Publications by authors named "Frédéric Villega"

18 Publications

  • Page 1 of 1

Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.

Eur J Paediatr Neurol 2020 Sep 28;28:214-220. Epub 2020 Jun 28.

Unité de neurologie de l'enfant et de l'adolescent. Centre Hospitalo-Universitaire de Bordeaux, Hôpital Pellegrin Enfants, Place Amélie-Raba-Léon, 33 076, Bordeaux cedex, France.

The molecular diagnosis of early-onset epileptic encephalopathy (EOEE), an expanding field in child neurology, is becoming increasingly possible thanks to the widespread availability of next-generation sequencing and whole-exome sequencing. In the past 15 years, mutations in STXBP1, KCNQ2, SCN2A, SCN8A and numerous other genes have been reported, giving a more accurate insight for these rare diseases. Among these genes, germline mutations in Phosphatidyl Inositol Glycan A (PIGA) gene were first reported in 2012. Located on Xp22.2, PIGA is involved in the synthesis of GPI (glycosylphosphatidylinositol) which acts as a membrane anchor for different proteins: enzymes, adhesion molecules, regulation of the complement way, and co-receptor in transduction signal. Children suffering from this condition exhibit developmental delay with early-onset epilepsy, severe dysmorphic signs, multi-visceral anomalies and early death in the most severe forms. Here, we report five cases of germline PIGA mutations, with two missense mutations that have not been reported to date. We provide a new insight into the electroclinical phenotype. At the onset, epileptic spasms and focal-onset seizures with upper limbs and ocular involvements were present. Epilepsy proved pharmacoresistant in 4 out of 5 cases. Interictal EEG may be normal at the onset of epilepsy, but abnormalities in electroencephalographic studies were eventually present in all cases. Different types of seizures may be present simultaneously, and epileptic phenotypes evolve with aging.
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http://dx.doi.org/10.1016/j.ejpn.2020.06.002DOI Listing
September 2020

Neonatal Herpes Simplex Virus-1 Recurrence with Central Nervous System Disease in Twins after Completion of a Six-Month Course of Suppressive Therapy: Case Report.

Neuropediatrics 2020 06 30;51(3):221-224. Epub 2019 Dec 30.

Neurology Unit, Department of Paediatrics, CHU of Toulouse Purpan, Toulouse, France.

Seventeen-day-old twins were hospitalized for neonatal herpes simplex virus 1 (HSV-1) with central nervous system disease and internal capsule and thalamic lesions on magnetic resonance imaging (MRI). They were treated with the usual intravenous (IV) treatment and oral therapy for 6 months. The clinical course was good in both children with negative HSV polymerase chain reaction on completion of IV therapy. The neurological condition recurred in one child with new radiological lesions at 7 months of age, 2 weeks after discontinuation of oral treatment. Cerebral lesions highlighted on the MRI scan are specific to the neonatal period and impact long-term prognosis. The likely genetic predisposition in this case is interesting and requires further investigation. In addition, this case raises questions about the duration of oral acyclovir suppressive therapy.
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http://dx.doi.org/10.1055/s-0039-3402011DOI Listing
June 2020

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.

Epilepsia 2019 05 26;60(5):845-856. Epub 2019 Apr 26.

Pediatric Neurology Department, Timone Children Hospital, Reference Center for Rare Epilepsies, APHM, Marseille, France.

Objective: To describe the mode of onset of SCN8A-related severe epilepsy in order to facilitate early recognition, and eventually early treatment with sodium channel blockers.

Methods: We reviewed the phenotype of patients carrying a mutation in the SCN8A gene, among a multicentric cohort of 638 patients prospectively followed by several pediatric neurologists. We focused on the way clinicians made the diagnosis of epileptic encephalopathy, the very first symptoms, electroencephalography (EEG) findings, and seizure types. We made genotypic/phenotypic correlation based on epilepsy-associated missense variant localization over the protein.

