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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Early infantile epileptic encephalopathy with suppression-burst, or Ohtahara syndrome (OS), and early myoclonic encephalopathy (EME) are epileptic encephalopathies with onset of frequent seizures in the neonatal and early infancy period and with a characteristic EEG pattern, namely, suppression-burst, in which higher-voltage bursts of slow waves mixed with multifocal spikes alternate with isoelectric suppression phase. Their nosologic independence is now widely accepted, although some controversy initially occurred because of their common characteristics such as age of onset, EEG features, seizure intractability, and poor prognosis. Major differences between the two syndromes include (1) tonic spasms in OS versus partial seizures and erratic myoclonias in EME, (2) continuous suppression-burst pattern in both waking and sleeping states in OS versus this EEG pattern almost limited to sleep in EME, and (3) static structural brain damage in OS versus genetic or metabolic disorders in EME. The most important differentiating point is their evolutional pattern with age, which may reflect their pathophysiologic difference. Ohtahara syndrome evolves to West syndrome and further to Lennox-Gastaut syndrome with age, but EME demonstrates no unique evolution; namely, it continues as such for a long time or changes into partial epilepsy or severe epilepsy with multiple independent spike foci.
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PMID:Epileptic encephalopathies in early infancy with suppression-burst. 1473 30

Lennox-Gastaut syndrome (LGS) is a childhood epileptic encephalopathy characterized by an electroclinical triad of generalized slow spike wave (SSW) activity in the EEG, multiple types of epileptic seizures, and slow mental development. It is usually subdivided into symptomatic and cryptogenic types, the latter accounting for at least one fourth of all patients. Symptomatic cases are due to diverse cerebral conditions, which are usually bilateral, diffuse, or multifocal, involving cerebral gray matter. Twenty percent of all patients with LGS have prior infantile spasms with hypsarrythmia. The characteristic interictal EEG pattern of LGS is 1.5 to 2.5 Hz SSW activity, which is bilaterally synchronous, dominant over the frontocentral regions, and usually symmetric. There are varying degrees of slowing of the background. Sleep discloses paroxysms of generalized fast (10 to 25 Hz) rhythmic activity.
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PMID:Lennox-Gastaut syndrome (childhood epileptic encephalopathy). 1473 32

Myoclonic attacks are not characteristic of a specific syndrome. In infancy and early childhood, they are often observed in the context of syndromes that are associated with other types of seizures and with cognitive impairment but no obvious brain lesion. Characterization of the associated seizures and age of expression allows inclusion of a number of cases in two main subgroups: severe myoclonic epilepsy (SME, or Dravet syndrome) and myoclonic-astatic epilepsy (MAE). Severe myoclonic epilepsy is an epileptic encephalopathy with invariably poor outcome in which myoclonic seizures, though frequently observed, may be absent altogether in some children. Prolonged and repeated febrile and afebrile convulsive seizures starting in infancy are the main feature and are probably causally related to cognitive decline. One third of children harbor mutation of the SCN1A gene, but the genetics of SME is probably more complex than expected with simple monogenic disorders. Treatment is usually disappointing. Myoclonic-astatic epilepsy is perhaps more a conceptual category of idiopathic myoclonic epilepsy than a discrete syndrome. Childhood-onset myoclonic-astatic attacks are the characteristic seizures associated in most with episodes of nonconvulsive status and generalized tonic-clonic seizures. Outcome is unpredictable. Either remission within a few years with normal cognition or long-lasting intractability with cognitive impairment is possible. Likewise, the effectiveness of antiepileptic drugs is variable. A number of cases of myoclonic epilepsies in infancy and early childhood, however, remain unclassified, and intermediate forms between the different syndromes exist. They must be distinguished from other syndromes with frequent brief attacks and repeated falls, especially the Lennox-Gastaut syndrome. This differentiation is often difficult and may require extensive neurophysiologic studies.
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PMID:Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy). 1473 34

