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J Aicardi

Publications and source records attributed to J Aicardi.

At least 19 recordsLinked to original sources
PubMed2001

Dreamy state: a case report from the selected writings of John Hughlings Jackson. Brain 1874.

This masterly account of a remarkable type of epileptic attacks with "dreamy state" was published in Brain, volume XI, pp. 179-207 in 1888 [1]. The patient was himself a physician and a highly articulate person endowed with an unusual capacity for introspection in addition to an interest in poetry and travelling 1. Jackson disagreed with some of the terms used by his doctor-patient; he preferred the word "reminiscence" to that of "recollection" and put between inverted commas that of "aura", indicating that he did not use it for any form of the "dreamy state" although the term remains easy to understand 2. Edited by James Taylor, Gordon Holmes and F.M.R. Walshe, Nijmegen: Arts and Boeve, 1996.

Epilepsy↗
PubMed2000

Sturge-Weber syndrome: indications and results of surgery in 20 patients.

OBJECTIVE: To discuss the indications and timing for resective surgery in patients with Sturge-Weber syndrome (SWS) and medication-resistant epilepsy. BACKGROUND: SWS that causes epilepsy severe enough to merit surgery is rare. Because of the variable natural history of the disease, it is difficult to establish clear-cut indications for surgery and prospective studies are not feasible. Attitudes of clinicians and surgeons remain variable. METHODS: The authors assessed the presurgical epilepsy profile, criteria for surgery, monitoring techniques, and the postoperative outcome of epilepsy in all patients with SWS consecutively admitted between 1972 and 1990 to two referral centers (Paris and Montreal) and underwent surgery for intractable seizures. RESULTS: All 20 patients had a minimal postoperative follow-up of 4 years and all but one are still followed by one of the authors. One patient had a callosotomy, five underwent hemispherectomy, and 14 had cortical resection. Despite variability in the age at onset of seizures (range: 2 months to 12 years), age at operation (range: 8 months to 34 years) and surgical methods, almost all patients benefited from surgery. Visually guided complete resection of the pial angioma and underlying cortex, whenever possible, seemed sufficient; results were no better with intraoperative corticography. In children with previous hemiparesis, hemispherectomy proved particularly effective: all five became seizure free. None of the patients showed any aggravation of cognitive impairment following surgery; none of those who were operated on early presented with severe mental retardation, and 13 of 20 became seizure free. CONCLUSION: Although the natural history of SWS is imperfectly known, increasing duration of seizures and of postictal deficits, increase in atrophy or of calcified lesions or both, are indicative of its progressive nature. Despite the expected heterogeneity that renders formal comparison of the various approaches difficult, the current study provides new evidence to support early surgery in patients with SWS and drug-resistant epilepsy. The authors' results suggest that lesionectomy is a good approach, provided that the pial angioma is unilateral and the resection can be complete.

Child↗
PubMed2000

Developmental amnesia associated with early hypoxic-ischaemic injury.

We recently reported on three young patients with severe impairments of episodic memory resulting from brain injury sustained early in life. These findings have led us to hypothesize that such impairments might be a previously unrecognized consequence of perinatal hypoxic-ischaemic injury. Neuropsychological and quantitative magnetic resonance investigations were carried out on five young patients, all of whom had suffered hypoxic-ischaemic episodes at or shortly after birth. All five patients showed severe impairments of episodic memory (memory for events), with relative preservation of semantic memory (memory for facts). However, none had any of the major neurological deficits that are typically associated with hypoxic-ischaemic injury, and all attended mainstream schools. Quantitative magnetic resonance investigations revealed severe bilateral hippocampal atrophy in all cases. As a group, the patients also showed bilateral reductions in grey matter in the regions of the putamen and the ventral part of the thalamus. On the basis of their clinical histories and the pattern of magnetic resonance findings, we attribute the patients' pathology and associated memory impairments primarily to hypoxic-ischaemic episodes sustained very early in life. We suggest that the degree of hypoxia-ischaemia was sufficient to produce selective damage to particularly vulnerable regions of the brain, notably the hippocampi, but was not sufficient to result in the more severe neurological and cognitive deficits that can follow hypoxic-ischaemic injury. The impairments in episodic memory may be difficult to recognize, particularly in early childhood, but this developmental amnesia can have debilitating consequences, both at home and at school, and may preclude independent life in adulthood.

