1/9. Early-onset absence epilepsy and paroxysmal dyskinesia.PURPOSE: To report on the association of childhood absence epilepsy and paroxysmal dyskinesia (PD). methods: We describe six patients aged 6 to 27 years (mean, 14 years) who were identified in five centers participating in a European study group. patients had been followed up clinically from the first symptoms and had been studied with video-EEG recordings of absence seizures, videotaping of dyskinetic attacks, and brain magnetic resonance imaging (MRI). RESULTS: Four patients were sporadic, and two were siblings. Age at onset of absence seizures was unusually early (range, 3 months to 3 years 6 months; mean, 16 months), with four children having their first episodes within the first year of life, and the remaining two by age 3 years 6 months. Resistance to multiple appropriate drugs was seen in five children, in four of whom absences improved remarkably when ethosuximide was added. Absences remitted between age 8 and 13 years in the three patients in whom follow-up was long enough. Different types of PD were seen including paroxysmal kinesigenic dyskinesia (one patient), paroxysmal exercise-induced dystonia (three patients), and paroxysmal tonic upgaze (two siblings). In most patients, PD appeared at a later age than, co-occurred with, and outlasted absence seizures. Only in the two siblings with tonic upgaze, dyskinetic attacks had an earlier onset. PD improved with increasing age and did not usually produce severe disability. CONCLUSIONS: There is a widening spectrum of epilepsy and PD syndromes, within which epilepsy has the characteristics of the common idiopathic syndromes, with some atypical features.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/9. Overlap cases of eyelid myoclonia with absences and juvenile myoclonic epilepsy.Eyelid myoclonia with absences (EMA) and juvenile myoclonic epilepsy (JME) are two separate epileptic syndromes included in the new classification of epilepsies and epileptic syndromes by ILAE in 2001. Both are idiopathic generalized epilepsies with their clinical onset in the first two decades. EMA is characterized by eyelid myoclonia associated with absences and photosensitivity. Self-induced seizures are frequently seen in EMA. It can be associated with mildly mental retardation and resistance to treatment. JME includes three types of generalized seizures: typical absences, myoclonic jerks and generalized tonic-clonic seizures. The myoclonic jerks occur almost exclusively on awakening, involve preferently the upper extremities, may rarely affect the lower extremities or the entire body. More severe attacks may be accompanied by a fall. The myoclonic jerks occur rarely in EMA. They are usually mild and are freqently restricted to the upper extremities. Generalized tonic-clonic seizures, photosensitivity and generalized polyspike-wave discharges provoked by eye closure are features of both epileptic syndromes. In this study, we describe four female patients with eyelid myoclonia associated with absences, myoclonic jerks causing falling down and rare generalized tonic-clonic seizures. All patients had good school performance and total seizure control under sodium valproate treatment. Their EEGs show generalized polyspike-wave discharges with a frequency of 3.5-6Hz always appearing a few seconds after eye closure and photoparoxysmal response. These patients show the characterictics of both epileptic syndromes. It is clinically important to make a syndromic diagnosis for an optimum advise on treatment, lifestyle restrictions and prognosis. In this study, we have gathered evidence that EMA and JME are dynamic syndromes that tend to evolve into one another.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
3/9. Meningio-angiomatosis.A case is described of a boy five years old who suffered from left-sided muscular weakness since the first months of life and from absences since the second year of life. He died of valproate-induced hepatic insufficiency. autopsy of the brain revealed meningio-angiomatosis, a rare but rather benign disorder usually characterized by narrow meningothelial proliferations abutting upon cortical plaques and exhibiting proliferations of small vessels with perivascular cuffs of fibroblast-like cells. The peculiarities were that the case lacked any leptomeningeal calcification - in line with the patient's age being the lowest so far reported for pathologically verified meningio-angiomatosis - and also exhibited intracortical clusters of mesenchymal cells that did not form vessels ("free fibroblasts"). Immunohistochemically perivascular cells were negative for S100, GFAP, desmin and factor-8-related antigen and were embedded in interstitial collagen of types III and VI as well as procollagen I, while "free fibroblasts" were surrounded by deposits of basement membrane collagen type iv. The results are consistent with a meningothelial origin of perivascular cells and "free fibroblasts".- - - - - - - - - - ranking = 4keywords = life (Clic here for more details about this article) |
4/9. epilepsy with typical absence seizures with onset during the first year of life.Absence epilepsy with multiple daily seizures and onset at the age of 6 and 1/2 months in a healthy female child with normal development is described. EEG-video recording revealed typical absence seizures (vacant staring and interruption of motor activity) and complex absences (as above, plus raising of the eyeballs, slight beatings of the eyebrows, and forward propulsion of head and shoulders). The absences were accompanied by bilateral symmetrical 3-Hz spike-wave discharges preceded, and at times followed, by bilateral frontoparietal theta activity coinciding with onset and termination of the absence seizures. The seizures regressed with nitrazepam therapy. At age 3-years, the child is seizure-free and shows normal neurologic development.- - - - - - - - - - ranking = 4keywords = life (Clic here for more details about this article) |