Results: We found 19 patients carrying a de novo mutation of SCN8A, representing 3% of our cohort, with 9 mutations being novel. Age at onset of epilepsy was 1 day to 16 months. We found two modes of onset: 12 patients had slowly emerging onset with rare and/or subtle seizures and normal interictal EEG (group 1). The first event was either acute generalized tonic-clonic seizure (GTCS; Group 1a, n = 6) or episodes of myoclonic jerks that were often mistaken for sleep-related movements or other movement disorders (Group 1b, n = 6). Seven patients had a sudden onset of frequent tonic seizures or epileptic spasms with abnormal interictal EEG leading to rapid diagnosis of epileptic encephalopathy. Sodium channel blockers were effective or nonaggravating in most cases.

Significance: SCN8A is the third most prevalent early onset epileptic encephalopathy gene and is associated with two modes of onset of epilepsy.
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http://dx.doi.org/10.1111/epi.14727DOI Listing
May 2019

[Vomiting in the newborn and in the child].

Rev Prat 2018 Mar;68(3):e103-e108

Unité de gastroentérologie et nutrition pédiatriques.

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March 2018

Initial clinical presentation of young children with N-methyl-d-aspartate receptor encephalitis.

Eur J Paediatr Neurol 2018 May 28;22(3):404-411. Epub 2017 Dec 28.

Centre Français de Référence des Syndromes Neurologiques Paranéoplasiques, Hospices Civils de Lyon, Hôpital Neurologique, F-69677 Bron, France; Université Claude Bernard Lyon 1, CNRS UMR-5310, INSERM U-1217, Institut NeuroMyoGène, F-69003 Lyon, France. Electronic address:

Autoimmune encephalitis with anti-N-methyl-d-aspartate receptor autoantibodies (NMDA-R-Abs) is a recently described disease affecting adult and pediatric patients. Symptoms of the disease are now perfectly described in the adult population but the clinical presentation is less known in young children. The aim of the present study was to describe the clinical presentation and the specificities of symptoms presented by young children with NMDA-R-Abs encephalitis to improve diagnosis of this disease, and to compare these to a series of previously published female adult patients. Fifty cases of children younger than twelve years of age diagnosed with NMDA-R-Abs encephalitis between January 1, 2007 and December 31, 2016 (27 females and 23 males) were retrospectively studied. The first neurological symptoms observed in young children with NMDA-R-Abs encephalitis were characterized by seizure (72%), especially focal seizure (42%), within a median of 15 days before other encephalitis symptoms; other patients mostly had behavioral disorders (26%). The seizures were frequently difficult to diagnose because of the transient unilateral dystonic or tonic posturing presentation or sudden unilateral pain in the absence of clonic movements. A post-ictal motor deficit was also frequently observed. This clinical presentation is different from that observed in adult females with NMDA-R-Abs encephalitis who initially present mainly psychiatric disorders (67%) or cognitive impairment (19%), and less frequently seizures (14%). The diagnosis of NMDA-R-Abs encephalitis should be systematically considered in young children of both sexes who present neurological symptoms suggesting recent seizures (focal or generalized) without obvious other etiology.
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http://dx.doi.org/10.1016/j.ejpn.2017.12.014DOI Listing
May 2018

Vascular impairment as a pathological mechanism underlying long-lasting cognitive dysfunction after pediatric traumatic brain injury.

Neurochem Int 2017 Dec 1;111:93-102. Epub 2017 Apr 1.

CNRS UMR 5287, INCIA, University of Bordeaux, France; Department of Basic Sciences, Loma Linda University School of Medicine, Loma Linda, CA, USA. Electronic address:

Traumatic brain injury (TBI) is the leading cause of death and disability in children. Indeed, the acute mechanical injury often evolves to a chronic brain disorder with long-term cognitive, emotional and social dysfunction even in the case of mild TBI. Contrary to the commonly held idea that children show better recovery from injuries than adults, pediatric TBI patients actually have worse outcome than adults for the same injury severity. Acute trauma to the young brain likely interferes with the fine-tuned developmental processes and may give rise to long-lasting consequences on brain's function. This review will focus on cerebrovascular dysfunction as an important early event that may lead to long-term phenotypic changes in the brain after pediatric TBI. These, in turn may be associated with accelerated brain aging and cognitive dysfunction. Finally, since no effective treatments are currently available, understanding the unique pathophysiological mechanisms of pediatric TBI is crucial for the development of new therapeutic options.
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http://dx.doi.org/10.1016/j.neuint.2017.03.022DOI Listing
December 2017

Circulating bacterial lipopolysaccharide-induced inflammation reduces flow in brain-irrigating arteries independently from cerebrovascular prostaglandin production.

