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Biomedical subjects

C Dravet

Publications and source records attributed to C Dravet.

107 records · Page 6Linked to original sources
PubMedDate not supplied

Early myoclonic epileptic encephalopathy (E.M.E.E.).

The authors describe the electroclinical aspects and evolution of nine cases of myoclonic epileptic encephalopathy which began between two days and ten weeks of life. At onset it is associated with: myoclonic jerks, partial fits and periodic paroxysmal EEG abnormalities. Repeated spasms coexisting with partial fits and 'suppression-bursts' (both appearing later) complete the electroclinical picture. The neurological status (initially normal) progressively deteriorates leading within a few months to a decerebrate posture with opisthotonos. In spite of thorough neuroradiological, biochemical, cytological, metabolic, and ultrastructural investigations, the etiology remained unknown. However, the electroclinical and evolutive patterns are similar to those of some metabolic diseases (Polyodystrophy, Non-Ketotic Hyperglycinemia, etc.). All these observations display a homogeneous electroclinical pattern for which the authors propose the name of Early Myoclonic Epileptic Encephalopathy. This type deserves to be classified as a particular electroclinical entity among the epileptic encephalopathies of the first year of life; since its course is regularly downhill in all cases there may be a familial recurrence due to the possibility of a metabolic etiology.

Age Factors↗
PubMedDate not supplied

A case of early infantile epileptic encephalopathy (EIEE) with anatomical cerebral asymmetry and myoclonus.

The authors report a case of early encephalopathy with myoclonus, tonic spasms and a suppression-burst pattern on electroencephalography (EEG) associated with unilateral cerebral hypertrophy following hemiatrophy. This patient showed frequent myoclonus in relation to a suppression-burst pattern resembling that in early myoclonic encephalopathy (EME). Moreover, the case also showed tonic spasms, from the age of 13 days, in series, as seen in Ohtahara syndrome. On the other hand, there was a previously undescribed peculiar CT scan finding, which showed hypertrophy of the right cerebral hemisphere at birth, following hemiatrophy. Neuropathological examination revealed cerebral atrophy associated with heterotopia and an ependymal hyperplasia in the right hemisphere, suggesting hemimegalencephaly. This case should be classified as Ohtahara syndrome accompanied by myoclonus, because of the spasms in series interrupting the suppression-burst pattern, and the etiological factor of brain malformation. The nosological aspects of this epileptic encephalopathy are discussed.

Atrophy↗
PubMedDate not supplied

[Lafora disease (author's transl)].

On the basis of 21 personal observations as well as those (82) from the litterature, it is concluded that the progressive myoclonic epilepsy with Lafora bodies (P.M.E.) constitutes a disease on its own. The clinical features are those described in the litterature observations and completed by some characteristics; the high frequency of visual symptoms (47 p. 100 personal cases); the relatively less bad evolution of epilepsy, perhaps in relation with use of modern drugs; the relatively moderate intensity of myoclonus which becomes complete only at the end of the evolution. From E.E.G. point of view, we can distinguish three periods: an initial one at the very onset of disease, who will show the same features as observated in primary generalized epilepsy, i.e. a well preserved background activity with superimposed generalized fast spikes and waves facilitated by the I.L.S. Then follows a period of evolutive E.E.G. (1-2 years after the onset of the disease) characterized by progressive slowing of the posterior background, enlargement of posterior slow activity and appearance of diffuse theta and delta activity. Simultaneously spikes and waves are taking less typical and bisynchronous aspect. Finally after 3 to 5 years from the onset there is a diffusely slow E.E.G. with superimposed fast multiple spikes. The E.E.G. findings in litterature usually refer only to this last period (stationary or terminal period). Occipital independent multiple spikes are frequently observed and could correlate with the visual symptoms observated in the Lafora disease. Some elements of differential diagnosis are given with respect to primary generalized epilepsy at the onset of the disease and later on with respect to dyssynergia cerebellaris myoclonica and to the progressive myoclonic epilepsy without Lafora bodies.

Adolescent↗
PubMedDate not supplied

[Affective symptoms during attacks of epilepsy in children (author's transl)].

The authors present the results of an electroclinical study in 20 children (16 girls and 4 boys) having epileptic attacks with affective symptoms of a terrifying type. These were often interpreted (6/20) initially as nocturnal terrors or acute anxiety attacks. In 8 cases (40%) there was a previous family history of epilepsy. The age of onset was between 2 and 10 years. The attacks occurred several times during the 24 hours, both day and night, but were controlled rapidly and permanently (4 children over 15 years of age have had no further attacks 4 years after discontinuing treatment), and neurological and intellectual development was normal. This benign progression is correlated with a homogeneous critical and intercritical electroclinical picture enabling an early favorable prognosis to be made. The classification of this type of epilepsy, and its analogy with epilepsy with rolandic spikes is discussed.

Adolescent↗
PubMedDate not supplied

Partial epilepsies in infancy: a study of 40 cases.

Forty patients with partial epilepsy that began before they were aged 3 years were recorded at the Centre Saint-Paul between 1981 and 1986 with a follow-up ranging from 1 year 9 months to 20 years. We analyzed the following data: age at onset, clinical features of seizures at onset and during the follow-up period, ictal and interictal EEG features, etiologic circumstances, evolution of the epilepsy, and psychomotor development. The age of onset was mostly between 2 months and 2 years (more than two thirds of cases). Most had partial symptomatic epilepsy. In nine cases, epilepsy was preceded by febrile convulsions. Seizures at onset were of the following type (in order of decreasing occurrence): unilateral seizures, complex partial seizures, elementary partial seizures, and other seizures, often difficult to classify. A few patients with infantile spasms associated with focal or multifocal EEG abnormalities, differing from West's syndrome, were included in this study. We discuss the problem arising from the classification of infantile seizures and epilepsies.

