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Query: UMLS:C0038220 (status epilepticus)
 7,272 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ring chromosome 20 (RC20) is a rare chromosomopathy characterized by slight mental deficiency, behavioral disorders and epilepsy. We report two cases of ring chromosome 20, who exhibited non convulsive status epilepticus lasting minutes to hours, often triggered by emotional events, with associated typical electroencephalographic features. Our report highlights the features of the electroclinical epilepsy syndrome associated with RC20, which represents a distinct and recognizable entity. The genetic basis of this disorder is discussed.
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PMID:[Ring chromosome 20: an identifiable epileptic syndrome]. 1074 13

Whether seizures are the direct cause of cognitive deterioration in epileptic children is undetermined. This retrospective study aimed to delineate a subgroup of pediatric patients with cognitive deterioration and refractory seizures in the absence of recognized causes for mental retardation. Of the 80 children identified as having mental retardation and refractory seizure disorder, seven (8.7%) had normal cognitive development until at least 1 year of age. Their metabolic status was normal. Five of them suffered repeated frequent partial seizures with onset in the first year of life and two had repeated episodes of status epilepticus. All seven had similar characteristics of early onset partial seizures, six of them had partial seizures secondarily generalized and one had complex partial seizures. The time of peak cognitive deterioration correlated with increases in seizure frequency during that period. Evaluation revealed a well-defined epileptic focus in the absence of neuroimaging abnormality except for hippocampal atrophy in the two children with complex partial seizures and a small vascular malformation in one child. Uncontrolled partial seizures in the first months of life may result in cognitive deterioration.
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PMID:Mental retardation subsequent to refractory partial seizures in infancy. 1076 31

Epileptic encephalopathy, a major neurologic disorder, leads to upper motor involvement and epilepsy. Its clinical expression varies according to cerebral maturity and etiology. Epilepsy manifests by spasms, partial seizures or myoclonia in the newborn, essentially by spasms in the infant, but also by myoclonia or sometimes by multifocal partial seizures. In the child, epileptic seizures have a more varied expression: atypical loss of contact, tonic or tonic-clonic seizures, myoclonia and sometimes status epilepticus. Inter-seizure electroencephalograms of patients of all ages show severe diffuse, constant anomalies. These epilepsies are associated with delayed development, mental retardation and behavioural disorders, requiring appropriate treatment as early as possible.
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PMID:[Epileptic encephalopathies]. 1088 99

We report the clinical history and the video-EEG recordings of three young adults with r(20), who exhibited repeated episodes of non-convulsive status epilepticus, often triggered by emotional events. This recognizable clinical entity associates a slight mental deficiency, behavioural disorder and epilepsy, often resistant to treatment and with a particular clinical presentation. We demonstrate with video EEG recording, atypical absence status triggered by emotional behaviour with ictal EEG characterized by bifrontal slow waves, often rhythmic, or sharp waves. Our report highlights the characteristic features of non-convulsive status in this electro-clinical syndrome.
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PMID:Non-convulsive status in the ring chromosome 20 syndrome: a video illustration of 3 cases. 1093 60

Lennox-Gastaut syndrome (LGS) is one of the most severe types of childhood epilepsy. It is usually resistant to treatment and associated with mental retardation. To delineate the risk factors associated with the outcome of LGS, we evaluated, in a retrospective and multicentre study, the course of the disease, EEG tracings, and intellectual function in 101 patients. Inclusion criteria were the presence of tonic seizures as well as slow spike and wave complexes in the EEG. The average documented observation period was 16 years (range 4-31 years). Overall, the intellectual and neurological outcome was poor. At the last follow-up, 38% of the patients could not speak, 21% were unable to walk and only 4% were free of seizures. Four independent risk factors for severe mental retardation were identified by multivariate analysis. These were in a decreasing order of importance: nonconvulsive status epilepticus (NCSE), odds ratio (OR) 25.2, a previous diagnosis of West syndrome (OR 11.6), a symptomatic etiology of epilepsy (OR 9.5), and an early age at onset of epilepsy (OR 4.7). The results highlight the association between NCSE and the severity of mental retardation in patients with LGS; this association appears to be independent of symptomatic etiology. Our data provide an indirect evidence that, at least in some of the patients, NCSE is not only a concomitant feature, but also a cause of severe mental retardation.
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PMID:Nonconvulsive status epilepticus--a possible cause of mental retardation in patients with Lennox-Gastaut syndrome. 1107 Nov 39