Neuroscience 2017 03 23;346:160-172. Epub 2017 Jan 23.

CNRS, Résonance Magnétique des Systèmes Biologiques, UMR 5536, Bordeaux, France; Univ. Bordeaux, RMSB, UMR 5536, Bordeaux, France. Electronic address:

Brain dysfunction is a frequent complication of the systemic inflammatory response to bacterial infection or sepsis. In the present work, the effects of intravenous bacterial lipopolysaccharide (LPS) administration on cerebral arterial blood flow were assessed with time-of-flight (TOF)-based magnetic resonance angiography (MRA) in mice. Cerebral expression of the transcription factors nuclear factor-kappaB (NF-κB) and c-Fos and that of enzymes synthesizing vasoactive mediators, such as prostaglandins and nitric oxide, known to be increased under inflammatory conditions, were studied in the same animals. Time-resolved TOF MRA revealed no differences in blood flow in the internal carotids upstream of the circle of Willis, but indicated lower flow in its lateral parts as well as in the middle and anterior cerebral arteries after intravenous LPS injection as compared to saline administration. Although LPS did not increase c-Fos expression in ventral forebrain structures of these animals, it did induce NF-κB in meningeal blood vessels. LPS also increased cerebral expression of cyclooxygenase-2 and prostaglandin E synthase mRNAs, but de novo expression occurred in veins rather than in arteries. In conclusion, our work indicates that LPS-induced systemic inflammation does not necessarily affect filling of the circle of the Willis from the periphery, but that circulating LPS alters outflow from the circle of Willis to the middle and anterior cerebral arteries. These modifications in arterial flow were not related to increased cerebral synthesis of prostaglandins, but may instead be the consequence of the action of circulating prostaglandins and other vasoactive mediators on brain-irrigating arteries during systemic inflammation.
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http://dx.doi.org/10.1016/j.neuroscience.2017.01.018DOI Listing
March 2017

Case Report of a Severe Recurrent Tongue Self-Injury in an Infant With Dystonia.

Pediatrics 2016 11 6;138(5). Epub 2016 Oct 6.

Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France;

Dystonia is characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive movements, postures, or both that are typically patterned, twisting, and sometimes tremulous. It is often initiated or worsened by voluntary action and associated with overflow muscle activation. In this article we report a case of severe oromandibular dystonia, which is a specific form of dystonia characterized by involuntary, action-induced tonic or clonic spasms of the masticatory, lingual, and pharyngeal musculature. Episodes of repeated tongue biting in a 17-month-old girl caused her to stay in the PICU for 4 weeks. These episodes were the consequence of dystonia induced by a perinatal stroke. We highlight the specific dental management that enabled us to treat the child without extractions. Facing this type of complex illness, we insist on the importance of interdisciplinary work with the goal of avoiding outdated techniques. The use of botulinum toxin seemed relevant.
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http://dx.doi.org/10.1542/peds.2016-0738DOI Listing
November 2016

ADHD in childhood epilepsy: Clinical determinants of severity and of the response to methylphenidate.

Epilepsia 2016 07 29;57(7):1069-77. Epub 2016 May 29.

Lyon's Neuroscience Research Center, INSERM U1028/CNRS UMR 5292, Lyon, France.

Objective: Attention-deficit/hyperactivity disorder (ADHD) is commonly observed in children with epilepsy. However, factors associated with the development of ADHD and which might help to guide its therapeutic management, remain an issue of debate.

Methods: We conducted a multicenter prospective observational study that included children, aged 6-16 years, with both epilepsy and ADHD according to Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) criteria. After inclusion, patients entered a 12-16 week follow-up period during which they were either treated with methylphenidate or they did not receive specific ADHD treatment. ADHD was evaluated with the ADHD Rating Scale-IV.

