Jean Christophe CUVELLIER - Academia.edu (original) (raw)

Papers by Jean Christophe CUVELLIER

Seizure-european Journal of Epilepsy, May 1, 2012

Myoclonic epilepsy in infancy (MEI), formerly called benign myoclonic epilepsy in infancy, is a p... more Myoclonic epilepsy in infancy (MEI), formerly called benign myoclonic epilepsy in infancy, is a primary generalised epilepsy characterised by brief, generalised myoclonic seizures (MSs) occurring during the first 2 years of life in normal children. Ictal EEGs show brief bursts of generalised spikes and waves or polyspikes and waves. Despite a typically favourable outcome, epilepsies may follow MEI, and mental retardation is occasionally observed. 1 We have previously reported the electroclinical features and long-term follow-up of 34 patients with MEI. 1 Three patients later experienced another epilepsy syndrome, while 6 experienced a single seizure, mostly commonly a febrile seizure. In two patients, juvenile myoclonic epilepsy (JME) developed at the ages of 9 and 12 years. The latter developed cryptogenic partial epilepsy Seizure 21 (2012) 300-303

Journal of Child Neurology, 2017

The objective was to study the prevalence and characterization of pediatric migraine triggers and... more The objective was to study the prevalence and characterization of pediatric migraine triggers and to compare results to this retrospective study. A total of 101 pediatric patients with ICHD-II migraine with and/or without aura were instructed to prospectively complete a diary dealing with attacks triggers for a 3-month period. Each subject reported at least 1 trigger (range: 1-14) with a total number of 532 attacks and a median per subject of 3. Lack of sleep (51.4%), stress (44.6%), warm climate (41.9%), noise (32.4%), and excitation (29.7%) were the most frequently reported. The delay between trigger exposure and attack onset was between 0 and 3 hours in 67.6% of attacks. This prospective study confirmed the findings of the authors’ previous study, with the exception that number of triggers was smaller, probably due to recall bias. The 4 most frequent triggers (lack of sleep, stress, hot weather, and noise) were identical in both studies.

Cephalalgia, 2017

Background No study dedicated to postdrome symptoms of migraine attacks is available in children ... more Background No study dedicated to postdrome symptoms of migraine attacks is available in children and adolescents. Objective To study the resolution phase of the migraine attack in children and adolescents. Methods 100 children and adolescents with ICHD-3 beta migraine without and/or with typical aura were included. Each patient, and one of her/his parents, were interviewed by phone about the postdrome phrase of their last six months’ migraine attacks. They were specifically instructed to distinguish symptoms that had begun before and went on after migraine headache cessation (referred to as persistent symptoms), and symptoms whose onset was strictly after headache cessation (referred to as true postdromes). Results 91% of patients reported persistent symptoms, with a mean of 2.9 and a median of 2; asthenia, cognitive difficulties, pallor, cognitive slowing, anorexia, somnolence, and nausea were the most frequently reported. They lasted less than 12 h in 71% of patients. True postdro...

Journal of child neurology, Aug 1, 2016

The study assessed the 5-year follow-up outcome and possible prognostic factors of migraine subty... more The study assessed the 5-year follow-up outcome and possible prognostic factors of migraine subtypes with onset in childhood or adolescence. A total of 343 patients meeting the International Classification of Headache Disorders (ICHD)-II criteria for migraine without aura (MO), migraine with aura (MA), or both MO+MA (ie, 1.1, 1.2) were contacted by phone and underwent structured follow-up headache interviews. Of the original sample patients, 22.7% were headache-free at follow-up, 14.1% had a transformed headache diagnosis (tension-type headache: 8.2%, chronic daily headache: 5.8%), and 63.3% still had migraine fulfilling the criteria for ICHD-II 1.1. or 1.2, but those who were still migraineurs at follow-up were older at baseline (respectively 12.93, 9.99, and 11.02 years for MO, MA and MO+MA, P = .0005). The probability of having the same migraine subtype diagnosis at baseline and at 5-year follow-up was 55.2%, 95.1%, and 31.1% for ICHD-II 1.1, 1.2, and both 1.1 and 1.2, respectively.

