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

Aicardi syndrome is a triad of abnormalities that includes total or partial agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. This syndrome was first described in 1965. A female infant with Aicardi syndrome associated with a nasoethmoidal cephalocele is described in this report. She presented with a history of unilateral nasal discharge since birth and seizures since age 1 week. She was microcephalic and there was visual impairment. A fleshy mass of the left nostril was noted. Ophthalmological evaluation revealed left exotropia, dysplastic optic discs and retina, 'morning glory' appearance of the left optic disc, and bilateral chorioretinal lacunae. Magnetic resonance imaging of the brain showed absence of the corpus callosum, dysmorphic changes of the lateral ventricles, a superiorly located third ventricle, heterotopic grey matter of the frontal lobes, a left nasoethmoidal cephalocele, and closed lip schizencephaly of the left frontal lobe. This female infant developed asymmetric infantile spasms at age 8 weeks. Surgical correction of the cephalocele was declined. She developed recurrent pneumonias secondary to aspiration of feeds and died at age 8 months during one of these events.
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PMID:Aicardi syndrome associated with anterior cephalocele in a female infant. 1751 34

The association between tuberous sclerosis complex and intracranial abnormalities such as hemimegalencephaly, schizencephaly, intracranial arterial aneurysms, and corpus callosum agenesis/dysplasia has been reported in the recent literature. However, the association between tuberous sclerosis complex and bilateral temporal arachnoid cysts has not been reported. A case of an 8-year-old boy with a mental impairment and epileptic seizures that began 5 years earlier is presented. The neuro-radiological findings are consistent with tuberous sclerosis complex associated with bitemporal arachnoid cysts. His epileptic seizures were treated with antiepileptic medications. To the authors' knowledge, this is the first reported case of tuberous sclerosis complex associated with bilateral arachnoid cysts of the temporal region. In such cases, arachnoid cysts may exacerbate the clinical picture.
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PMID:Bilateral temporal arachnoid cysts associated with tuberous sclerosis complex. 1764 Dec 70

Septo-optic dysplasia (SOD) is an uncommon developmental disorder involving variable midline brain structures, characterized by optic nerve hypoplasia, dysgenesis of septum pellucidum, and pituitary-hypothalamic dysfunction such as growth hormone deficiency. The phenotype is highly variable and the clinical presentation may be mild or extremely severe. Other distinct features, which occur especially when cerebral cortical abnormalities are also present (SOD-plus), consist of significant generalized developmental delay and/or spastic motor deficits. We report a case of SOD-plus with mild cortical dysplasia which was revealed to be thickening of bilateral insular cortex without schizencephaly by MRI, and there was no sign or symptom of cortical dysfunction except for one episode of brief seizure.
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PMID:A patient with septo-optic dysplasia plus. 1776 Nov 98

Malformations of cortical development (MCD) form a spectrum of lesions produced by insult to the developing neocortex. Clinical presentation and electrophysiologic findings of MCD are variable and depend on the affected cortical area. We evaluated epilepsy, EEG, and response to antiepileptic treatment in patients with MCD with respect to the neuroimaging findings. We studied 101 patients, ranging between 1 month and 19 years of age. Fifty-four patients were diagnosed with polymicrogyria (PMG), 23 patients with lissencephaly, 12 patients with schizencephaly, and 12 patients with heterotopia. With regards to epilepsy and seizure type, 72/101 (71.3%) patients had epilepsy, and 62/101 (61.4%) patients presented with seizures. Overall, 32.7% of patients had generalized seizures, and 25.7% had complex partial seizures. Mean age at the onset of seizures was 2.7 +/- 3.4 years. The onset of epilepsy tended to be younger in patients with lissencephaly and older in patients with heterotopias. Of the cases, 79.2% had abnormal EEG (56.3% with epileptiform abnormality, 22.9% with non-epileptiform abnormality). EEG was abnormal in 44.9% (13/29) of the cases without epilepsy. EEG showed bilateral synchronous and diffuse epileptiform discharges in 90% of patients with lissencephaly. Patients with schizencephaly had mostly focal epileptiform discharges. Heterotopia cases had a high rate of EEG abnormalities (72.7%). Patients with PMG had epileptiform abnormality in 59.5% of the cases. Patients with heterotopias and PMG achieved better seizure control in comparison with the other groups. In conclusion, epilepsy is the most common problem in MCD. Epilepsy and EEG findings of patients with MCD are variable and seem to be correlated with the extent of cortical involvement.
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PMID:Malformations of cortical development and epilepsy: evaluation of 101 cases (part II). 1790 11

Patients with malformations of cortical development (MCD) present with a wide spectrum of clinical manifestations ranging from asymptomatic cases to those with epilepsy and neurodevelopmental problems. Thorough clinical delineation of patients with MCD may provide clues for future phenotype-genotype correlation studies. We studied clinical features of patients with MCD, including developmental risk factors and family history. We evaluated 10 patients with MCD at Hacettepe University Children's Hospital, Department of Pediatric Neurology. All patients underwent neurological evaluation with detailed medical and family history, and neuropsychological evaluation. Routine EEG and MRI were obtained. The patients were between 1 month and 19 years of age (mean: 6.1 +/- 4.4 years). Fifty-four patients were diagnosed with polymicrogyria (PMG), 23 patients with lissencephaly, 12 patients with schizencephaly, and 12 patients with heterotopia. Parents were relatives in 31.7% of the cases; consanguinity was most common in patients with lissencephaly and other MCDs with diffuse/bilateral involvement. Initial clinical presentation was seizures in 61.4% of the cases, developmental delays in 12.9%, and microcephaly in 9.9%. Neurological evaluation revealed most severe abnormalities in patients with lissencephaly, and relatively better outcome in patients with heterotopias. Cognitive functions were better in patients with heterotopias compared to other groups. Overall, 71.3% of patients ha epilepsy. In conclusion, initial presentation and clinical course of patients with MCD are variable and seem to be correlated with the extent of cortical involvement. Epilepsy and mental retardation are the most common problems. The most severe clinical outcome was seen in patients with lissencephaly.
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PMID:Malformations of cortical development: clinical spectrum in a series of 101 patients and review of the literature (Part I). 1790 10

