum with underlying genetic etiologies and clinical manifestations. Research regarding the delineation of the genetic and molecular basis of these disorders has provided greater insight into the pathogenesis of not only the malformation but also the process involved in normal cortical development. Diagnosis of MD is important since patients who fail three antiepileptic medications are less likely to have their seizures controlled with additional trials of medications and therefore epilepsy surgery should be considered. Recent improvements in neuroimaging have resulted in a significant increase in the recognition of MD. Findings can be subdivided in disorders due to abnormal neurogenesis, neuronal migration, neuronal migration arrest and neuronal organization resulting in different malformations like microcephaly, lissencephaly, schizencephaly and heterotopia. The examination protocol should include T 1-w and T 2-w sequences in adequate slice orientation. T 1-w turbo-inversion recovery sequences (TIR) can be helpful to diagnose heterotopia. Contrast agent is needed only to exclude other differential diagnoses.
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PMID:[Developmental malformations of the cerebral cortex]. 2041 8

Congenital cytomegalovirus (CMV) infection is the most common vertically transmitted disease with the rate of the infection ranging from 0.2 to 2.4% in newborn infants. Congenital CMV infection causes multiorgan affection, but the most severe and permanent sequelae are those affecting central nervous system such as mental retardation, cerebral palsy, sensorineural hearing loss, chorioretinitis and seizures as a result of direct interference of the virus with neurogenesis. The time of acquiring infection is strongly connected to the level of child's disability. Infection in early pregnancy results in severe neurological sequelae, while later infection has less prominent signs. Radiological findings show connection between onset of infection and brain imaging, from lissencephaly, pachygyria, polymicrogyria, schizencephaly, calcification, cerebellar hypoplasia and/or hypoplasia/agenesis of corpus callosum as a result of an early infection, to white matter abnormalities including disturbed myelination as a result of a late infection. We present nine patients with proven congenital CMV infection and malformations of cortical development and their computed tomography/magnetic resonance (CT/MRI) findings along with clinical assessments. According to CT/MRI results we assume that two of our children with lissencephaly had an early onset of infection. The other seven with less severe cortical dysplasia in form of pachy/polymicrogyria were probably infected later Cerebellar hypoplasia and/or calcifications in our patients also confirm an early onset of infection. Developmental outcome in all of our children was poor: moderate to severe psychomotor retardation has been diagnosed in all children; five of them have developed cerebral palsy (four have bilateral spastic and one dyskinetic) and one is estimated to have minor motor dysfunction. Seven out of nine developed epilepsy, chorioretinitis was found in three of them and sensorineural deafness in two of them. All of our children, except one, were presented by symptomatic infection, yet only four of them were recognized at birth. Therefore, congenital CMV infection should be considered as one of the reasons for childhood disability more often.
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PMID:Malformations of cortical development in children with congenital cytomegalovirus infection - A study of nine children with proven congenital cytomegalovirus infection. 2164 39

The epileptic characteristics and their differences in patients with porencephaly and schizencephaly were, respectively, evaluated. Eleven patients with porencephaly and eight patients with schizencephaly were retrospectively enrolled in this study. Five of the six patients with extensive porencephaly and all five patients with open-lip schizencephaly had been suffering from various types of epileptic seizures. Three patients with extensive porencephaly and all five patients with open-lip schizencephaly had presented with early onset seizures before 9 months of age. Two patients with extensive porencephaly and three patients with open-lip schizencephaly had presented with West syndrome. These two groups of patients with epileptic seizures showed generalized epilepsy or generalized epilepsy with unilateral dominancy at the onset, and then developed localization-related epilepsy or unilateral seizures with increasing age. The epileptic paroxysms showed multifocal independent spikes, which were not always localized in the defect or cleft sites at the last examination. Polytherapy or synergistic combinations were eventually introduced for these intractable seizures in both groups for patients without any evidence of efficacy. In the porencephaly patients, four of five patients achieved good seizure control with appropriate monotherapy or two-drug therapy including valproate. All five patients with schizencephaly had been treated by polytherapy, and three of them had persistent intractable seizures in spite of trying rational monotherapy or two-drug therapy. The epileptic intractability associated with open-lip schizencephaly might be related to the epileptogenesis of these extensive and widespread defective lesions, which were commonly associated with cortical dysplasia. A trial of rational monotherapy or two-drug therapy may be effective, rather than larger-number polytherapy in many cases, more in porencephaly than schizencephaly.
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PMID:The differences in epileptic characteristics in patients with porencephaly and schizencephaly. 2202 97


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