Results: One hundred sixty-seven patients were included, of which 91 were seizure-free during the preinclusion baseline period. At inclusion, the ADHD Rating Scale-IV total score was 30.4 ± (standard deviation) 9.2, the inattentive subscore was 17.3 ± 4.4, and the hyperactive subscore was 13.2 ± 6.6. We did not detect any difference of ADHD Rating Scale-IV scores across patients' age or gender, age at epilepsy onset, epilepsy syndrome, seizure frequency, or number of ongoing antiepileptic drugs. Methylphenidate was initiated in 61 patients, including 55 in whom a follow-up evaluation was available. At the last follow-up, 41 patients (75%) treated with methylphenidate and 39 (42%) of those who did not received ADHD therapy demonstrated ≥25% decrease of ADHD Rating Scale-IV total score (p < 0.001). Response to methylphenidate was greater in girls but was not influenced by any epilepsy-related variables.

Significance: We did not detect any epilepsy-related factor associated with the severity of ADHD. Twenty-five percent of patients did not respond to methylphenidate. A better understanding of the pathologic process that underlies ADHD development in childhood epilepsy might be required to improve therapeutic strategies.
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http://dx.doi.org/10.1111/epi.13420DOI Listing
July 2016

Perinatal arterial ischemic stroke related to carotid artery occlusion.

Eur J Paediatr Neurol 2016 Jul 16;20(4):639-48. Epub 2016 Mar 16.

French Centre for Pediatric Stroke, University Hospital Centre of Saint-Etienne, 42055 Saint-Etienne Cedex 2, France.

Background: The aetiology of perinatal arterial ischemic stroke remains speculative. It is however widely accepted that the aetiology is multifactorial, involving various maternal, placental, foetal and neonatal risk factors. A resulting thromboembolic process is hypothesized and the placenta identified as the most plausible source. An arteriopathy, as observed in a significant proportion of childhood ischemic stroke, is thought to be rare.

Methods: We report here five cases of perinatal stroke that differ from the vast majority by documented carotid occlusion, and add eleven other similar cases from the literature.

Results: In the majority, an intraluminal thrombus of placental origin is the most probable hypothesis, while in the remaining ones, one can reasonably presume a direct vessel wall injury related to a traumatic delivery, yet generally unproven by imaging.

Conclusion: We hypothesize that most of these cases share similar pathophysiology with the more common perinatal arterial ischemic stroke but differ by a persistent identified thrombus in the carotid artery at the time of first imaging, leading to a more severe and extended ischemic damage responsible for an adverse neurological outcome.
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http://dx.doi.org/10.1016/j.ejpn.2016.03.003DOI Listing
July 2016

Treatment and outcome of children and adolescents with N-methyl-D-aspartate receptor encephalitis.

J Neurol 2015 Aug 19;262(8):1859-66. Epub 2015 May 19.

French Reference Center of Paraneoplastic Neurological Syndromes, Hospices Civils de Lyon, Hôpital Neurologique, 69677, Bron, France,

The objective of this study is to describe the treatment and outcome of children and adolescents with N-methyl-D-aspartate receptor (NMDA-R) encephalitis. A retrospective study of children and adolescents with NMDA-R encephalitis was performed by the French Paraneoplastic Neurological Syndrome Reference Center between January 1, 2007 and December 31, 2012. The modified Rankin scale (mRS) was used to assess outcome. Thirty-six children and adolescents with NMDA-R encephalitis were studied. All of the patients received first-line immunotherapy (corticosteroids, intravenous immunoglobulins or plasma exchange), and 81% received second-line immunotherapy (rituximab or cyclophosphamide). Median time between first-line and second-line treatment was 26 days. During the first 24 months, 30 of 36 patients (83%) achieved a good outcome (mRS ≤ 2) and 20 of 36 patients (56%) achieved complete recovery (mRS = 0). Median time to good outcome and to complete recovery was 6 and 24 months, respectively. Three patients (8%) relapsed, one patient died. In multivariate analysis, age >12 years was a predictor of good outcome and initial mRS ≤ 3 was a predictor of complete recovery. Despite a higher rate of patients who received second-line immunotherapy, the outcome of the patients in the present series was very similar to the outcome reported in previous series. The present study highlights the need for clinical trials to determine the optimal treatment of NMDA-R encephalitis.
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http://dx.doi.org/10.1007/s00415-015-7781-9DOI Listing
August 2015

Refractory status epilepticus: electroconvulsive therapy as a possible therapeutic strategy.

