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J Campos-Castelló

Publications and source records attributed to J Campos-Castelló.

At least 19 recordsLinked to original sources
PubMed2000

[Clinical aspects of epileptic ion channel disorders].

OBJECTIVE: One of the recent findings in the investigation of epileptogenesis is the localization of new gene situses and mutations of the ion channels. The pathology of these ion channel disorders is responsible for a considerable number of disorders affecting the central nervous and musculoskeletal systems. Their clinical expression is often paroxystic. Mutations cause inactivation of the channel, which depending of the degree, conditions the phenotype of the disorder. DEVELOPMENT: We studied the main ion channel disorders related to simply inherited idiopathic epileptic syndromes in which four genes have been codified to date: benign familial neonatal convulsions, generalized epilepsy with febrile seizures plus and autosomal dominant nocturnal frontal lobe epilepsy. CONCLUSIONS: The ion channels, both voltage dependent and receptor channels, are involved in the genesis of idiopathic epileptics syndromes. Their importance is due to their contribution to the understanding of epileptogenesis and its application to the investigation of drugs which modify the initial cause of the seizure. At present, it may be affirmed that the idiopathic epilepsies, or at least some of them, seem to form a family of ion channel disorders.

Epilepsy↗
PubMed2000

[Epilepsies and language disorders].

OBJECTIVE: To study the effects of the epilepsies, the seizures and electroencephalographic discharges on the cognitive function of the child, specifically his language. We consider the relationship between developmental dysphasia and epilepsy, bearing in mind that this association may occur fortuitously, as a consequence of the same cause or taking the epilepsy to be responsible for the language disorder, as seizures or continuously (epileptic aphasia). DEVELOPMENT: We assess the relation between developmental aphasia and seizure aphasia in the epilepsies, especially the syndrome of acquired epileptic aphasia of Laundau-Kleffner (LKS). Based on the findings in the literature and a personal series of nine cases, we studied their general characteristics, clinical heterogeneity, associated clinical signs and EEG changes (present in all patients); coexistence of convulsive seizures (67-90%); aetiopathogenic findings invoked but not currently conclusive; negative neuroimaging findings apart from some SPECT and PET data; differential diagnosis; clinical course and prognosis difficult to predict. The pharmacological and/or surgical treatment, complemented by logopedics and psychopedagogics (good results in < or = 50% of the cases), the unpredictable course of LKS has to be assessed cautiously. CONCLUSIONS: No direct relation can be confirmed between epilepsy and language disorders, although a relationship may be found in some cases. The hypothesis that LKS, continuous spike-and-wave during slow sleep and partial benign atypical epilepsy are the severe, moderate and mild forms of the same epileptic syndrome is generally accepted. This appears during a phase of maturation in which the brain is particularly vulnerable, and is characterized by continuous spike-and-wave complexes during slow sleep, which lead to cognitive and behaviour disorders.

Aphasia↗
PubMed1999

[Epileptic signs in alterations of neuronal migration].

INTRODUCTION: A wide range of conditions are due to alterations in neurone migration (ANM). Mental retardation, motor disorders and epilepsy are seen in all these disorders. Anomalies included with the ANM are those produced at the time of neuronal migration in the phase prior to neurone proliferation and during the time following cortical organization. All these have a common characteristic, namely an anomalous cerebral cortex (cerebral dysplasias). DEVELOPMENT: There is a high incidence of epilepsy in ANM (60%), appearing early (10% neonatal, 42% before 1 year old). The frequency of crises increases with age. Extended and diffused generalized forms presents as epileptic encephalopathies (Ohtahara, West, Lennox-Gastaut), whilst focal forms are seen as simple motor, partial crises, complex and secondarily generalized crises with a tendency to status epilepticus and also to continuous partial epilepsy. In diffuse, extensive forms, the EEG is characterized by large amplitude theta-delta rhythm activity (specific) with the presence of rapid activity (15-25 Hz) and of large amplitude (150-300 microV) which may also be found in other processes. In localized forms the recordings vary: localized discharges with/without crises, multifocal discharges in more than two lobes with a defined critical area, positive discharges, ipsilateral spike-and-wave complexes associated with focal discharges or with normal recordings. We review different types of ANM: in the phase of proliferation (hemimegalencephalia), the agyria-paquigyria complex; in phase of migration: type I lissencephalias (Miller-Dieker), layered heterotopias (double cortex), type II (cobblestone) lissencephalias and neuronal heterotopias, and in the phase of organization of the cortex: polymicrogyria and the esquissencephalias I and II. CONCLUSIONS: The functional prognosis in ANM depends on the control of the crises rather than on the extent of the lesion. Surgical treatment leads to 42% good or excellent results.

