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)

Malformations of cortical development (MCD) are important causes of chronic epilepsy. MCD encompass many varied disorders with diverse clinical manifestations. Schizencephaly, one of the MCD, is known to be complicated by various types of epilepsy, most of which are intractable. We treated a 28-year-old man with epilepsy, characterised by unprovoked generalised tonic-clonic seizures accompanied by MCD. Brain MRI detected multiple malformations including septum pellucidum defect, partial corpus callosum defect, schizencephaly, right hippocampal atrophy, cerebellar atrophy and cerebellum atrophy. 99m Tc-ethylcysteinate dimer single photon emission CT showed decreased cerebral blood flow (CBF), and the morphology of CBF defects overlapped with the anomalous findings on MRI. The clinical outcome of the patient was good despite his severe brain malformations. Although the reason of this discrepancy is unclear, the outcomes of social function and epileptic seizures may be relatively good despite severe MCD in some patients.
 ...
PMID:Malformations of cortical development with good clinical outcome: a case report and review of literature. 2274 56

Schizencephaly is a rare and severe congenital brain defect. Its etiology is not unequivocal and its clinical course differs with every case. The aim of the study was to analyze correlations between clinical and radiologic features of schizencephaly in Polish patients. The study group consisted of 25 children. Epileptic seizures were observed in 60% of cases and in 32% epilepsy was drug resistant. Generalized hypotonia was found in 24%, spastic diparesis in 48%, and spastic hemiparesis in 28% of cases. Seizures were more frequent in the bilateral than unilateral schizencephaly subgroup (72% vs 29%, P = .045). There was a correlation between the presence of the bilateral type II schizencephaly and the occurrence of seizures (P = .002, r = 0.578). There is a correlation between the type of schizencephaly and the presence of seizures in Polish pediatric patients. In most of the patients, schizencephaly leads to developmental retardation and epileptic seizures.
 ...
PMID:Clinical and radiologic features of unilateral and bilateral schizencephaly in polish pediatric patients. 2350 83

Schizencephaly is a rare malformation of the central nervous system defined as a gray matter-lined cleft filled with cerebrospinal fluid that extends from the pial surface to the ventricle. Few cases of association with psychosis were reported in the scientific literature. We present a case of a 46-year-old woman, admitted into a psychiatric hospital with crises of psychomotor agitation, disorganized and erotized behavior, persecutory and self-reference delusions, and auditory and visual hallucinations. She also reported seizures since her childhood. A head CT scan revealed a large subarachnoid space communication with the adjacent lateral ventricle in the topography of occipital, temporal, and parietal lobes to the right, suggestive of schizencephaly.
...
PMID:Schizencephaly and psychosis: a rare association. 2445 92

Schizencephaly is a rare malformation of the central nervous system. Both genetic and non-genetic etiologies like prenatal infections or ischemia have been postulated. Clinical manifestations most often include varying degrees of developmental delay, motor impairment and seizures. It can be associated with septo-optic dysplasia (SOD), optic nerve hypoplasia and absence of septum pellucidum, pachygyria, polymicrogyria, heterotopia and arachnoid cysts. We report a case of unilateral closed lip schizencephaly with SOD.
...
PMID:Unilateral closed lip schizencephaly with septo-optic dysplasia. 2476 Dec 55

MRI and CT are important for the diagnosis and treatment of epilepsy. Diffusion-weighted images are particularly useful for detecting early changes in the brain. In this article, I reviewed radiological findings associated with seizures (reduced diffusion and swelling of hippocampus and cortex, and a reversible splenial lesion), and lesions causing epilepsy and seizures, such as congenital abnormality of the brain (holoprosencephaly, hemimegalencephaly, lissencephaly, heterotopia, polymicrogyria, schizencephaly, and focal cortical dysplasia), neurocutaneous syndromes (tuberous sclerosis and Sturge-Weber syndrome), vascular disorders (moyamoya disease/syndrome and cavernous angioma), and encephalitis/encephalopathy (herpes encephalitis, anti-NMDA receptor encephalitis, acute necrotizing encephalopathy of childhood, and acute encephalopathy with biphasic seizures and late reduced diffusion).
 ...
PMID:[MRI and CT in the diagnosis of epilepsy]. 2491 81

Schizencephaly is an uncommon malformation of cortical development. Patients with schizencephaly present with a broad range of severe neurologic symptoms including pharmacoresistant epilepsy. Rufinamide is a new antiepileptic drug approved for use as adjunctive therapy of seizures associated with Lennox-Gastaut syndrome and it is also effective for refractory partial seizures. We report 3 cases of pediatric patients aged 7.2, 8.1, and 10.1 years, respectively, with intractable epilepsy associated with bilateral open-lip schizencephaly and septo-optic dysplasia. The follow-up ranged from 3.8 to 4.1 years. In our patients, the introduction of rufinamide as adjunctive drug led to a dramatic decline in the number of seizures and an improvement in EEG epileptic activity without side effects. Rufinamide seems to be efficacious and safe in patients with epileptic encephalopathies associated with pharmacoresistant epilepsy; further and larger clinical reports and controlled studies could confirm the usefulness of this anticonvulsant drug.
 ...
PMID:Successful Treatment of Refractory Seizures With Rufinamide in Children With Schizencephaly: Report of 3 Cases. 2505 69

