RESUMEN
BACKGROUND: Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and compared with 13 previously reported patients. METHODS: Clinical data were collected from 14 novel patients that had been investigated by high resolution microarray techniques. Molecular investigation and updated clinical information of one cytogenetically previously reported patient were also included. RESULTS: The molecular investigation identified deletions in the region 3q12.3q21.3 with different boundaries and variable sizes. The smallest studied deletion was 580 kb, located in 3q13.31. Genotype-phenotype comparison in 24 patients sharing this shortest region of overlapping deletion revealed several common major characteristics including significant developmental delay, muscular hypotonia, a high arched palate, and recognisable facial features including a short philtrum and protruding lips. Abnormal genitalia were found in the majority of males, several having micropenis. Finally, a postnatal growth pattern above the mean was apparent. The 580 kb deleted region includes five RefSeq genes and two of them are strong candidate genes for the developmental delay: DRD3 and ZBTB20. CONCLUSION: A newly recognised 3q13.31 microdeletion syndrome is delineated which is of diagnostic and prognostic value. Furthermore, two genes are suggested to be responsible for the main phenotype.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 3 , Discapacidades del Desarrollo/genética , Facies , Genitales Masculinos/anomalías , Trastornos del Crecimiento/genética , Discapacidades del Desarrollo/diagnóstico , Femenino , Estudios de Asociación Genética , Humanos , Masculino , Proteínas del Tejido Nervioso/genética , Receptores de Dopamina D3/genética , Síndrome , Factores de Transcripción/genéticaRESUMEN
Muscle biopsy is a mainstay diagnostic tool for investigating neuromuscular disorders in children. We report the yield of pediatric muscle biopsy in a population of 415 children by a retrospective study of 419 biopsies performed between 1/01/2000 and 31/12/2009 in a neuropediatric department, including mitochondrial respiratory chain analysis for 87 children. Two hundred and fifty-five biopsies were from boys (61%) 164 from girls (39%). Their mean age at biopsy was 6.5years; 155 (37%) biopsies were obtained before the child was 5years old. Final histopathological diagnoses were: congenital myopathy (n=193, including 15 structural congenital myopathies); progressive muscular dystrophy (n=75 [18%] including 57 dystrophinopathies); congenital muscular dystrophy (n=17, including six primary merosinopathies); dermatomyositis (n=11); spinal muscular atrophy (n=9, including six atypical spinal muscular atrophies); metabolic myopathy (n=32, including 19 mitochondrial myopathies); encephalomyopathy (n=53 [13%], including 27 with a mitochondrial respiratory chain defect). Pathological diagnosis remained undetermined in 16 cases. In 184 patients (44%), the muscle biopsy revealed specific histopathological anomalies (dystrophic process; specific ultrastructural abnormalities; perifascicular atrophy; neurogenic atrophy; metabolic anomalies) enabling a precise etiological diagnosis. For 85% of progressive muscular dystrophies, the biopsy resulted in a genetic diagnosis after identification of the protein defect. In 15% of the congenital myopathies, histopathological anomalies focused attention on one or several genes. Concerning dystrophinopathies, quantification of dystrophin deficiency on the biopsy specimen contributed to the definition of the clinical phenotype: Duchenne, or Becker. In children with a myopathy, muscle biopsy is often indispensable to establish the etiological diagnosis. Based on the results from this series, muscle biopsy can provide a precise orientation in 45% of patients, leading to a genetic hypothesis.