The medical management of epilepsy in the multi-handicapped patient requires careful evaluation, classification, and pharmacologic treatment. It is estimated that 20-40% of patients with mental retardation and cerebral palsy have epilepsy. This review reports the clinical trial data and personal experience related to the use of newer AEDs in the chronic management of epilepsy syndromes in children and adults, as well as information available on the treatment of seizures in individuals with mental retardation and associated handicaps. Furthermore, clusters of seizures, prolonged seizures and status epilepticus are more commonly seen in the multiply handicapped and mentally retarded population and require special attention. The new antiepileptic drugs felbamate, gabapentin, lamotrigine, levetiracetam, oxcarbazepine, tiagabine, topiramate, vigabatrin and zonisamide show specific advantage in some multiply handicapped patients, be it for seizure control or medication tolerance. Furthermore, new modalities of treatment for prolonged seizures allow better efficacy both outside of hospital and within hospital facilities. The treatment of epilepsy in multi-handicapped and retarded adults and children has significantly advanced in the past few years, and much of this improvement can be attributed to improved knowledge and monitoring of new antiepileptic drugs. Conventional anticonvulsants remain first line therapy for most clinicians, but newer AEDs must broaden the therapeutic option and do allow improved therapy for some multiply handicapped patients.
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PMID:Treatment of epilepsy in the multiply handicapped. 1110 96

The classification of benign partial epilepsies and related conditions includes (besides rolandic epilepsy) atypical benign partial epilepsy, bioelectrical status epilepticus (ESES) and a variety of other syndromes. The broad overlap of the clinical and bioelectrical symptomatology might reflect a pathogenetic background common to these epilepsies. In order to understand the great phenotypic variability, the clinical symptomatology in 56 sibships with focal sharp waves of genetic origin was analyzed. A genetic determination was assumed if, in addition to the index case, at least one sibling or offspring revealed typical focal sharp waves. The 56 index-cases and their 61 sib/offspring/parents showed a broad spectrum of epileptic and non-epileptic conditions ranging from mild selective performance deficits to severe complex mental retardation, from neonatal seizures, febrile convulsions, and simple rolandic epilepsy to severe epilepsies with minor seizures or ESES. The different conditions are not disease entities but sets of variably weighted symptoms of a complex pathogenetic background, in which a genetic disposition to focal anomalies of brain function is of decisive importance. As can be demonstrated by the data, this genetic liability coincides with other widespread genetic traits, expressed in certain EEG patterns, as well as with lesional pathogenetic factors. The biological background of the genetic focal anomaly is currently unknown. The marked age dependence of the symptoms justifies the assumption of an hereditary impairment of brain maturation.
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PMID:The concept of hereditary impairment of brain maturation. 1123 Dec 24

L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria with a slowly progressive course regarding CNS involvement. We present a 13.5-year-old female patient who presented at the Emergency Department with a generalized status epilepticus, which promptly responded to intravenous phenytoin. CT and MRI demonstrated subcortical white matter alterations. The neurological examination revealed mild mental retardation, macrocephaly and ataxic gait with cerebellar signs. Repeated urinary organic acid analysis demonstrated increased excretion of 2-hydroxyglutaric acid which was of the L-configuration. The constellation of macrocephaly in a patient with mental retardation, cerebellar tract involvement and subcortical white matter signal alterations on MRI should alert the physician to the possibility of L-2-HGA. Although rare, epileptic seizures or even status epilepticus can be among the presenting symptoms in organic acidurias with a slow course, such as L-2-HGA.
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PMID:L-2-Hydroxyglutaric aciduria presenting as status epilepticus. 1137 7

Ring chromosome 20 mosaicism is associated with dysmorphic features, mental retardation, and intractable seizures, including recurrent episodes of nonconvulsive status epilepticus. The authors' findings in four children, all without dysmorphic features, indicate that mental deterioration and frequent subtle nocturnal frontal lobe seizures, associated with a characteristic EEG pattern, represent prominent additional clinical features not previously described in this syndrome. This emphasizes the importance of full-night video-EEG in children with frontal lobe seizures and cognitive deterioration.
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PMID:Ring chromosome 20 epilepsy syndrome in children: electroclinical features. 1191 29

Hemimegalencephaly is a rare cerebral malformation that usually presents with mental retardation, controlateral hemiparesis and intractable seizures. We report a case of hemimegalencephaly diagnosed in adulthood based on MRI findings. The electroencephalogram initially suggested partial status epilepticus. The diagnosis of this cerebral malformation has been made easier thanks to recent progress in cerebral imagery with MRI. We describe and discuss the relevant encephalographic aspects.
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PMID:[Hemimegalencephaly: a misleading EEG tracing]. 1238 29


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