Seizure, 2009

Approximately 30% of patients with epilepsy have refractory epilepsy, i.e. seizures persist despi... more Approximately 30% of patients with epilepsy have refractory epilepsy, i.e. seizures persist despite accurate diagnosis and carefully monitored treatment with antiepileptic (AEDs) drugs. 1,2 The ketogenic diet (KD) is a high-fat, adequate-protein and very low-carbohydrate diet that has been used for many years to treat intractable epilepsy in children. The KD has been shown to be effective in retrospective, prospective and randomized controlled studies. 3-6 In a randomized controlled trial, after 3 months of the KD, 38% of patients had >50% seizure reduction compared with 6% of the controls, while 7% of patients had >90% seizure reduction compared with none of the controls. 5 In Korean and American multicentric studies, more than 40-50% of patients had a >50% reduction in seizure frequency after 6 and 12 months. 6,7 More recently, the modified Atkins diet has been used to treat intractable epilepsy. 8-13 The modified Atkins diet induces ketosis without fluid, calorie or protein restriction, nor the requirement for fasting or food weighting. Daily carbohydrates are limited and high-fat intake encouraged. The modified Atkins diet was designed to be a less restrictive alternative than the KD. Early studies have suggested efficacy and safety in both children and adults. 8-13 The mechanisms by which the KD and modified Atkins diet exert their anti-seizure effects are not clear. Among the possible mechanisms of action, it has been hypothesized that various fatty acids, by influencing neuronal excitability, may constitute part of beneficial effects of KD on seizure control. 14-21 In a study of 9 children on KD, elevated blood polyunsaturated fatty acid (PUFA) was found. The rise in arachidonic acid (AA) was correlated with seizure control. 22 However, a decrease in serum AA and an increase of linoleic (LA) and eicosapentaenoic (EPA) acids were found in another study including 25 patients. 23 In the latter, no correlation between serum fatty acids levels and seizure control was found. We report our experience using both classic KD and modified Atkins diet in children with refractory epilepsy. Our aim was to compare the relative efficacy of the diets and to evaluate serum long chain fatty acids profiles.

Human Molecular Genetics, 2014

Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basi... more Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurrent copy number variants at 1q21, 15q11.

The Journal of Headache and Pain, 2011

The prevalence and characterization of migraine triggers have not been rigorously studied in chil... more The prevalence and characterization of migraine triggers have not been rigorously studied in children and adolescents. Using a questionnaire, we retrospectively studied the prevalence of 15 predefined trigger factors in a clinic-based population. In 102 children and adolescents fulfilling the Second Edition of The International Headache Classification criteria for paediatric migraine, at least one migraine trigger was reported by the patient and/or was the parents' interpretation in 100% of patients. The mean number of migraine triggers reported per subject was 7. Mean time elapsed between exposure to a trigger factor and attack onset was comprised between 0 and 3 h in 88 patients (86%). The most common individual trigger was stress (75.5% of patients), followed by lack of sleep (69.6%), warm climate (68.6%) and video games (64.7%). Stress was also the most frequently reported migraine trigger always associated with attacks (24.5%). In conclusion, trigger factors were frequently reported by children and adolescents with migraine and stress was the most frequent.

EMC - Pediatría, 2007

ABSTRACT Las encefalitis agudas infantiles son infecciones no supuradas del parénquima cerebral q... more ABSTRACT Las encefalitis agudas infantiles son infecciones no supuradas del parénquima cerebral que suelen deberse a una infección viral. Se distinguen dos tipos según su patogenia: las encefalitis primarias y las postinfecciosas. Las encefalitis primarias se deben a la replicación del virus en el seno del parénquima cerebral. Una de las principales formas es la encefalitis herpética, que provoca una síntesis intratecal de anticuerpos antiherpéticos de forma diferida y duradera, lo que permite un diagnóstico retrospectivo. En la fase aguda, la reacción en cadena de la polimerasa (PCR) constituye el método diagnóstico de elección de la encefalitis herpética. El tratamiento de esta enfermedad se basa en aciclovir por vía intravenosa. Su eficacia es mayor cuanto antes se instaure. Las encefalitis postinfecciosas o encefalitis agudas diseminadas son las más frecuentes, y se deben a una disregulación inmunitaria desencadenada por el virus, que se dirige contra algunos componentes del parénquima cerebral, sin contaminación directa de las células cerebrales. Las manifestaciones clínicas suelen comenzar de forma súbita, varios días o semanas después de una infección o de una vacunación, y consisten en una alteración del nivel de conciencia, crisis convulsivas y signos de déficit neurológicos en un niño afebril o con poca fiebre. Estos síntomas no son específicos de las encefalitis y pueden encontrarse en otras infecciones del sistema nervioso central, como las meningitis bacterianas y los abscesos cerebrales, que requieren un tratamiento específico urgente. El tratamiento curativo de la encefalitis postinfecciosa es esencialmente sintomático, pero la vacunación contra algunas infecciones virales, como el sarampión, la rubéola y la parotiditis, constituye la mejor prevención.