Adolescent↗
PubMed2000

Atypical semiology of rolandic epilepsy in some related syndromes.

Atypical seizures, especially generalized or focal atonic attacks and atypical absences may occur in association with the classical seizures of rolandic epilepsy. They are often associated with unusual EEG features, especially a marked activation of paroxysms during sleep that may amount to continuous spike-wave complexes of slow sleep. These electroclinical features are often accompanied by cognitive and/or behavioral disturbances and may belong to several syndromes (atypical benign partial epilepsy, syndrome of continuous spike-waves during sleep, Landau-Kleffner syndrome and status of rolandic epilepsy) whose relationship with typical rolandic epilepsy and among themselves remains to be clarified.

Brain↗
PubMed1999

Epilepsy in children with shunted hydrocephalus.

OBJECT: The incidence of epilepsy among children with hydrocephalus and its relation to shunts and their complications, raised intracranial pressure (ICP), and developmental outcome are explored in a retrospective study. METHODS: The authors studied a series of 802 children with hydrocephalus due to varying causes, who were treated by ventriculoperitoneal shunt placement between 1980 and 1990, with a mean follow-up period of 8 years. Patients who had tumoral hydrocephalus and those whose files lacked significant data were excluded. Data extracted from medical records, including history of the hydrocephalus and history of seizures, if any, were analyzed. Thirty-two percent of the children had epilepsy, the onset of which frequently occurred at approximately the same time that the diagnosis of hydrocephalus was made. The majority of the affected children had severe uncontrolled epilepsy. The incidence of epilepsy was significantly affected by the original cause of the hydrocephalus. The presence of radiological abnormalities was also found to be a significant predictor of epilepsy. Similarly, shunt complications predisposed to epilepsy. Episodes of raised ICP related to hydrocephalus or in association with shunt malfunction may also predispose to epileptic seizures. Furthermore, the presence of a shunt by itself seems able to promote an epileptogenic focus. Finally, epilepsy appears to be an important predictor of poor intellectual outcome in hydrocephalic children with shunts. CONCLUSIONS: A prospective study is needed to identify clearly and confirm avoidable factors predisposing to seizures in these children so that we can strive to reduce the incidence of these seizures and, subsequently, improve these children's quality of life.

Birth Injuries↗
PubMed1999

Surgery of epilepsy associated with focal lesions in childhood.

OBJECT: Surgery in children with epilepsy is a new, evolving field. The important practical issues have been to define strategies for choosing the most suitable candidates and the type and optimal timing of epilepsy surgery. This study was undertaken to elucidate these points. METHODS: To identify the factors that correlated with outcome, the authors analyzed a series of 200 children (aged 1-15 years (mean 8.7 years) who underwent surgery between 1981 and 1996 at the Hôpital Necker-Enfants Malades. In 171 cases (85.5%) the epilepsy was medically refractory and was associated with focal cortical lesions. Surgery consisted of resection of the lesion without specifically attempting to identify and remove the "epileptogenic area. "In the group of children whose seizures were medically refractory, the mean follow-up period was 5.8 years. According to Engel's classification, 71.3% of these children became seizure free (Class 1a,) whereas 82% were in Class I. A multivariate statistical analysis revealed that among all the factors studied, the success of surgery in a patient in whom there was a good clinical/electroencephalogram/imaging correlation depended on the patient's having undergone a minimally traumatic operation, a complete resection of the lesion, and a short preoperative seizure duration. After the surgical control of epilepsy, behavior disorders were more improved (31% of all patients) than cognitive function (25%). The patient age at onset, duration and frequency of seizures, intractability of the disease to therapy, and seizure characteristics were correlated with cognitive, behavioral, and academic performance pre- and postoperatively. Multivariate statistical analysis revealed that cognitive dysfunction correlated highly with the duration of epilepsy prior to surgery, whereas behavioral disorders correlated more with seizure frequency. CONCLUSIONS: These data must be taken into account when selecting patients for surgical treatment and when deciding the timing of surgery. Early surgical intervention allows for optimum brain development.

