Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038220 (status epilepticus)
 7,272 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case is presented of an infant with tuberous sclerosis admitted with status epilepticus. When the seizures were controlled, it was found that the child was hypertensive. A large renal tumor and an abdominal aortic aneurysm was found during the hypertensive evaluation. She underwent abdominal aortic aneurysm resection and radical nephrectomy, and vascular continuity was re-established sucessfully with a Dacron prosthesis. The technique is illustrated. The reconstruction is patent one year following reconstruction. The etiology of the aneurysm is discussed.
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PMID:Abdominal aortic aneurysm and renal hamartoma in an infant with tuberous sclerosis. 127 56

We studied 30 patients with partial epilepsy and a radiological or pathological diagnosis of localized neuronal migration disorders, with a view to surgical treatment. Eight patients had identifiable prenatal etiological factors. The frequency of complex partial, partial motor, and secondarily generalized seizures was approximately 70% each. Drop attacks were present in 27%: Their presence usually correlated with a lesion involving the central region. Partial motor or generalized convulsive status epilepticus occurred in 30%, and was most frequently associated with extensive structural abnormalities involving two or more lobes. A full-scale intelligence quotient of less than 80 was found in 44%. Magnetic resonance imaging (MRI) was superior to computed tomography for identification of the dysplastic cortical lesions. In one third, MRI showed only subcortical abnormalities. It did not allow distinction between true pachygyria, focal cortical dysplasia, or the forme fruste of tuberous sclerosis. The epileptogenic area was usually more extensive than the lesion; it was multilobar in more than 70% of patients. Of 26 surgically treated patients, a histological diagnosis of the type of neuronal migration disorder was possible in 22: 12 had focal cortical dysplasia and 10 the forme fruste of tuberous sclerosis. In the remaining 4, no definite histological diagnosis was made, since the maximally abnormal tissue could not be examined. In the latter, and in the 4 nonoperated patients, the diagnosis of neuronal migration disorder was based on imaging findings. The presence of the forme fruste of tuberous sclerosis correlated with delayed psychomotor development and more extensive epileptogenic areas.
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PMID:Focal neuronal migration disorders and intractable partial epilepsy: a study of 30 patients. 178 91

Of the 355 patients with tuberous sclerosis complex (TSC) examined at the Mayo Clinic, 49 had died (9 of causes other than TSC). We attempted to determine what pattern of organ involvement occurred most often in the 40 patients who died of TSC. One baby died of cardiac failure due to cardiac rhabdomyomas, and one child died of rupture of an aneurysm of the thoracic aorta. Eleven patients died of renal disease, which was the commonest cause of death. Ten patients died as a result of brain tumors, and four patients (who were 40 years of age or older) died of lymphangiomyomatosis of the lung. Thirteen patients with severe mental handicaps died of either status epilepticus or bronchopneumonia; in all but one of these patients, the only source of information was the death certificate. Survival curves show a decreased survival for patients with TSC in comparison with that for the general population. Patients with TSC need lifelong follow-up for early detection of potentially life-threatening complications.
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PMID:Causes of death in patients with tuberous sclerosis. 186 50

The complex relationship between epilepsy, language, and behavior is not well understood. Neurologic disorders such as Landau-Kleffner syndrome, electrical status epilepticus during slow-wave sleep, infantile spasms, Lennox-Gastaut syndrome, tuberous sclerosis, autism, and developmental language disorders are useful clinical models in the investigation of this complex relationship. These disorders are reviewed in terms of their contribution to our present knowledge of the relationship between epilepsy, language, and behavior. Present management issues and directions for future research are discussed.
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PMID:Epilepsy, language, and behavior: clinical models in childhood. 751 8

Cerebral cortical dysgenesis (CD) is a heterogeneous disorder of cortical development and organization commonly associated with epilepsy, with a variety of subtypes. We reviewed the clinical, EEG and neuroimaging features in 100 adult patients with CD. There were 39 men and 61 women with a median age of 27 years (range 15-63 years). All patients were referred because of medically refractory epilepsy. Median age at seizure onset was 10 years (range 3 weeks to 39 years); in 30 patients, onset was in adulthood. The epilepsy was classified as generalized in 16 patients and localization-related in 84. Of the latter, the epileptic syndromes in decreasing frequency were frontal (32%), temporal (31%), parietal (14%) and occipital (7%). Only 15% of patients had a history of status epilepticus. Prenatal/perinatal problems were reported in 32 patients but these were severe in only four: exposure to drugs (three) and infection (one) during the first trimester. Delayed developmental milestones were seen in 10%, mental retardation in 9%, additional congenital abnormalities in 4% and neurological deficits in 14% of patients. Diagnosis of CD was based on neuroimaging in 70, pathology in four and both methods in the remaining 26. The following subcategories were identified: agyria/diffuse macrogyria (four patients), focal macrogyria (16), focal polymicrogyria (one), focal macrogyria/polymicrogyria associated with a cleft (11), minor gyral abnormalities (seven), subependymal grey matter heterotopia (20), bilateral subcortical laminar grey matter heterotopia (eight), tuberous sclerosis (five), focal cortical dysplasia/microdysgenesis (seven) and dysembryoplastic neuroepithelial tumours (DNT) (21). Sixty-eight percent of patients had normal CT and 19 out of 36 patients had normal previous conventional MRI. MRI-based hippocampal volume measurements in 47 patients revealed ratios (smaller: larger hippocampus) of < 0.90 in 16, 0.90-0.94 in 14 and > or = 0.95 in 17 patients. EEGs were normal in only five patients. Alpha rhythm was preserved in 78 patients, including one patient with bilateral posterior macrogyria. Localized polymorphic slow activity was present in 43 patients. Five of 68 patients with focal/unilateral CD had only bilateral independent/synchronous spiking and 14 out of 32 with diffuse/bilateral CD only focal/unilateral spiking. In 60 patients with nondiffuse CD or with abnormal gyration or DNT, the epileptiform abnormalities were less extensive than coextensive with the lesion in 28, more extensive than and overlapped the lesion in 18 and remote from the lesion in five; nine patients did not have epileptiform abnormalities. There was poor correlation between the epileptic syndromes and EEG abnormalities and the location/extent of CD as defined by MRI and pathology.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Abnormalities of gyration, heterotopias, tuberous sclerosis, focal cortical dysplasia, microdysgenesis, dysembryoplastic neuroepithelial tumour and dysgenesis of the archicortex in epilepsy. Clinical, EEG and neuroimaging features in 100 adult patients. 760 83