Brain↗
PubMed1998

[Multiple sclerosis in childhood: our experience and a review of literature].

INTRODUCTION: Multiple sclerosis (MS) is infrequent in childhood (0.3-2% of all cases of MS). At the present time more and more paediatric patients are being described. In this paper we describe our experience. MATERIAL AND METHODS: We review seven patients diagnosed as having MS before the age of 16, between 1984 and 1996. We have recorded: age, sex, personal and family history, form of onset and clinical course. CSF, neurophysiological and neuroimaging tests, treatment and diagnostic category according to the criteria of Poser. RESULTS: Four boys and three girls aged between three and thirteen years at the onset of the disorder. In one case there was a family history of MS. The most frequent form of onset was hemiparesia, followed by oculomotor paralysis and cerebellar disorders. Six cases followed a recurrent-remittent course and one followed a secondarily progressive course. There were oligoclonal bands (OGB) in the CSF in three cases. Visual evoked potentials (VEP) were abnormal in six cases. Magnetic resonance (RM) was a great help in diagnosis and in six cases was very informative. Six patients were treated with corticosteroids during the acute phase and two with long-term azathioprine. CONCLUSION: The commonest form of presentation, hemiparesia, makes the differential diagnosis with acute hemiplegia of childhood obligatory. Neurophysiological techniques, especially the VEP are very useful for initial assessment. RM is the most sensitive method, although it is not specific for diagnosis. The average follow-up period (4.5 years) is too short to determine the prognosis.

Adolescent↗
PubMed1998

[Neurological assessment of learning disorders].

INTRODUCTION: The neurological concept of learning is approached from a cybernetic point of view, taking into account that a child should recognize a fact, learn it semantically and decided whether it is worth storing; the dynamic aspect of memory is the true motor of the ability to learn and all this is modulated by the attention factor. DEVELOPMENT: The neurological evaluation of learning disorders is based on clinical examination which includes the so-called minor signs of the noetic functions, specifically language, the praxes, gnosias, perceptive-motor function, laterality and the lexical, graphic and calculation functions together with the modulating element, mentioned above, of the level of attention with or without hyperactivity. These semiological elements are grouped into three major categories of syndromes: motor syndrome, dyslexic-dysgraphic-dyscalculation syndrome and the hyperkinetic syndrome or attention deficit with hyperactivity. We also note the differential diagnosis. We review the neurophysiological biological markers (EEG and brain mapping, cerebral evoked potentials, neurometry) and those based on neuroimaging techniques (cerebral CT, MR, SPECT and PET). CONCLUSIONS: The contribution of neurological assessment is considered as part of the functions of a multi-disciplinary team which should deal with the diagnosis and treatment of children with learning disorders.

Attention Deficit Disorder with Hyperactivity↗
PubMed1995

[Stereotypies].

Explore the source record for details and available documents.

Autistic Disorder↗
PubMed1988

[Rett's syndrome: study of 15 cases].

A multicentric study of 15 cases of Rett syndrome selected with the diagnostic criteria according HAG-BERG et al: female sex, normal pre and perinatal period, normal psychomotor development through the first months of life, early dementia between 1-3 years of age with autistic behaviour, loss of acquired purposeful hand skill, "washing hands" stereotypies, normal head circumference at birth with later deceleration of head growth and truncal ataxia with gait apraxia. Waking EEG showed unspecific abnormalities while sleep recording demonstrated extremely frequent multifocal spike and sharp waves mainly over the rolandic region and generalized, and also pseudo-periodic suppression of background activity. In 3 cases the EMG showed a peripheral axonal neuropathy. Only in one case we found hyperammonemia. Karyotypic studies performed in 12 cases demonstrated non specific fragile sites. CT scan was normal in almost all cases. The QD was extremely low.