Adolescent↗
PubMed1999

Hemifacial spasm or subcortical epilepsy?

A child with Goldenhar's syndrome presented at about one week of age with stereotyped, repetitive paroxysmal episodes of hemifacial contraction, suggestive of partial seizures or hemifacial spasm. Later in life he also developed independent, permanent abnormal eye and chin movements identical in rhythm to those seen in myorhythmias, suggesting involvement of the dentato-olivary pathway. MRI demonstrated a hamartomatous lesion at the level of the pontomedullary junction. We speculate that the nature of the lesion could be responsible for the partial seizures mimicking hemifacial spasm and that because of its location, this same lesion could also be implicated in the genesis of myorhythmias. The presence of a hamartomatous lesion in a region affected by the abnormal development of the first and second branchial arches is not fortuitous.

Adolescent↗
PubMed1999

Evolution of epilepsy surgery in childhood: the neurologist's point of view.

Surgical treatment of epilepsy in children has been slow to develop because of uncertainties regarding the prognosis of early epilepsies, difficulties in the diagnosis of causal lesions, the frequency of severe, extensive brain damage, and technical problems. Surgery for epilepsy in infants and children raises problems quite different from those in adults. This applies especially to severe infantile epilepsies for which the aim of treatment may be more to facilitate neurodevelopment than to control the seizures. In addition, intractability cannot be defined in the same terms at different ages, the time scale being usually much shorter in young children and the operations required often extensive. The results of surgery in childhood are comparable to those in adults. However, indications for surgery and assessment of its results in catastrophic epilepsies of infants requires different rules to those that apply to adults and older children.

Adolescent↗
PubMed1998

Aicardi-Goutières syndrome: an update and results of interferon-alpha studies.

Twenty-seven patients with familial encephalopathy with calcification of the basal ganglia and chronic cerebrospinal fluid (CSF) lymphocytosis (Aicardi-Goutières syndrome) are reviewed. In 19 children, the onset was within the first 4 months of life. Most patients had normal head circumference at birth, but 21 developed microcephaly between 3 and 12 months. Neuroimaging showed severe and progressive brain atrophy in all patients. The extent and intensity of the calcification was variable even in the same sibship. CSF lymphocytosis persisted beyond 12 months of age in 7 children. High levels of interferon-alpha were found in serum and CSF in 14 patients. The higher CSF levels suggest intrathecal synthesis. Tubuloreticular inclusions related to the presence of interferon were found in 4 additional children. The 19 patients still alive (6 older than 10 years) are profoundly disabled. However, the syndrome may present with individual variations in severity, rapidity of evolution, and imaging features. Neuropathological examination in 2 patients failed to detect significant inflammatory lesions and showed only foci of necrosis and wide-spread demyelination. This study supports an autosomal recessive inheritance for this syndrome. The high level of interferon-alpha is not explained but may play a role in the pathogenesis of the disorder.

Atrophy↗
PubMed1998

New form of autosomal-recessive axonal hereditary sensory motor neuropathy.

Two siblings, a male and a female, had severe axonal neuropathy and sideroblastic anemia. Despite a distinct clinical picture with areflexia, ataxia, hypotonia, optic atrophy, and progressive sensory neural hearing loss, no definite diagnosis could be reached and the older sibling died at 6 years of age of respiratory failure. It is proposed that the two affected siblings have a new form of autosomal-recessive axonal hereditary sensory motor neuropathy.

Anemia, Sideroblastic↗
PubMed1998

The etiology of developmental delay.