Asunto(s)
Músculo Esquelético/patología , Enfermedades Neuromusculares/diagnóstico , Adolescente , Biopsia , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Enfermedades Neuromusculares/clasificación , Enfermedades Neuromusculares/congénito , Valor Predictivo de las Pruebas , Estudios RetrospectivosRESUMEN
The complete form of congenital stationary night blindness (cCSNB) represents a non-progressive retinal disorder characterized by night vision problems and often congenital nystagmus, reduced vision, high myopia, strabismus and normal fundus appearance. Clinically this form of CSNB can be diagnosed by full-field electroretinogram. The mode of inheritance can be X-linked and autosomal recessive with mutations in genes coding for proteins mainly present at the dendritic tips of ON-bipolar cells. Mutations in NYX, GRM6, GPR179, LRIT3 and TRPM1 lead to this condition. The latter gene defect represents the major form underlying cCSNBC. It codes for the melastatin-related transient receptor 1 expressed in the inner nuclear layer of the retina, with the protein localized in ON-bipolar cells. To date, various homozygous or compound heterozygous mutations in TRPM1 have been reported. Small chromosomal rearrangements are frequent cause of mental retardation. In rare cases deletions can overlap with a mutation on the remaining chromosome and lead to a recessive disorder. Here, we describe a patient with mild neurological deficiencies and cCSNB caused by a microdeletion on 15q32 overlapping with a TRPM1 variant.
Asunto(s)
Enfermedades Hereditarias del Ojo/genética , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Discapacidades para el Aprendizaje/genética , Mutación Missense/genética , Miopía/genética , Ceguera Nocturna/genética , Canales Catiónicos TRPM/genética , Preescolar , Deleción Cromosómica , Cromosomas Humanos Par 15/genética , Adaptación a la Oscuridad/fisiología , Electrorretinografía , Enfermedades Hereditarias del Ojo/diagnóstico , Femenino , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Genotipo , Heterocigoto , Humanos , Discapacidades para el Aprendizaje/diagnóstico , Miopía/diagnóstico , Ceguera Nocturna/diagnóstico , Estimulación LuminosaRESUMEN
The increasing use of array-comparative genomic hybridization (array-CGH) to identify copy number variations (CNVs) in patients with developmental delay (DD), mental retardation and/or dysmorphic features has allowed the recent recognition of numerous genomic imbalances, including the 15q13.3 microdeletion. Patients with this microdeletion generally present with relatively consistent breakpoints at BP4 and BP5, which include the CHRNA7 gene. About 100 index cases have been reported since the first publication in 2008. This large number of patients ascertained through highly variable samples has been necessary to describe the full phenotypic spectrum of this microdeletion, ranging from mental retardation with dysmorphic features, epilepsy, neuropsychiatric disturbances with or without cognitive impairment to complete absence of anomalies. Here, we describe a collaborative study reporting a new cohort of 12 index patients and 13 relatives carrying a heterozygous BP4-BP5 microdeletion out of a series of 4625 patients screened by array-CGH for DD. We confirm the clinical expressivity of the disease as well as the incomplete penetrance in seven families. We showed through a review of the literature that males are more likely to be symptomatic. Sequence analysis of CHRNA7 yielded no data to support the unmasking of recessive variants as a cause of phenotypic variability. We also report the first patient carrying a 15q13.3 homozygous microdeletion inherited from both parents. He had severe epileptic encephalopathy with retinopathy, autistic features and choreoathetosis. Besides the classical approximately 1.5 Mb BP4-BP5 microdeletion, we also describe three index patients and two relatives with a smaller 500 kb microdeletion, including the CHRNA7 gene.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 15/genética , Adolescente , Emparejamiento Base/genética , Niño , Preescolar , Hibridación Genómica Comparativa , Femenino , Heterocigoto , Humanos , Patrón de Herencia/genética , Masculino , Linaje , FenotipoRESUMEN
INTRODUCTION: The ketogenic diet is an adequate treatment for drug-resistant epilepsy and certain inborn metabolic disorders. The efficacy of the ketogenic diet for the treatment of epilepsy is now well established. In France, and more widely in Europe, there is currently no consensus concerning appropriate initiation of the ketogenic diet and subsequent patient management. METHODS: Using the same questionnaire in 2005 and 2008, we retrospectively recorded the practices of child neurology departments of the French university hospitals during three study periods (2001-2002, 2002-2003 and 2005-2008). The aim was to evaluate the number of ketogenic diets started and how the ketogenic diet was initiated. RESULTS: The ketogenic diet was widely used by pediatric neurologists. The number of patients on a ketogenic diet increased over time. Diet initiation protocols also changed over time, being modified adequately with advances in knowledge of the ketogenic diet. CONCLUSION: The French pediatric neurologists appear to have a good understanding of the ketogenic diet.