Seizure, 2012

Pathologie Biologie, 2001

L'alcool est beaucoup plus lentement éliminé chez le foetus que chez la mère (< 50 %). L'éthanol ... more L'alcool est beaucoup plus lentement éliminé chez le foetus que chez la mère (< 50 %). L'éthanol et son dérivé l'acétaldéhyde présentent un effet dose constant sur le développement du svstème nerveux central. Vu la susceptibilité individuelle à l'effet tératogène de l'alcool in utero, le phénotype clinique est variable. Cette tératogénicité est constante durant tout le développement du système nerveux central. Le diagnostic de syndrome d'alcoolisme foetal (SAF) associe trois critères : retard de croissance pré-et post-natal, dysfonctionnement du système nerveux central, anomalies crâniofaciales caractéristiques. Les malformations cérébrales sont extrêmement variables, pouvant concerner les différentes étapes de développement du système nerveux central. Les anomalies neurochimiques intéressent principalement le système monoaminergique. Le retard mental est la conséquence la mieux connue du SAF (34 à 85 %). Il n'est pas constant. La dysmorphie faciale résulte d'un ensemble d'anomalies dont aucune n'est pathognomonique mais dont le groupement est évocateur. L'instabilité psychomotrice est la manifestation la plus fréquente sur le plan comportemental. Les différents composantes du phénotype sont détaillées.  2001 Éditions scientifiques et médicales Elsevier SAS syndrome d'alcoolisme foetal Summary-Fetal alcohol syndrome: abnormal development of the central nervous system and clinical phenotype.

Movement Disorders, 2006

Benign hereditary chorea is a rare autosomal dominant disorder presenting with a childhood-onset ... more Benign hereditary chorea is a rare autosomal dominant disorder presenting with a childhood-onset and slowly progressive chorea. The objective of this study was to describe the clinical and genetic features of 3 patients who developed childhood-onset chorea. Three affected patients from three generations of a family with benign hereditary chorea associated with a multisystemic disorder of the basal ganglia, thyroid, lungs, salivary glands, bowels, and teeth. The TITF-1 gene was screened by microsatellite analysis, gene sequencing, and fluorescence in situ hybridization. Genetic analysis revealed a novel 0.9-Mb deletion on chromosome 14, which includes the TITF-1 and PAX9 genes. We have identified a novel deletion responsible for a new syndrome of benign hereditary chorea, including symptoms of brain-thyroid-lung syndrome associated with bowels, salivary glands, and teeth disorders. Associated signs, sometimes of slight expression, remain of high interest for the clinical and genetic diagnosis of benign hereditary chorea.

European Journal of Medical Genetics, 2008

We here report a boy presenting with developmental delay, growth retardation, facial dysmorphisms... more We here report a boy presenting with developmental delay, growth retardation, facial dysmorphisms, vermis hypoplasia, micropolygyria and corpus callosum agenesis. Conventional and high resolution cytogenetic analyses were normal but high resolution oligonucleotide array-CGH, performed at the age of 4 years, allowed the characterisation of a de novo 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication. Numerous 1qter deletions have already been described associated with brain malformations. Among 1q44 deleted genes, AKT3 is the strongest candidate gene for vermis hypoplasia and corpus callosum agenesis.

Archives de Pédiatrie, 1996

Archives de Pédiatrie, 2005

Archives de Pédiatrie, 1999

Archives de Pédiatrie, 2009

Objectives. To assess in a pediatric emergency care unit (PECU): 1. The frequency of syncope and ... more Objectives. To assess in a pediatric emergency care unit (PECU): 1. The frequency of syncope and pre-syncope, 2. The incidence of diagnoses, 3. The value of investigations and cardiology and neurology consultations. Methods. The data of PECU patients aged 2 years to 15 years and 3 months were prospectively collected over 1 year. Standard electrocardiogram and serum glucose were compulsory investigations. Schellong's orthostatic test was performed whenever possible. Results. One hundred and fity-nine children (mean age, 11 AE 4 years) were included, accounting for 0.8% of the PECU's visits: 48% had syncope, 52% had pre-syncope. The most common cause was neurally mediated syncope-98 patients (62%), with vasovagal syncope for 80 patients-followed by neurological causes: 29 patients (18%). Neither cardiac arrhythmia nor obstructive cardiomyopathy was diagnosed. There were discrepancies between cardiologists' and pediatricians' ECG interpretations in 9% of cases. Diagnoses differed between cardiologists and pediatricians in 54% of 41 consultations. Diagnoses differed between neurologists and pediatricians in 54% of 42 consultations. No investigation except Schellong's orthostatic test led to modification of a previous diagnosis. Conclusion. This study emphasizes that the routine workup of pediatric syncope should focus on the patient's history and physical examination. Diagnostic testing should be minimal: ECG and

Archives de Pédiatrie, 1995

Archives de Pédiatrie, 1997