Seizure 2012 Nov 9;21(9):661-4. Epub 2012 Aug 9.

Service de Neurophysiologie Clinique, Centre Hospitalier Universitaire Pellegrin, Bordeaux, France.

Refractory status epilepticus (SE) is a current daily therapeutic challenge. Electroconvulsive therapy (ECT), which is frequently used to treat psychiatric disorders, is known to raise the seizure threshold. As such, ECT could be of major interest in refractory SE. In this paper, we provide a brief overview of ECT in refractory SE. Although no placebo-controlled or open-label study has been published on the efficacy or safety of ECT in refractory SE, eight case reports have been identified. SE cessation was obtained in 80% of cases, and complete recovery was achieved in 27% of patients. Despite the heterogeneity of the ECT parameters used in these articles, we identified some common features that may be recommended for the use of ECT in refractory SE. ECT might be a viable therapeutic strategy for the most resistant and severe cases of SE, particularly after the failure of two inductions of anesthetic coma. This potential indication highlights the urgent need for clinical trials that assess the usefulness of ECT in refractory SE.
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http://dx.doi.org/10.1016/j.seizure.2012.07.010DOI Listing
November 2012

[Vomiting in infants and children].

Rev Prat 2011 Dec;61(10):1427-33

Unité de gastroentérologie et nutrition pédiatriques, CHU Bordeaux, Hôpital des enfants, 33076 Bordeaux Cedex, France.

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December 2011

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

Eur J Med Genet 2012 Feb 5;55(2):151-5. Epub 2012 Jan 5.

CHU Bordeaux, Hôpital Pellegrin, Service de Génétique Médicale, Centre de Référence des Anomalies du Développement Embryonnaire, 33076 Bordeaux cedex, France.

We report a 19 year-old patient carrying a terminal 20p microdeletion. She displayed clinical features resembling those of two other previously described patients. We suggest that a specific phenotype can be associated with this chromosomal anomaly. Mental retardation, epilepsy, and dysmorphic signs including low-set ears and overfolded helices seem highly characteristic of this syndrome and may define major diagnostic criteria of a recognizable phenotype. Delayed closure of fontanella, delayed permanent teeth eruption, visual disturbances, prominent ear lobes, prominent nasal root and ridge, thin upper lip and brachydactyly may represent inconstant minor criteria.
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http://dx.doi.org/10.1016/j.ejmg.2011.12.009DOI Listing
February 2012

Severe transient ADAMTS13 deficiency in pneumococcal-associated hemolytic uremic syndrome.

Pediatr Nephrol 2011 Apr 15;26(4):631-5. Epub 2010 Dec 15.

Service de Pédiatrie, Hôpital Pellegrin-Enfants, Centre Hospitalier Universitaire, Bordeaux, France.

Thrombotic microangiopathies comprise different entities, including hemolytic uremic syndrome (HUS), thrombotic thrombocytopenic purpura (TTP), and several other conditions. TTP is characterized by hemolytic anemia, thrombocytopenia, and multiorgan failure. TTP is the result of severe von Willebrand factor multimer cleaving protease (ADAMTS13) deficiency that is either inherited or the result of acquired autoantibodies. We report a critically ill 2-year-old girl with invasive pneumococcal disease associated HUS (p-HUS) whose condition was complicated by severe ADAMTS13 deficiency, without detectable inhibitor, in a context of multiple organ failure. The patient recovered with supportive treatment, and ADAMTS13 activity normalized without plasmatherapy. Severe ADAMTS13 deficiency appears to be a manifestation of transient endothelial cell injury in the context of severe sepsis, including invasive p-HUS. The choice of appropriate therapy should not be based on this finding.
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http://dx.doi.org/10.1007/s00467-010-1721-9DOI Listing
April 2011

Benign nocturnal alternating hemiplegia of childhood: two cases with positive evolution.

Brain Dev 2011 Jun 2;33(6):525-9. Epub 2010 Sep 2.