Asunto(s)
Dieta Cetogénica/estadística & datos numéricos , Epilepsia/dietoterapia , Anticonvulsivantes/uso terapéutico , Niño , Resistencia a Medicamentos , Epilepsia/tratamiento farmacológico , Epilepsia/epidemiología , Alimentos Formulados , Francia , Encuestas de Atención de la Salud , Hospitales Universitarios , Humanos , Prescripciones/estadística & datos numéricos , Estudios Retrospectivos , Encuestas y CuestionariosRESUMEN
The prevalence and characterization of premonitory symptoms have not been rigorously studied in children and adolescents. Using a questionnaire, we retrospectively studied the prevalence of 15 predefined premonitory symptoms in a clinic-based population. In 103 children and adolescents fulfilling the International Classification of Headache Disorders, 2nd edn criteria for paediatric migraine, at least one premonitory symptom was reported by 69 (67%). The most frequently reported premonitory symptoms were face changes, fatigue and irritability. The mean number of premonitory symptoms reported per subject was 1.8 (median 2.2). Age, migraine subtype (with or without aura) and mean attack frequency per month had no effect on the mean number of premonitory symptoms reported per subject. In conclusion, premonitory symptoms are frequently reported by children and adolescents with migraine. Face changes seem to be a premonitory symptom peculiar to paediatric migraine.
Asunto(s)
Trastornos Migrañosos/epidemiología , Adolescente , Niño , Preescolar , Fatiga/epidemiología , Femenino , Humanos , Hiperacusia/epidemiología , Hipercinesia/epidemiología , Masculino , Trastornos del Humor/epidemiología , Náusea/epidemiología , Dolor de Cuello/epidemiología , Fotofobia/epidemiología , Prevalencia , Trastornos del Sueño-Vigilia/epidemiología , Encuestas y Cuestionarios , BostezoRESUMEN
Convulsive status epilepticus in childhood is a life threatening condition with serious risk of neurological sequelae which constitutes a medical emergency. Clinical and experimental data suggest that prolonged seizures can have immediate and long-term adverse consequences on the immature and developing brain. So the child who presents with a continuous generalized convulsive seizure lasting greater than five minutes should be promptly treated. The outcome is mainly determined by the underlying etiology, age and duration of status epilepticus. In children the mortality from status epilepticus ranges from 3 to 5% and the morbidity is two-fold higher. Mortality and morbidity are highest with status epilepticus associated with central nervous system infections, which is the most important cause of status epilepticus. There are few evidence-based data to guide management decisions for the child with status epilepticus. Immediate goals are stabilization of airways, breathing and circulation and termination of seizures. Benzodiazepines remain the first-line drugs recommended for prompt termination of seizures. As intravenous lorazepam is not available in France, we suggest clonazepam as the best choice for initial therapy. Rectal diazepam or buccal midazolam remain important options. Intravenous phenytoin/fosphenytoin and phenobarbital are the second-line drugs. Phenytoin is being increasingly substituted by fosphenytoin, but pediatric data are scarce and fosphenytoin is not authorized for use in France below five years old. In children, phenytoin is often preferred to phenobarbital, even though no comparative studies have demonstrated a better efficacy. To manage status epilepticus refractory to a benzodiazepine and administration of phenytoin and/or phenobarbital, many pediatricians today prefer high-dose midazolam infusion rather than thiopental to minimize serious side effects from barbiturate anesthesia. There is no benefit/risk ratio to support the use of propofol for children with refractory status epilepticus.
