Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome) is an apparently autosomal recessive disorder manifested by infantile spasms, severe hypotonia, and early arrest of psychomotor development. Subcutaneous edema in the limbs, typical facial features, and blindness with optic atrophy are also present. Neuropathologic and radiographic studies show progressive brain atrophy, which is accentuated infratentorially. We recorded 85 EEGs from 10 patients between the ages of 3 weeks and 12.7 years; follow-up ranged from 7 months to 12.1 years. The infantile spasms were preceded by other neurological symptoms in all patients. Seven of nine patients showed focal or generalized epileptiform activity or abnormal EEG background. All patients developed hypsarrhythmia, first recorded between 3 and 11 months of age, that was resistant to therapy with ACTH and antiepileptic drugs. After the hypsarrhythmia disappeared, five patients showed slow spike-wave activity generally seen in the Lennox-Gastaut syndrome, and three patients showed background EEG abnormality with generalized or diffuse paroxysmal activity. There were no specific EEG features that could help in the diagnosis of PEHO. The PEHO syndrome should be borne in mind in the diagnostic work-up of patients with infantile spasms, so that potentially harmful treatment can be avoided, and the parents can be counseled about the inheritability of the disorder.
 ...
PMID:Epilepsy and the electroencephalogram in progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (the PEHO syndrome). 833 May 84

This study was designed to correlate the prevalence of epilepsy with the severity and type of encephalopathy of 1,023 institutionalized patients and tentatively classify each according to the Proposals of the Commission on Classification and Terminology of the International League Against Epilepsy. Of this sample, 326 individuals were diagnosed with epilepsy. Sex distribution and mean age in the epilepsy and no epilepsy groups were similar, but degree of handicap was higher for those with epilepsy. Of these individuals 32.5% had a partial form. Of the 204 patients with generalized epilepsy (62.5%), 64 had a form with electroclinical characteristics of the idiopathic type; 57, a syndromic form (53 cases with a Lennox-Gastaut syndrome); and 83, a nonsyndromic form. Degree of handicap and frequency of seizures were lower in subjects with partial epilepsy and with those having electroclinical characteristics of the idiopathic type.
 ...
PMID:Epilepsy in institutionalized patients with encephalopathy: clinical aspects and nosological considerations. 835 19

We investigated the long-term prognosis of Lennox-Gastaut syndrome (LGS) in 72 patients followed up for > 10 years. Long-term seizure and intellectual outcomes were poor, as previously reported. The diagnosis of LGS was first made in the age range from 2 to 15 years with peak occurrence at 5 years. Progressive IQ score deterioration with age was apparent. At the last examination, 33% of patients with cryptogenic and 55% with symptomatic LGS had lost the characteristics of LGS, and their seizure disorders were classifiable as symptomatic generalized epilepsies, severe epilepsy with multiple independent spike foci, or localization-related epilepsies. Disabling drop attacks appeared in 46% of patients and tended to occur at older than 10 years. Gait deterioration was recognized in 12 patients and seemed to be due largely to progression of the epileptic encephalopathy. The gait disturbances, as well as increased frequency of violent drop attacks, were disabling in daily life and resulted in some patients being wheelchair bound.
 ...
PMID:Long-term prognosis of Lennox-Gastaut syndrome. 868 12

The development of an international classification for epilepsies and epileptic syndromes has led to substantial progress in the understanding and treatment of patients with epilepsy. Epilepsies and epileptic syndromes are partitioned first by seizure type and then by etiology. This manuscript describes recent advances in six major pediatric epilepsy syndromes. The first three discussed (benign childhood epilepsy with centrotemporal spikes, juvenile myoclonic epilepsy, and childhood absence epilepsy) are the three most common epilepsy syndromes, and each has been the focus of significant research. Patients with benign childhood epilepsy with centrotemporal spikes (benign rolandic epilepsy) may not require anticonvulsant therapy, and their seizures always remit by midadolescence. Juvenile myoclonic epilepsy was the first major epilepsy syndrome for which a gene locus was found. The underlying neuronal pathways and cellular mechanisms of the generalized absence seizures of childhood absence epilepsy are well delineated. The last three syndromes discussed (West syndrome, Lennox-Gastaut syndrome, and acquired epileptic aphasia) are devastating catastrophic epileptic syndromes. The focus of research in West syndrome (infantile spasms) has been to develop better therapeutic interventions (both medical and surgical) and an improved understanding of its pathogenesis. New effective medications are available for patients with Lennox-Gastaut syndrome (childhood epileptic encephalopathy), but one of them (felbamate) has been associated with previously unrecognized serious side effects. Lastly, acquired epileptic aphasia is an example of a poorly understood epilepsy syndrome. A multicenter group has been organized to reexamine this syndrome and produce a better understanding of its pathogenesis and treatment.
 ...
PMID:Pediatric epilepsy syndromes. 877 13