A 2-day old girl with status epilepticus, unresponsive to maximum pharmacological intervention, is reported. Findings of brain and cardiac lesions pointed to the diagnosis of tuberous sclerosis. One of the brain lesions was unusually large, occupying most of the right temporo-parietal lobe.
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PMID:Neonatal tuberous sclerosis presenting with intractable seizures. 794 16

Patients with partial seizures aged 1 week to 19 years (n = 175) were included in several prospective vigabatrin studies at the hospital Saint Vincent de Paul. A decrease in seizure frequency of over 50% was achieved in 70% of patients, with 30% becoming seizure free, and only 6% experiencing an increase. Tuberous sclerosis gave the best response (85%), tumors the lowest (45%), the usual figure for other causes being 70%. Patients with malformations were the most likely to experience seizure increase. Regarding topography of focus, the lowest rate of seizure-free patients was in rolandic foci. Early treatment produced better results. Infants experienced the highest rate of response, but also of relapse, the latter occurring mainly between 6 months and 1 year. The incidence of loss of efficacy depended on etiology and topography of focus, tumors and frontal foci having the highest risk. Occurrence of new seizures was more frequent in young patients with tuberous sclerosis, the third experiencing status epilepticus. Vigabatrin monotherapy could only be achieved in 33% of seizure-free patients, reduction of comedication being a risk of relapse and of further intractability.
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PMID:Vigabatrin in partial seizures in children. 913 90

To clarify the characteristics of refractory childhood epilepsy, we compared recent refractory cases and those of approximately 15 years ago, all of which were seen at the Okayama University Hospital. We also analyzed predictive factors related to refractoriness in the recent refractory cases. Among the recent refractory cases, the proportion of localization-related epilepsies increased, and the proportion of generalized epilepsies decreased compared to historical cases. In generalized epilepsies, the proportion of cases with Lennox-Gastaut syndrome decreased to less than half. In localization-related epilepsies, the proportion of cases with frontal lobe epilepsy increased. The proportion of cases with unknown causes decreased to less than half. Of the cases with known causes, postencephalitis/postencephalopathy and focal cortical malformation, including tuberous sclerosis, accounted for most of the cases. More of the recent refractory cases were treated with high-dose AED monotherapy, compared to more polytherapy in the cases of 15 years earlier. The following factors were related to future refractoriness: less than 1 year of age at onset of seizures, the presence of underlying pathology, status epilepticus. changes in type of epilepsy during the clinical course, and neonatal seizures. Regarding EEG findings of cases that had localization-related epilepsies at the end of follow-up, focal spike-waves associated with diffuse spike-waves on the first EEGs indicated future refractoriness.
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PMID:Refractory childhood epilepsy and factors related to refractoriness. 1115 2

Early surgical removal of a dysplastic hemisphere appears to be beneficial for neonates with hemimegalencephaly and medically resistant seizures. We analyzed the changes in the cerebral regional oxygen saturation index in a neonate with tuberous sclerosis and right hemimegalencephaly (1) during seven episodes of right hemisphere electroencephalographic status epilepticus with and without clinical manifestations and (2) after right hemispherectomy. The cerebral regional oxygen saturation index demonstrated marked fluctuations and progressive decline in both hemispheres during the episodes and normal values in the remaining hemisphere after surgery. We speculate that decreased oxygenation of the nonepileptic cerebral hemisphere in patients with hemimegalencephaly and medically resistant seizures can contribute to the production of global neurologic impairments in these patients and that the benefits of early hemispherectomy are due to the improved oxygenation of the nondysplastic hemisphere following surgery.
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PMID:Bilateral decreased oxygenation during focal status epilepticus in a neonate with hemimegalencephaly. 1522 15

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


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