Asunto(s)
Convulsiones/terapia , Estado Epiléptico/terapia , Anticonvulsivantes/uso terapéutico , Niño , Preescolar , Diagnóstico Diferencial , Resistencia a Medicamentos , Electroencefalografía , Humanos , Lactante , Recién Nacido , Pronóstico , Convulsiones/tratamiento farmacológico , Convulsiones/epidemiología , Convulsiones/fisiopatología , Estado Epiléptico/tratamiento farmacológico , Estado Epiléptico/epidemiología , Estado Epiléptico/fisiopatologíaRESUMEN
The ketogenic diet is a high-fat, low-protein, low-carbohydrate diet that has been employed as a nonpharmacologic therapy for intractable epilepsy. Several multicenter or randomized studies have demonstrated the anticonvulsive properties of the ketogenic diet. The reports on the clinical efficacy have described a greater than 50% reduction in seizure frequency for about 60% of patients on a ketogenic diet. Efficacy has been reported both for child-teenager and adult patients. Patients who were responders to the ketogenic diet exhibited a decrease in seizure frequency within two months of treatment onset. Underlying mechanisms remain unknown. The current hypotheses are: anticonvulsive properties of ketone bodies, variation in excitatory or inhibitory brain neurotransmissions, modulation of cell excitability or implication of polyunsaturated fatty acids. Ketogenic diet is a fastidious and restrictive therapy. Moreover, side effects have been reported. In order to facilitate patient tolerability and palatability, the diet protocols are gradually modified including changes in ratios of the fat versus non fat components, initiation of the diet with or without fasting, fatty acids composition. A modified Atkins diet seems to be a possible alternative diet with a comparable efficacy on intractable epilepsy. This diet induces ketosis without fluid, calorie or protein restriction, nor the requirement for fasting and food weighing. Furthermore, 10 to 20 grams carbohydrates are allowed per day to increase patient tolerability and palatability. New data suggest that ketogenic diet and its variants should not be considered like a "last chance" treatment.
Asunto(s)
Dieta Cetogénica/métodos , Epilepsia/dietoterapia , Convulsiones/prevención & control , Gusto , Adolescente , Adulto , Encéfalo/fisiopatología , Niño , Dieta Baja en Carbohidratos , Dieta con Restricción de Proteínas , Grasas de la Dieta , Epilepsia/fisiopatología , Humanos , Transmisión Sináptica/fisiología , Resultado del TratamientoRESUMEN
Febrile seizures (FS) are the most common etiology of seizure in infants and children. The pathophysiological mechanisms are not clearly understood. We review the current factors that are thought to be involved in FS occurrence. Genetic factors, a fever component (immune response to infection and rise in body temperature), and neurotopic viruses are discussed. There are currently no data supporting the notion that a rapid rise in temperature provokes FS. Regarding the available data, it is obvious that several factors act together to induce FS.
Asunto(s)
Convulsiones Febriles/fisiopatología , Niño , Preescolar , Fiebre/prevención & control , Predisposición Genética a la Enfermedad , Humanos , Lactante , Inflamación/fisiopatología , Mutación , Polimorfismo Genético , Convulsiones Febriles/genética , Convulsiones Febriles/inmunologíaRESUMEN
Gastrointestinal symptoms are very frequent in myotonic dystrophy but largely unrecognized. They can be the revealing factors of the disease. We report 2 cases of 10 and 17-year-old children with persistent encopresis starting at the age of 3 and 5 years in spite of laxative treatment. Neurological examination and anorectal manometry provided the diagnosis of myotonic dystrophy. Procainamide treatment was introduced and the digestive symptoms improved. Any child with encopresis should have complete evaluation to rule out the diagnosis of myotonic dystrophy and physicians should look for upper and/or lower gastrointestinal symptoms in every patient with myotonic dystrophy.
Asunto(s)
Encopresis/etiología , Distrofia Miotónica/diagnóstico , Procainamida/uso terapéutico , Adolescente , Canal Anal/fisiopatología , Niño , Preescolar , Encopresis/tratamiento farmacológico , Humanos , Masculino , Manometría , Distrofia Miotónica/tratamiento farmacológico , Recto/fisiopatologíaRESUMEN
Children with a written language disorder are sometimes dependent upon help from others for their schoolwork. A computer can be a way to circumvent this difficulty. Various software programs and plug-in peripheral devices are available, some of which specifically target the needs of these young people. There is no consensus, however, with regard to how best to counsel parents and children with regard to these tools. Furthermore, written language disorders and existing technical supports are not always clearly understood. In many cases, healthcare and teaching professionals have only limited knowledge of the potentially specific advantages for patients with written language disorders. A child's full integration into daily activities and school life can be hampered by counseling that was inadequately tailored or by a lack of support in using this equipment. Joint consultations involving both an occupational and a speech therapist have been set up in our department to improve counseling with regard to technical supports. Using our daily practice as a basis, we have developed a decision tree that we see as a necessary tool for helping professionals make the most appropriate practical choices.