Pharmaco-resistant epilepsies, and also some neuropsychiatric disorders, are often associated with malformations in hippocampal and neocortical structures. The mechanisms leading to these cortical malformations causing an imbalance between the excitatory and inhibitory system are largely unknown. Animal models using chemical or physical manipulations reproduce different human pathologies by interfering with cell generation and neuronal migration. The model of in utero injection of methylazoxymethanol (MAM) acetate mimics periventricular nodular heterotopia. The freeze lesion model reproduces (poly)microgyria, focal heterotopia and schizencephaly. The in utero irradiation model causes microgyria and heterotopia. Intraperitoneal injections of carmustine 1-3-bis-chloroethyl-nitrosurea (BCNU) to pregnant rats produces laminar disorganization, heterotopias and cytomegalic neurons. The ibotenic acid model induces focal cortical malformations, which resemble human microgyria and ulegyria. Cortical dysplasia can be also observed following prenatal exposure to ethanol, cocaine or antiepileptic drugs. All these models of cortical malformations are characterized by a pronounced hyperexcitability, few of them also produce spontaneous epileptic seizures. This dysfunction results from an impairment in GABAergic inhibition and/or an increase in glutamatergic synaptic transmission. The cortical region initiating or contributing to this hyperexcitability may not necessarily correspond to the site of the focal malformation. In some models wide-spread molecular and functional changes can be observed in remote regions of the brain, where they cause pathophysiological activities. This paper gives an overview on different animal models of cortical malformations, which are mostly used in rodents and which mimic the pathology and to some extent the pathophysiology of neuronal migration disorders associated with epilepsy in humans.
...
PMID:Models of cortical malformation--Chemical and physical. 2585 77

Schizencephaly is a rare malformation of cortical development resulting from cell migration defects that occur unilaterally or bilaterally. The type of the schizencephalic cleft can be open lip or closed lip. Patients suffering from refractory seizures secondary to schizencephaly should be considered for surgical treatment. In this paper, we retrospectively analyzed two patients with confirmed schizencephaly and intractable seizures. The evaluation methods included a medical history assessment, a neurological examination and magnetic resonance imaging (MRI). Continuous intracranial video-electroencephalogram (vEEG) monitoring with surface electrodes and deep electrodes was evaluated to confirm the epileptogenic zones associated with the schizencephalic lesions. Cortical electrical stimulation was performed to evaluate the neurophysiology of the relevant brain regions. Epileptic focus resection was performed close to the schizencephalic cleft according to the results of intracranial EEG and stimulation while preserving neurological functions. MRI revealed bilateral open lip schizencephaly in one patient and closed lip schizencephaly in the other patient. The epileptogenic zones were localized close to the schizencephalic clefts. The seizure outcome was Engel's class Ia in both patients at 1-year follow-up. No significant neurological deficits were found, and their activities of daily life were significantly improved. We conclude that abnormal cortex near the schizencephalic clefts may display an extrinsic epileptogenicity. Accurate localization of the epileptogenic zones using intracranial EEG and electrical stimulation can lead to a seizure-free outcome in patients with refractory epilepsy associated with schizencephaly.
...
PMID:Successful surgery for refractory seizures associated with bilateral schizencephaly: two case reports and literature review. 2696 18

Schizencephaly is a congenital condition characterized by cerebrospinal fluid-filled clefts that extend from the pia surface of the cerebral hemisphere to the ependymal surface of the ventricle. Magnetic resonance imaging is the modality of choice for its diagnosis. Very few cases have been described in the literature in this environment. Here, we present an 18-month-old male child who presented in a tertiary hospital in Port Harcourt, Rivers State in Nigeria with 6 months history of recurrent seizures. A cranial MRI done revealed that he had right unilateral opened lip schizencephaly.
 ...
PMID:Schizencephaly: A case report and review of literature. 2709 48

Cortical 'clefts' (schizencephaly) and cortical 'bumps' (polymicrogyria) are malformations arising due to defects in postmigrational development of neurons. They are frequently encountered together, with schizencephalic clefts being lined by polymicrogyria. We present the case of an eight-year-old boy who presented with seizures. Imaging revealed closed lip schizencephaly, polymicrogyria and a deep 'incomplete' cleft lined by polymicrogyria not communicating with the lateral ventricle. We speculate that hypoperfusion or ischaemic cortical injury during neuronal development may lead to a spectrum of malformations ranging from polymicrogyria to incomplete cortical clefts to schizencephaly.
...
PMID:Cortical Clefts and Cortical Bumps: A Continuous Spectrum. 2763 Sep 23


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