Lennox-Gastaut syndrome is an epileptic encephalopathy characterized by multiple seizure types, mental retardation, and a slow spike-and-wave pattern on electroencephalography. Medical intractability is common. We identified a case series of six patients diagnosed with Lennox-Gastaut syndrome in which levetiracetam was initiated as add-on therapy for the management of seizures. At follow-up, four patients experienced 100% reduction of their myoclonic seizures; two patients had greater than 50% reduction of their atonic seizures, and four patients experienced 100% reduction in their generalized tonic-clonic seizures. Tonic seizures were not responsive to treatment. The most common side effect was irritability; the most positive change involved alertness. In this small sample, levetiracetam appeared effective in reducing seizures in Lennox-Gastaut syndrome. This preliminary study is limited by its retrospective design and small number of patients, but positive findings warrant a larger scale, multicenter study.
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PMID:Levetiracetam in the treatment of Lennox-Gastaut syndrome. 1508 3

The major catastrophic epileptic syndromes of childhood include infantile spasms, Lennox-Gastaut syndrome, and the progressive myoclonus epilepsies (PMEs). Although each of these syndromes manifests in an age-specific manner and is defined by distinct electroclinical features, they are all refractory to medical therapy and are invariably associated with psychomotor deficits, and in the most severe cases, either epileptic encephalopathy or progressive neurodegeneration. While much has been written about the clinical features and natural history of the catastrophic epilepsies, very little is known about the underlying pathophysiology. Progress in our understanding and treatment of these conditions has been hampered by the lack of suitable animal models in which putative mechanisms and novel targets for intervention could be rigorously studied. Nevertheless, recent clinical and basic investigations have identified certain mechanisms that may be relevant to their pathogenesis. In this review, three major hypotheses regarding the pathophysiology of infantile spasms are highlighted: the corticotropin-releasing hormone (CRH) hypothesis, the N-methyl-D-aspartate (NMDA) hypothesis, and the serotonin-kynurenine hypothesis. One or more of these mechanisms may be relevant in part to later-onset catastrophic epilepsies since infantile spasms can persist into later childhood and, like Lennox-Gastaut syndrome, well into adulthood. There is a profound need to develop more relevant animal models of the developmental encephalopathic epilepsies to truly develop better therapeutic strategies for these catastrophic disorders.
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PMID:Basic science behind the catastrophic epilepsies. 1528 5

Infantile spasms (IS), the most common of the early epileptic encephalopathies, afflicts thousands of children each year and results in significant disability. Also known as West syndrome, IS is characterized by intractable stereotyped seizures, poor developmental outcome and a characteristic electroencephalogram (EEG) pattern. IS often progresses into another epileptic encephalopathy known as Lennox-Gastaut syndrome, and continues with the patient being burdened by lifelong epilepsy and varying degrees of mental retardation. Little is known about the biological basis of IS. As the etiologies of IS are diverse, the multiple causes must converge into a final common pathway that results in this specific epilepsy phenotype. Finding a model or models to test this final pathway is necessary both to understand why the greatest susceptibility to seizure development occurs during infancy and early childhood, and what underlies the decreased cognitive potential associated with IS. Furthermore, appropriate models would permit better testing of potential therapies directed specifically at IS. This review will describe the clinical features and etiologies of IS; the ideal features that IS models should contain; and the IS models that exist currently. Finally, we will discuss the limitations of these models and the potential avenues for future research on IS.
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PMID:Developing an animal model for infantile spasms: pathogenesis, problems and progress. 1955 93