A prospective study of 32 children with epileptic encephalopathies 12 years or younger revealed a high incidence of focal cortical metabolic defects on 18-fluorodeoxyglucose positron emission tomography (PET) not suspected from clinical, EEG, or magnetic resonance imaging findings. PET scans were normal in all five children with typical de novo Lennox-Gastaut syndrome but showed cortical metabolic abnormalities in three out of four with atypical de novo Lennox-Gastaut syndrome, five out of six with Lennox-Gastaut syndrome following infantile spasms, six out of eight with severe myoclonic epilepsy in infancy, one out of two with epilepsy with myoclonic-astatic seizures, and four out of six with an unclassified epileptic encephalopathy. This suggests that some children with epileptic encephalopathies previously thought to have primary generalised seizures or seizures due to multifocal pathology may have unifocal cortical origin for their seizures. Such an origin may be amenable to surgery.
 ...
PMID:Focal abnormalities detected by 18FDG PET in epileptic encephalopathies. 919 78

The authors describe the electroclinical aspects and long-term evolution of five (in one male and four female patients) cases of early infantile epileptic encephalopathy in the neonatal period, the most common seizures were tonic spasms (either generalized or lateralized) that, very often, occurred in series. All newborns showed the typical suppression-burst pattern. The neurological status (initially normal) progressively deteriorated in the subsequent months, and all infants suffered from severe mental insufficiency and daily intractable seizures. Four out of the five children developed hypsarrythmia and one, Lennox-Gastaut syndrome. The authors discuss the main problems related to the suppression-burst pattern and the long-term prognosis of this abnormality.
 ...
PMID:Early infantile epileptic encephalopathy: a long-term follow-up study. 890 68

Seizure-inducing effects can be observed in the treatment of epileptic patients with antiepileptic drugs (AED). This may be a paradoxical reaction (for example the increase of complex focal seizures due to carbamazepine, vigabatrin or phenytoin treatment) or a result of AED-induced encephalopathy (commonly induced by valproate in patients with complex focal seizures). A seizure increase during intoxication with AED is a rare phenomenon, thus, it is not directly related to this condition. An incorrect choice of drugs in the treatment of an epileptic syndrome or seizure type may provoke seizures (as for example the provocation of absences due to carbamazepine or phenytoin). The possible seizure-inducing effect of AEDs has to be differentiated from seizure occurrence due to the natural course of epilepsy. This may be especially difficult in patients suffering from West syndrome or Lennox-Gastaut syndrome, in whom seizure frequency may vary even without medication. However, especially in these patients, drug-induced worsening of seizure manifestation is often observed. In general, a seizure-inducing effect of antiepileptic drugs has to be considered when a seizure increase is observed soon after the initiation of therapy, when a stepwise increase of the dosage is followed by a further increase of seizures, a decrease of seizures is seen with tapering of the dosage and a renewed increase of seizures can be observed after this therapy has been reestablished. Finally, one knows that the clinical condition of encephalopathy due to valproate or carbamazepine is accompanied by seizure increase. In spite of these clinical aspects, the underlying mechanisms of seizure increase mostly remain unclear. From animal experiments it is obvious that especially carbamazepine and phenytoin may provoke generalized seizures as absences or myoclonic seizures. A seizure increase during vigabatrin therapy has been attributed to the increase of the cerebral amount of gamma-amino butyric acid, which is known to possibly exhibit inhibitory or excitatory neuronal effects. The occurrence of tonic seizures in patients with Lennox-Gastaut syndrome has been attributed to the sedative effect of the drugs; however, this conclusion is controversial. From a clinical point of view, one should consider young age of the patient, mental retardation, antiepileptic polytherapy, high frequency of seizures or prominent epileptic activity in the electroencephalogram previous to medication as risk factors for a possible seizure-inducing effect of antiepileptic drugs.
 ...
PMID:Seizure-inducing effects of antiepileptic drugs: a review. 901 23