Asunto(s)
Toma de Decisiones Clínicas/métodos , Equipos de Comunicación para Personas con Discapacidad , Consejo/métodos , Trastornos del Lenguaje/rehabilitación , Terapia Ocupacional/métodos , Niño , Árboles de Decisión , Humanos , Grupo de Atención al PacienteRESUMEN
AIMS: Although modifications of the survival motor neurone gene are responsible for most spinal muscular atrophy (SMA) cases, the molecular pathophysiology and the muscular target proteins involved are still unknown. The aim of this study was to compare the expression of contractile and regulatory protein isoforms in quadriceps muscles from SMA children with age-matched control quadriceps. METHODS: The isoform patterns of myosin heavy chains (MHC), troponin subunits (T, C and I) and tropomyosin were determined by immunoblotting, reverse transcription-polymerase chain reaction and mass spectrometry analyses. Depending on the disease severity, their expression levels were followed in specific variants of SMA populations (types I, II and III), with comparison with age-matched control muscles. RESULTS: The isoform transitions in SMA muscles were different from the fast-to-faster transitions occurring in normal muscles from children aged 1 month to 5 years old. Moreover, the expression of the neonatal MHC isoform was not repressed in SMA muscles. CONCLUSIONS: The presence of the neonatal MHC isoform in SMA muscles indicates an alteration of the phenotype in these diseased muscles. It is strongly suggested that MHC and troponin T proteins may be good markers for the SMA pathology.
Asunto(s)
Proteínas Contráctiles/metabolismo , Músculo Cuádriceps/metabolismo , Atrofias Musculares Espinales de la Infancia/metabolismo , Secuencia de Aminoácidos , Análisis de Varianza , Biopsia , Preescolar , Proteínas Contráctiles/genética , Expresión Génica , Humanos , Immunoblotting , Lactante , Espectrometría de Masas , Cadenas Pesadas de Miosina/genética , Cadenas Pesadas de Miosina/metabolismo , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , ARN Mensajero/metabolismo , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Atrofias Musculares Espinales de la Infancia/genética , Tropomiosina/genética , Tropomiosina/metabolismo , Troponina C/genética , Troponina C/metabolismo , Troponina I/genética , Troponina I/metabolismo , Troponina T/genética , Troponina T/metabolismoRESUMEN
The aim of this study was to evaluate the concordance between clinical diagnosis and the International Classification of Headache Disorders, 2nd edn (ICHD-II) in children and adolescents with primary headaches. This 6-month prospective multicentre study of 486 patients (mean 9.8 +/- 3.1 years; 52.6% girls) assessed the headache features through a structured questionnaire. In 398 patients with a single type of headache, headaches were bilateral (78.1%), frontal (62.4%), pulsatile (56.1%), with associated symptoms in 84.4%. The most frequently assigned diagnoses were migraine without aura (50.8%), probable migraine (14.1%), migraine with aura (11.1%) and frequent episodic tension-type headache (7.5%). For most of the diagnostic categories, the consistency of the investigator's diagnosis with the ICHD-II criteria was good (kappa > 0.6 and < or = 0.8) or excellent (kappa > 0.8). We conclude that migraine was predominant with regard to headache diagnoses repartition and that the ICHD-II seems usable in practice for evaluation of primary headache in French children and adolescents.