This study examines factors influencing the evolution of West syndrome to Lennox-Gastaut syndrome. The study population comprised 98 patients diagnosed with West syndrome and monitored for at least 3 years. During follow-up, West syndrome evolved to Lennox-Gastaut syndrome in 48 of the 98 patients. Etiology analysis indicated that West syndrome was cryptogenic in 36 patients (36.7%) and symptomatic in 62 (63.3%). West syndrome was managed with antiepileptic drugs in 31 patients, ketogenic diets in 33 patients, hormonal therapy with prednisolone in 45 patients and with adrenocorticotropic hormone in 15 patients, epileptic surgery in 3 patients, and either no treatment or only herbal medication in 4 patients. The risk of developing Lennox-Gastaut syndrome was significantly lower in patients who were placed on a ketogenic diet, given prednisolone or adrenocorticotropic hormone, or treated with a combination of these two therapies (bivariate logistic regression analysis, P < 0.05). There was no relationship between the development of Lennox-Gastaut syndrome and age at West syndrome onset or disease etiology. In conclusion, a ketogenic diet and hormonal therapy may play key roles in preventing encephalopathy in patients with West syndrome.
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PMID:Factors influencing the evolution of West syndrome to Lennox-Gastaut syndrome. 1958 58

The developing brain is particularly susceptible to seizures. Diffuse central nervous system pathology or injury in early infancy, when the brain is most vulnerable, may lead to catastrophic epilepsies such as Ohtahara's epileptic encephalopathy and early myoclonic epileptic encephalopathy. These epileptic encephalopathies are difficult to treat and have poor prognoses. As the brain undergoes programmed synaptogenesis, apoptosis, and myelination, the epilepsy phenotypes and electroencephalography (EEG) findings change, producing age-dependent epileptic encephalopathies. Specifically, as they grow older, 40% to 60% of infants with infantile spasms and a concomitant hypsarrhythmia on EEG will develop Lennox-Gastaut syndrome with tonic and atonic seizures, associated with a synchronous, generalized 1.5- to 2-Hz spike and slow wave discharges on EEG. In the context of age-dependent epileptic encephalopathies, as an epilepsy syndrome is evolving, it is often difficult to accurately diagnose the specific epilepsy syndrome in a young child who presents with seizures. It is the clinical evolution of the seizure types and the EEG that helps the clinician make an accurate diagnosis. As more is known about the underlying pathophysiology for the various epilepsy syndromes, not only the clinical picture and EEG but also a genetic blood test will be used to accurately diagnose a specific epilepsy syndrome. A case in point would be severe myoclonic epilepsy of infancy (classically known as Dravet syndrome) and severe myoclonic epilepsy of infancy-borderland/ borderline, which are associated with specific mutations in the sodium ion channel gene SCN1A.
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PMID:Clinical evaluation and diagnosis of severe epilepsy syndromes of early childhood. 1966 78

Lennox-Gastaut syndrome (LGS) is a rare but debilitating pediatric epileptic encephalopathy characterized by multiple intractable seizure types. Treatment of LGS is challenging because of the small number of antiepileptic drugs (AEDs) which are effective for this syndrome, as well as the need for polytherapy in the majority of patients. This review focuses on the treatment of LGS with rufinamide, a recently approved third-generation AED with reported efficacy as adjunctive therapy for LGS. All relevant papers identified through a PubMed search on the treatment of LGS with rufinamide were reviewed. To date, the literature suggests improvements in seizure frequency for pediatric patients with LGS on rufinamide. Rufinamide appears to be especially effective for atonic or drop attack seizures. Rufinamide also displays a favorable adverse event profile compared with the older anticonvulsants, as well as a minimal number of drug interactions, making it a promising option for the adjunctive treatment of seizures associated with LGS.
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PMID:Treating Lennox-Gastaut syndrome in epileptic pediatric patients with third-generation rufinamide. 2095 24

Lennox-Gastaut syndrome is an intractable epileptic encephalopathy, with most patients experiencing daily seizures despite therapy with multiple antiepileptic drugs. New treatments need to be tested to define their efficacy in this syndrome. Lacosamide is a new antiepileptic drug recently approved for the treatment of partial-onset seizures. We describe three patients with Lennox-Gastaut syndrome resistant to conventional antiepileptic drugs whose seizures were aggravated by lacosamide.
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PMID:Does lacosamide aggravate Lennox-Gastaut syndrome? Report on three consecutive cases. 2097 Mar 86


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