5/9. Acute prolonged confusion in later life as an ictal state.Six patients ranging in age from 42 to 69 with no prior history of seizure disorder presented an acute prolonged or intermittent confusional state, with or without psychotic symptoms, as an ictal manifestation. The EEGs demonstrated protracted generalized spike and wave discharges, but full diagnostic evaluation disclosed no evident cause for the seizures. All promptly responded to small amounts of intravenous diazepam and subsequent oral phenytoin and phenobarbital. Three of the six patients had focal spike or sharp wave discharges on EEGs recorded subsequently, suggesting that the episodes may reflect secondary generalized seizures in some cases. These cases do not fit in the classic category of petit mal status and appear to be a distinct entity.- - - - - - - - - - ranking = 4keywords = life (Clic here for more details about this article) |
6/9. adult onset absence status: a report of six cases.The six cases which we report show the range of confusional states which may be seen in absence status. They also illustrate the importance of electroencephalography in the diagnosis of acute confusional states. In all cases the absence status began in adult life and in one of these it was the first manifestation of epilepsy. Two patients became schizophrenic concurrently with the onset of absence status. The preventive treatment of absence status remains problematic. In particular, clonazepam and valproic acid were ineffective in our series. The attack of absence status may respond to intravenous diazepam or oral clonazepam. In our experience, if the patient is able to take oral medication during absence status, oral clonazepam stops the status within one to two hours. This avoids the potential complications of intravenous diazepam.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
7/9. Eyelid myoclonia with typical absences: an epilepsy syndrome.Five unrelated patients are described with the clinical and electrical features of eyelid myoclonia with absences (EMA). In this syndrome brief, typical absences occur with rapid eyelid myoclonia associated with retropulsive movements of the eyeballs and occasionally of the head. The seizures are of shorter duration than in childhood absence epilepsy, and are accompanied by less profound impairment of consciousness. The electroencephalogram demonstrates high amplitude discharges consisting of spikes, multiple spikes and slow waves at a fluctuating frequency of 3-5 Hz and following eye closure, which disappear in darkness. Photosensitivity is also seen. Onset is in early childhood and EMA appears to persist into adult life. Treatment is sodium valproate in combination with either ethosuximide or a benzodiazepine. On the basis of the clinical features, EEG findings, and the response to treatment and prognosis, it is suggested that EMA be classified as a specific epilepsy syndrome.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
8/9. valproic acid treatment of epilepsy in autistic twins.Case histories of autistic twins with absence seizures are presented. The boys had autistic features prior to the onset of seizures during their second year of life. By age 3 years, the twins were significantly delayed in the areas of socialization, communications and impulse control. Typical autistic features were pronounced, including perseverative, nonpurposeful and self-stimulatory behaviors; lack of symbolic play; poor eye contact; echolalic and noncommunicative speech; and unresponsiveness to disciplinary efforts. The absence seizures, although first observed by the parents early in the twins' second year, were not diagnosed until age 3 years 1 month. The seizures consisted of 50-60 staring spells per day. Both boys responded to valproic acid treatment with control of their seizures and with a dramatically accelerated rate of acquisition of both language and social skills. A possible causal relationship between autism and absence seizures in these children is explored.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
9/9. exercise induced steroid dependent dystonia, ataxia, and alternating hemiplegia associated with epilepsy.This paper describes a 20 year old woman with a new combination of neurological impairments in which the motor phenomena were responsive to corticosteroid treatment. She had lifelong moderate learning impairment. A variable ataxia with cerebellar characteristics was present from early life, with early severe exacerbation when seizures were uncontrolled. Atypical absence and simple and complex partial seizures were present from the first year of life and EEG abnormalities were maximal in the right parietal region, concordant with a mild non-specific abnormality of the white matter in the region of the trigone. Episodes of alternating hemiplegia occurred from 11 years, unassociated with seizures. exercise induced dystonia occurred from the age of 5. After 10-20 minutes walking, her right foot would turn in and the right leg would stiffen, followed by the left and by falling and inability to get up for several minutes. prednisolone improved her ataxia and was associated with cessation of both seizures and exercise induced dystonia. This adds a new syndrome to the corticosteroid responsive motor disorders associated with epilepsy.- - - - - - - - - - ranking = 3keywords = life (Clic here for more details about this article) |