Schizencephaly is a developmental disorder of the cerebral cortex, usually with seizures occurring before the age of 3. We describe pre-implantation considerations and post-implantation outcome in a child with schizencephaly and bilateral profound hearing loss. Cochlear implantation was performed in the right ear when she was 21 months old. At 4 years and 3 months she developed an epileptic pattern on electroencephalogram and had mild attacks of dysesthesia. Now aged 6, she uses the implant successfully and needs no anticonvulsant medication. Language skills, though delayed, are progressing steadily. We consider that the epileptic pattern was unrelated to the electrical stimulation, and conclude that implantation is not contraindicated in children with cortical anomalies.
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PMID:Case report: cochlear implant in a child with schizencephaly and cortical dysplasia. 1803 37

A 24-year-old man presented with closed-lip schizencephaly around the right central sulcus manifesting as an 11-year history of intractable epilepsy. Mild motor paresis in the left extremities and mental retardation were observed. Tonic posture with bilateral facial tonic contraction was asymmetrical, predominantly in the left extremities. Magnetic resonance imaging demonstrated closed-lip schizencephaly around the right central sulcus. The epileptogenic zone was determined in the supplementary motor area, and premotor and primary sensorimotor cortices using invasive recordings. As the thickened cortex was considered functional, corticectomy of the supplementary motor area and premotor area was performed, preserving the primary sensorimotor area. Histological examination revealed marked cortico-subcortical gliosis, particularly in the medial part of the resection. Asymmetrical tonic postural seizure disappeared completely after surgery. Medically intractable epilepsy with schizencephaly represents a considerable challenge in epilepsy surgery. Partial corticectomy adjacent to the thickened cortex was effective for seizure control in a patient with closed-lip schizencephaly around the central sulcus.
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PMID:Closed-lip schizencephaly around the central sulcus with intractable epilepsy treated by peri-lesional focus resection. 1803 9

Malformations of cortical development (MCDs) are macroscopic or microscopic abnormalities of the cerebral cortex that arise as a consequence of an interruption to the normal steps of formation of the cortical plate. The human cortex develops its basic structure during the first two trimesters of pregnancy as a series of overlapping steps, beginning with proliferation and differentiation of neurons, which then migrate before finally organizing themselves in the developing cortex. Abnormalities at any of these stages, be they environmental or genetic in origin, may cause disruption of neuronal circuitry and predispose to a variety of clinical consequences, the most common of which is epileptic seizures. A large number of MCDs have now been described, each with characteristic pathological, clinical, and imaging features. The causes of many of these MCDs have been determined through the study of affected individuals, with many MCDs now established as being secondary to mutations in cortical development genes. This review will highlight the best-known of the human cortical malformations associated with epilepsy. The pathological, clinical, imaging, and etiologic features of each MCD will be summarized, with representative magnetic resonance imaging (MRI) images shown for each MCD. The malformations tuberous sclerosis, focal cortical dysplasia, hemimegalencephaly, classical lissencephaly, subcortical band heterotopia, periventricular nodular heterotopia, polymicrogyria, and schizencephaly will be presented.
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PMID:Malformations of cortical development and epilepsy. 1847 84

Schizencephaly is a rare congenital cortical brain malformation defined by unilateral or bilateral clefts of the cerebral hemispheres. These malformations are often associated with medically intractable epilepsy. Surgical solutions include lesionectomy, lobectomy, or hemispherectomy. The authors describe the case of an anatomic hemispherectomy for medically intractable epilepsy in an 8-year-old boy with a large schizencephalic cleft. Seven years prior to his epilepsy surgery, the patient underwent placement of a ventriculoperitoneal shunt for communicating hydrocephalus that resulted in severe left-to-right shift. Subsequently, medically refractory epilepsy developed and the patient underwent an anatomic hemispherectomy for seizure control. The preoperative brain shift remained after the surgery, although the patient tolerated the procedure well and was seizure free postoperatively. Anatomic hemispherectomy is a viable option for treating medically intractable epilepsy in a schizencephalic pediatric patient-even one with considerable brain shift.
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PMID:Anatomic hemispherectomy for intractable epilepsy in a patient with unilateral schizencephaly. 1867 23

We describe 3 patients with bilateral operculum syndrome. They presented with various degrees of suprabulbar (pseudobulbar) signs in addition to delay in cognitive, motor, and speech development in 2 children and developmental language disorder in the third one. A patient with schizencephaly in the left perisylvian area and contralateral polymicrogyria had spastic hemiparesis on the right side, whereas another patient showed bilateral underdevelopment of the opercula in association with axial hypotonia and spastic diplegia. Both of them had epileptiform discharges on the electroencephalogram without clinical manifestations of seizures. The magnetic resonance imaging of the third child with developmental language disorder was normal; however, his electroencephalogram showed frequent bilateral subclinical centrotemporal epileptiform discharges, probably responsible for the speech delay. Structural or functional involvement of the opercula bilaterally was a common finding in all the 3 patients and they had symptoms similar to those described in the developmental type of Foix-Chavany-Marie and Worster-Drought syndromes.
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PMID:Bilateral operculum syndrome in childhood. 1919 75


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