Asunto(s)
Cefaleas Primarias/clasificación , Cefaleas Primarias/diagnóstico , Adolescente , Niño , Preescolar , Femenino , Francia , Cefaleas Primarias/fisiopatología , Humanos , Masculino , LinajeRESUMEN
INTRODUCTION: Sturge-Weber syndrome is a neurocutaneous disease associating facial and pial angioma. Focal epilepsy is a common sign. In a few cases, generalized seizures have been reported. CASE REPORT: We report on a four-year-old girl with Sturge-Weber syndrome. The first focal seizures occurred at three years of age. She developed refractory status epilepticus. At discharge from the PICU, she was on a ketogenic diet and received three antiepileptic drugs. No seizures were observed for four months. The patient then developed several types of seizures: myoclonic seizures, focal clonic seizures, and sudden falls. We were unable to determine the etiology of the falls. Typical myoclonic astatic seizures were identified on video-electroencephalographic recordings. CONCLUSION: Seizures in Sturge-Weber syndrome are usually focal. Four patients with Sturge-Weber syndrome and myoclonoastatic seizures are reported in the literature. We discuss the pathophysiological mechanisms leading from a focal lesion to generalized myoclonoastatic seizures.
Asunto(s)
Epilepsias Mioclónicas/etiología , Síndrome de Sturge-Weber/diagnóstico , Accidentes por Caídas/estadística & datos numéricos , Preescolar , Epilepsias Mioclónicas/fisiopatología , Femenino , Humanos , Trastornos del Movimiento/etiología , Juego e Implementos de Juego , Convulsiones/etiología , Síndrome de Sturge-Weber/fisiopatologíaRESUMEN
Myoclonus presents as a sudden brief involuntary jerk triggered by the central nervous system. Electromyographic studies enable determining whether the jerk is caused by a muscular contraction, i.e. positive myoclonus, or by an interruption of muscular activity, i.e. negative myoclonus. Many classifications have been proposed, reflecting our lack of understanding about myoclonus. Myoclonus is a symptom and should never be considered as a diagnosis. Clinical history and physical examination are the basis to diagnosis. Clinical neurophysiology testing can reveal a neuroanatomical localization and certain patterns have some etiological specificity. Etiological hypotheses can be put forward on the basis of clinical and neurophysiological data. The cortex is the most commonly identified source of myoclonus, but the subcortical area and spinal area can also be involved. Myoclonus is considered epileptic when it is combined with an epileptiform discharge on the EEG. The International Classification of Epileptic Syndromes should be applied in this situation. Myoclonic epilepsies are a collection of syndromes in which myoclonic seizures are a prominent feature. Myoclonus can occur as one among several seizure components, as the only manifestation of seizure, or as one of multiple seizure types within an epileptic syndrome. Neurophysiological studies are needed to investigate the pathophysiological mechanisms of the myoclonus. Electrophysiological studies report that myoclonic seizures are produced through a cortical generator via a polysynaptic mechanism acting on muscles. Apparently, the epileptiform discharges stimulate the motor cortex resulting in myoclonus jerk. Despite recent progress, advances are still needed to achieve a better understanding of the pathophysiological mechanisms involved in myoclonus. In myoclonic epileptic syndromes, more useful information can probably be obtained from studies grouping several patients with a same epileptic syndrome than from single case reports.