Department of Child Neurology, University Hospital of Bordeaux, 33076 Bordeaux Cedex, France.

Benign nocturnal alternating hemiplegia (BNAH) of childhood is distinct from the classic form of malignant alternating hemiplegia of childhood [1]. It is characterized by hemiplegic attacks occurring exclusively during sleep [2]. It can be misdiagnosed as migraine, nocturnal frontal lobe epilepsy, benign rolandic epilepsy, Panayiotopoulos syndrome, or sleep-related movement disorder [1-4]. Only nine patients have been described to date, with typically, a normal development [1,5-7]. In order to insist about the benignity of the affection, we report two cases: a new three-year-old boy suffering from BNAH and a patient already published to show positive evolution at fourteen years of age. BNAH is a rare disorder but may be underdiagnosed. Making an early diagnosis can help to describe to the parents the good prognosis without treatment.
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http://dx.doi.org/10.1016/j.braindev.2010.08.008DOI Listing
June 2011

Short-term effect of erythropoietin on brain lesions and aquaporin-4 expression in a hypoxic-ischemic neonatal rat model assessed by magnetic resonance diffusion weighted imaging and immunohistochemistry.

Pediatr Res 2010 Aug;68(2):123-7

Neonatal Intensive Care Unit, University Children's Hospital, Bordeaux 33076, France.

Erythropoietin (Epo) is an endogenous cytokine that regulates hematopoiesis and is widely used to treat anemia. In addition, it has recently increased interest in the neurosciences since the new concept of Epo as a neuroprotective agent has emerged. The potential protective effect of human recombinant Epo (r-hu-Epo) on a hypoxic-ischemic (HI) pup rat model was studied. Cerebral HI was obtained by permanent left carotid artery ligature of pups followed by a 2-h hypoxia. Three hours after carotid occlusion, brain lesions were assessed by magnetic resonance diffusion weighted imaging. Intraperitoneal administration of r-hu-Epo (30,000 U/kg dose) limited both the HI-induced brain lesion area and the decrease in apparent diffusion coefficient (ADC) in the lesion. To identify potential mechanisms underlying the effects of Epo, immunohistochemical detection of caspase-3 and water channel protein aquaporin-4 (AQP4) were performed. No early apoptosis was detected, but up-regulation of AQP4 expression was observed in HI pups that received r-hu-Epo compared with HI animals without treatment. This study demonstrates an early neuroprotective effect of Epo with regard to brain lesion area and ADC values. One possible mechanism of Epo for decreasing brain edema and cellular swelling could be a better clearance of water excess in brain tissue, a process possibly mediated by AQP4.
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http://dx.doi.org/10.1203/PDR.0b013e3181e67d02DOI Listing
August 2010

Congenital hyperekplexia: five sporadic cases.

Eur J Pediatr 2006 Feb 7;165(2):104-7. Epub 2005 Oct 7.

Service de Réanimation Néonatale, Pédiatrie 2, Hôpitaux Universitaires de Strasbourg, 1 avenue Molière, 67098 Strasbourg, France.

Unlabelled: We report fives sporadic cases of hyperekplexia or startle disease characterized by a highly exaggerated startle reflex and tonic attacks. Affected neonates suffer from prolonged periods of stiffness and are at risk for sudden death from apnea. An early diagnosis is needed. Sudden loud sounds, unexpected tactile stimuli or percussion at the base of the nose can also elicit excessive jerking or tonic attack. The diagnosis of hyperekplexia is a purely clinical one. A defect of the alpha1 subunit of inhibitory glycine receptor (GLRA1) has been observed in the dominant form with a mutation in the chromosome 5. Clonazepam is effective and decreases the severity of the symptoms. The disease tends to improve after infancy and the psychomotor development is normal. The major form of "hyperekplexia" should be considered whenever one is confronted with neonatal hypertonicity associated with paroxysmal tonic manifestations (without electroencephalography anomalies).

Conclusion: the diagnosis of hyperekplexia should be evaluated in any neonate with tonic attacks without evident cause.
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http://dx.doi.org/10.1007/s00431-005-0015-xDOI Listing
February 2006