Child, Preschool↗
PubMedDate not supplied

Reflex seizures are frequent in patients with Down syndrome and epilepsy.

In a retrospective study of 30 Down syndrome (DS) patients with epilepsy, we found 6 cases (20%) with reflex seizures. One patient had benign myoclonic epilepsy of infancy with clinical photosensitivity. The other 5 cases had all startle-induced epileptic seizures and a form of symptomatic epilepsy. Three patients had a Lenox-Gastaut syndrome, one had generalized symptomatic epilepsy, and one had partial symptomatic epilepsy (PSE). Reflex epilepsy was also used as a classification category in the PSE case, as most or all seizures were stimulus-related in this patient. Seizures precipitated by stimuli were stereotyped in 4 patients, but 2 patients responded to stimuli with different types of seizures. The actual occurrence of reflex seizures in DS patients with epilepsy is probably underestimated. These cases seem to confirm previous reports showing deficiencies in cortical inhibition in the brain of DS patients.

Brain↗
PubMedDate not supplied

Compulsive somatosensory self-stimulation inducing epileptic seizures.

Three children who had been diagnosed as having infantile spasms with major psychomotor retardation were referred for the persistence of series of spasm-like seizures, which were resistant to antiepileptic drug treatment, beyond infancy. Serial seizures were elicited by a compulsive self-stimulating behavior that was documented by long-term video-polygraphy. These behaviors implicated proprioceptive inputs: tapping on the chin in one case, flexion and external rotation of the leg with dislocation of the femur in one case, a particular posturing of the body followed by rhythmic shaking of the head in the last case. This clinical picture seems to constitute a particular type of outcome for infantile spasms and is particularly resistant to therapy.

Cerebral Cortex↗
PubMedDate not supplied

Effect of anticysticercal treatment on the prognosis of epilepsy in neurocysticercosis: a pilot trial.

Epilepsy secondary to active or inactive neurocysticercosis (NCC) is a major public health problem in Latin American countries. In an open-label pilot trial, we evaluated and followed (mean = 13 months) 16 patients with epilepsy resulting from active NCC which was treated with anticisticercal (ACC) drugs. These patients were aged 12-68 years with confirmed active NCC and seizures not controlled by adequate antiepileptic drug (AED) therapy. Patients were treated with albendazole or praziquantel (ALB and PZQ, ACC drugs) and AED monotherapy. The number of NCC cysts was markedly reduced by ACC therapy. Thirteen patients remained seizure-free and 2 had only one seizure during follow-up. Our data suggest a positive effect of ACC treatment on the prognosis of epilepsy caused by active NCC, but a prospective, double-blind, controlled study with long-term follow-up must be performed to determine whether ACC therapy improves long-term seizure control.

Adolescent↗
PubMedDate not supplied

[The evolution of epilepsy in the most common genetic forms with mental retardation (Down's syndrome and the fragile X syndrome)].

Some chromosomal abnormality syndromes carry a higher risk of seizures than that found in the general population. Down's syndrome is considered to be the first and the most frequent chromosomal abnormality causing mental retardation. In spite of numerous reports and epidemiological surveys, the outcome of epileptic syndromes in patients with Down's syndrome (DS) is still largely unknown. We retrospectively studied 34 DS patients with epilepsy (14M; 20F). Epileptic syndromes were classified as: infantile spasms, 10 cases, i.e. 31%; Lennox-Gastaut syndrome, 5 cases, 15.5%; symptomatic generalized epilepsy, 1 case; idiopathic generalized epilepsy, 6 cases, 17.6%; partial symptomatic epilepsy, 10 cases, i.e. 31%. In 2 patients the epilepsy was unclassifiable. In all the patients the following evolutive particularities were noted: a) the infantile spasms to have a relatively mild prognosis, as 8/10 patients remained seizure-free, 3 of whom without treatment; b) no patient experienced febrile convulsions prior to the onset of epilepsy; c) Lennox-Gastaut syndrome had a relatively late onset (mean age 10 years, range 8-11.5); d) 7 patients (20.6%) developed reflex seizure. The fragile X syndrome is considered to be the second most frequent chromosomal abnormality causing mental retardation. The prevalence of epilepsy varies from 9.1% to 45% in the different series. In order to evaluate the prevalence rate of epilepsy and the previously hypothesized association with a particular electroclinical picture, we retrospectively studied 90 fragile X syndrome patients (80M, 10F) aged 4 to 25 years (mean age 13y6m).(ABSTRACT TRUNCATED AT 250 WORDS)

Child↗
PubMedDate not supplied

Determination of clonazepam ("Rivotril" or "Ro 5-4023") in plasma by gas chromatography using an internal standard.

A method has been developed for gas-chromatographic determination of clonazepam ("Rivotril" or "Ro 5-4023") in plasma, using methyl-clonazepam ("Ro 4082") as an internal standard. Following extraction of the benzodiazepines and hydrolysis, the benzophenones are analyzed by gas-chromatography, using a glass column filled with 3% OV 225 on Gas Chrom Q and a 63Ni electron-capture detector. The technique has good selectivity. The limit of sensitivity is less than 1 ng/ml of plasma. Using this method the plasma kinetics of clonazepam may be studied in man and the correlations between plasma levels and therapeutic activity investigated. It is also available for toxicological analysis, as well as pharmacovigilance purpose. The same internal standard and a similar method can also be used for the determination of flunitrazpem ("Rohypnol" or "Ro 5-4200") and its major metabolite (N-desmethyl-flunitrazepam) in plasma.

Administration, Oral↗