Asunto(s)
Epilepsias Mioclónicas/diagnóstico , Epilepsias Mioclónicas/fisiopatología , Mioclonía/diagnóstico , Mioclonía/fisiopatología , Electroencefalografía , Electromiografía , Epilepsias Mioclónicas/clasificación , Humanos , Mioclonía/clasificaciónRESUMEN
According to the criteria of the International Headache Society, migraine occurs in approximately 5 to 10% of children. As many as 30% of young patients with migraine experience such frequent and disabling attacks, or have unsatisfactory results and/or experience adverse effects with pharmacologic treatment of acute migraine attack, that daily preventive medications are required. Many studies have investigated the use of antiepileptic drugs in this indication but there is a paucity of placebo-controlled studies. So far, in the setting of migraine with and without aura, only flunarizine and topiramate have proved their efficacy in more than one placebo-controlled study. Uncontrolled studies suggest the possible efficacy of valproic acid, gabapentin, levetiracetam, zonisamide, and magnesium in preventive therapy of childhood periodic syndromes. Most of antiepileptic drugs used in pediatric preventive therapy are well tolerated. The most common adverse events are asthenia and somnolence.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Trastornos Migrañosos/tratamiento farmacológico , Niño , Flunarizina/uso terapéutico , Fructosa/análogos & derivados , Fructosa/uso terapéutico , Humanos , TopiramatoRESUMEN
Chronic daily headache (CDH) affects 2-4% of adolescent females and 0.8-2% of adolescent males. Chronic daily headache is diagnosed when headaches occur more than 4h/day, 15 headache days per month or more, over a period of 3 consecutive months, without an underlying pathology. It is manifested by severe intermittent, migraine-like headaches as well as by chronic baseline headaches. Both Silberstein-Lipton criteria and the second edition of the International Classification of Headache Disorders (ICHD) can be used to classify chronic daily headache in children and adolescents. Chronic daily headache is classified into four diagnostic categories: transformed (Silberstein-Lipton criteria)/chronic (ICHD) migraine, chronic tension-type headache, new daily persistent headache, and hemicrania continua. Children and adolescents with chronic daily headache frequently have sleep disturbance, pain at other sites, dizziness, medication-overuse headache, and a psychiatric comorbidity (anxiety and mood disorders). Chronic daily headache frequently results in school absence. Successful approaches to treatment include reassurance, education, use of preventative medication, avoidance of analgesics, and helping the child return to a functional daily routine and a regular school schedule.
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Trastornos de Cefalalgia , Adolescente , Adulto , Analgésicos/efectos adversos , Niño , Femenino , Trastornos de Cefalalgia/inducido químicamente , Trastornos de Cefalalgia/diagnóstico , Trastornos de Cefalalgia/tratamiento farmacológico , Trastornos de Cefalalgia/epidemiología , Trastornos de Cefalalgia/fisiopatología , Trastornos de Cefalalgia/terapia , Humanos , Masculino , Educación del Paciente como Asunto , Fitoterapia , Prevalencia , Pronóstico , Factores SexualesRESUMEN
Seizures are the most common pediatric neurologic disorder. This article describes the guidelines of the French Pediatric Neurology Society, highlighting the importance of a thorough history and examination. Paroxysmal nonepileptic events should be excluded. The role of biological and neuroradiological investigations is discussed. An electroencephalographic recording and advice from a pediatric neurologist are suggested.
Asunto(s)
Convulsiones/diagnóstico , Niño , Preescolar , Humanos , Lactante , Convulsiones/etiologíaRESUMEN
Problems in mathematics are a frequent major complaint in neuropediatric departments, for which there are two explanatory theoretical models: the hypothesis of a genetic and modular origin (with a number sense deficit) and a multidetermined origin. The purpose of this paper is to review the mathematical difficulties described in Turner syndrome and Fragile X syndrome, because a specific mathematical disorder is usually reported in these populations, supporting the existence of a number sense. Analysis of the literature reveals highly variable cognitive phenotypes in these populations, especially regarding mathematical abilities. Performance heterogeneity might be related to different factors such as the abilities needed to perform the task, the variability of definitions, the different tests used in the studies and the heterogeneity of the syndromes themselves. A number sense deficit is usually described in these syndromes, but variable cognitive impairments are also observed. The idea of a modular functioning is then debated and we argue for the necessity of a global cognitive evaluation approach.
Asunto(s)
Síndrome del Cromosoma X Frágil/complicaciones , Discapacidades para el Aprendizaje/genética , Matemática , Síndrome de Turner/complicaciones , Pruebas de Aptitud , HumanosRESUMEN
We report on a 3-year-old child with bracelet localisation of chickenpox. Varicella with unusual clinical aspects and course is known as atypical varicella; it is characterized by its unique clinical features, unusual distribution, or a prolonged course. In case of atypical varicella, clinical diagnosis can be difficult. Pre-existing factors have been reported such as immunocompromised status, sun exposition, local injury and pre-existing rash.