Developmental delay includes mental retardation (IQ less than 70) and borderline intellectual functioning (IQ 71 to 84). The overall frequency is between 1% and 2% of the child population with most cases in the mild range (IQ 50 to 70). Severe mental retardation is mostly due to genetic or acquired biological causes. Mild retardation is more commonly of acquired causes, and in borderline intellectual functioning, sociocultural factors play a role in addition to biological factors. The main prenatal causes include chromosomal and nonchromosomal genetic conditions, metabolic disorders, and adverse events during gestation, whereas environmental factors (eg, alcohol) more commonly cause mild retardation.

Child↗
PubMed1998

[The role of new antiepileptic drugs in childhood epilepsies].

INTRODUCTION: All over the last years an important number of new drugs to treat epilepsy have become available. Initially they were applied as an add-on therapy to conventional agents but their indications in monotherapy are already becoming defined. OBJECTIVE: Giving an updated view of the actual situation of these antiepileptic drugs (AED). DEVELOPMENT: We may refer mainly to those whose clinical applications are more clearly defined by the moment, namely, lamotrigine, vigabatrine, felbamate, gabapentin and topiramate. First we may review their modes of action, in most cases better known than those of conventional agents. Then we may refer to their side-effects which are not completely known, Finally we may refer to their specific indications in some types of seizures and epileptic syndromes. CONCLUSIONS: Their efficacy may have to be evaluated further in a large number of comparative trials with conventional drugs. Their indications both in monotherapy and in polytherapy are to be fully defined and their toxicity profile is far from being completely known. Therefore, a conservative policy seems still justified, the more so as the cost of these agents is extremely high as compared to most conventional drugs.

Anticonvulsants↗
PubMed1997

Bilateral tonic-clonic epileptic seizures in non-benign familial neonatal convulsions.

We report an electroclinical pattern considered characteristic of benign familial neonatal convulsions (BFNC) in two neonates without BFNC. Both neonates were products of uncomplicated pregnancies, labor, and deliveries. The cause of the seizures was not established. There was no family history of seizures or epilepsy. Seizures started on the second and third days after birth. Ten seizures were captured by continuous video-EEG telemetry. The electroclinical events began with generalized tonic posturing coinciding with the appearance of diffuse attenuation of the EEG activity. After several seconds, bilateral clonic movements accompanied by bilateral repetitive sharp waves or spikes occurred in the EEG. One patient had normal development; the other became autistic. We conclude that the electroclinical pattern occurring in BFNC can occur in other types of neonatal seizures.

Autistic Disorder↗
PubMed1996

Vigabatrin as initial therapy for infantile spasms: a European retrospective survey. Sabril IS Investigator and Peer Review Groups.

PURPOSE: The efficacy and tolerability of vigabatrin (VGB) as an add-on therapy in the treatment of infantile spasm (IS) prompted physicians to explore its use as the first drug in this seizure type. METHODS: Our retrospective study included 250 infants diagnosed with IS; the data obtained were subjected to peer-group review. Of this infant population, 192 infants were considered to have classic IS and had received VGB as their first treatment for the spasms. There was a slight preponderance of boys (57%) in this population. Mean age of IS onset was 5.8 months; 60% had typical hypsarrhythmia. RESULTS: Initial suppression of spasms was obtained in 68% of infants with a median time to response of 4 days at an average VGB dose of 99 mg/kg/day. The best response was seen in those infants with tuberous sclerosis (96% response) and in those younger than 3 months at onset of spasms (90% response). Of these infants, 43 (22%) of 192 subsequently had other types of seizures, and a recurrence of infantile spasms occurred in 28 (21%) of 131 responders. At the end of this study, 96 of 192 infants who could be evaluated were seizure free with VGB monotherapy. Treatment appeared to be well tolerated, with only 33 (13%) infants with adverse events, of which the most common were somnolence (15 patients) and hyperkinesia (eight patients). In only two cases did adverse events require VGB withdrawal. CONCLUSION: This study supports the opinion that VGB may be considered an initial treatment for IS regardless of cause.

Age of Onset↗