Malignant epileptic encephalopathies in children comprise a series of age-related generalized epilepsy syndromes: neonatal myoclonic encephalopathy and early epileptic encephalopathy in the neonatal period, migrating focal seizures in early infancy, infantile spasms and West syndrome, severe myoclonic epilepsy and non-progressive myoclonic encephalopathies in infancy, and Lennox-Gastaut syndrome, myoclonic astatic epilepsy, continuous spike waves in slow sleep and Rasmussen disease in childhood. Clinical and EEG characteristics are the major diagnostic clues. Aetiology remains unknown but for the majority of the cases, a combination of different factors, particularly lesions, genetic predisposition and age-related features seem to be variously combined to produce an intractable condition.
 ...
PMID:Malignant epileptic encephalopathies in children. 906 80

The inclusion criteria for afebrile cluster seizures in infancy are defined as follows: (1) frequency of afebrile seizures at least 2 episodes within 72 hours; (2) seizure onset between 2 months and 3 years of age; (3) excluding febrile convulsion, central nervous system infections, status epilepticus, well-known epileptic syndromes in infancy (e.g. early myoclonic encephalopathy, early infantile epileptic encephalopathy, benign myoclonic epilepsy, infantile spasms. Lennox-Gastaut syndrome), electrolyte imbalance, watery diarrhea, head injury and intoxication. From 1986 to 1996, retrospectively and prospectively 22 patients were collected who fulfilled the above criteria. Based on whether or not a strong family history was present and a history of mild diarrhea was associated with seizure onset, they were divided into three groups: Group I, benign infantile familial convulsions (4 patients); Group II, cluster seizures with mild diarrhea in infancy (5 patients); Group III, cluster seizures without diarrhea in infancy (13 patients). Before seizure onset and during follow-up, all of the patients had normal development. The seizure pattern in all was generalized, most tonic type with duration of seizure less than five minutes in the majority. Recurrence rate was 100% in Group I and no recurrence in Group II. In 16 patients who were seizure-free over 12 months, the duration of persistence varied from 1 day to 8 months, and was shortest in Group II (range, 1 to 3 days). It was concluded that the vast majority of afebrile cluster seizures in infancy are benign in nature. Whether anticonvulsant therapy is justified must be individualized.
 ...
PMID:Clinical analysis of 22 infants with afebrile cluster seizures. 923 May 37

Lennox-Gastaut syndrome (LGS) is one of the intractable epilepsies of childhood that is associated with an epileptic encephalopathy. Although LGS has been accepted as a distinct epilepsy syndrome for the last 30 years, understanding of its pathogenesis is still incomplete. Because this heterogenous entity has many diverse etiologies, some with specific therapy, a complete evaluation is necessary. The natural history is well defined; most children with LGS will ultimately be mentally retarded, will continue to have seizures, and as adults will be dependent for their daily care. Therefore, their only hope is new therapies and advances in our understanding of the pathogenesis of LGS. Several new treatment options have emerged. For the first time in the last 20 years, we have several medications with documented efficacy. In addition, there are effective nonpharmacologic treatments. These treatments offer the potential for improved seizure control, which we hope will have impact and lessen the subsequent epileptic encephalopathy. Children with LGS require multidisciplinary assessment and treatment along with vigorous intervention aimed at minimizing their seizures to maximize their potential. Pediatric neurologists should be familiar with the treatments with proven efficacy, including new antiepileptic drugs, and should develop a rational plan of treatment for each child with LGS.
 ...
PMID:Lennox-Gastaut syndrome. 939 Jun 95


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>