Ammonia↗
PubMed1984

[Continuous oral phenobarbital or intermittent rectal diazepam for the prevention of febrile convulsions].

During 18 months 100 children were submitted to a longitudinal study, in order to compare the efficacy of treatment with administration of intermittent rectal diazepam versus oral BID phenobarbital therapy, for prevention of febrile seizures. The group was divide in a randomized trial. Rectal diazepam was administered at dose os 0.5 mg/kg dose and the dose was repeated every eight hours during the period of fever. Diazepam was found to be as effective as oral phenobarbital in the prevention of new febrile seizures.

Administration, Oral↗
PubMedDate not supplied

[Congenital ataxias of genetic origin with structural anomalies of the cerebellum].

Congenital ataxia is not a rare condition for who is involved in the practice of pediatric neurology. After a brief description on the normal development of the cerebellum, we present an extensive review on the neurological disorders due to malformations or metabolic disorders associated with hypoplasia of the cerebellum and congenital ataxia.

Ataxia↗
PubMedDate not supplied

[The phenomenon of genomic "imprinting" and its implications in clinical neuropediatrics].

OBJECTIVE: We comment on the most important advances related to the phenomenon of genomic 'imprinting' in clinical paediatric neurology. DEVELOPMENT: Initially, we review the biological findings related to this subject and establish various concepts. Later, we attempt to clarify the different mechanisms of expression of the phenomenon 'imprinting' and its application in clinical practice. We give a detailed review of the various neurological disorders in which this genetic phenomenon has been involved to date. Finally, we attempt to determine when this genetic alteration should be suspected and which molecular biology techniques should be used to confirm the diagnosis. CONCLUSIONS: 1. Clinical diagnosis suspecting that the presence of genomic 'imprinting' may be the mechanism causing a particular pathology should be based on a family tree showing that both sexes and all generations are affected and that the severity of the same disease varies among different members of the same family; 2. Study strategy includes studying the methylation pattern of the DNA. If there are changes in this, PCR should be done to show the exact pattern of the alteration.

Angelman Syndrome↗
PubMedDate not supplied

[Visual evoked potentials in children with tension headaches and migraine].

OBJECTIVE: To determine whether visual evoked potentials (VEP) change, and to what degree, in different types of headache (migraine with or without aura, or tension headache). PATIENTS AND METHODS: We made a transversal study of 78 children (aged 3-14 years) studied between March 1997 and August 1998, classified into three groups according to HIS diagnostic criteria of 1988 and HIS-R 1997. A VEP of geometric pattern was done using the recording technique recommended by the International Society in their standards for VEP and the reference values were used for an amplitude of less than 5 microV and a latency of P100 +/- 15 ms. The qualitative variable was frequency, and the quantitative variables were the mean and the standard deviation. We studied the association between qualitative variables using the chi-squared test and the differences in means between the groups with ANOVA. All differences were considered to be statistically significant when p < 0.05. RESULTS: Girls made up 55%, with an average age of 8.84 years and a standard deviation of 3 years. There were no statistically significant differences in the mean of the VEP findings between the different types of headache with regard to amplitude (p = 0.975) and latency (p = 0.941). Neither were there any significant differences in the response to VEP in the different types of headache as far as sex and age were concerned, with p = 0.268 and p = 0.147 respectively. CONCLUSION: Our results show no statistically significant differences and do not support the idea of using VEP as a neurophysiological method for studying headaches and differentiating the various types.

Adolescent↗
PubMedDate not supplied

[Cerebral hemorrhage in full term newborns].

INTRODUCTION: Cerebral hemorrhages in full-term newborn babies are an important factor in neonatal morbidity and mortality and very frequent in premature babies. In full-term newborn the frequency is reduced to 1-2% and the aetiopathogenesis is basically related to birth trauma. OBJECTIVE: To identify the clinical forms of cerebral hemorrhages in full-term newborn before taking prophyllactic and/or therapeutic measures if possible. DEVELOPMENT: Based on the integrated physio-pathological model of Wigglesworth and Pape, two anatomo-pathological patterns were established according to gestational age. Topographic classification was done in full-term newborn according to site (subarachoid, subdural, intraventricular, cerebellar and intraparenchymatous). We studied the pathogenesis, clinical features and diagnosis of each of these sites and emphasize the importance of neuroimaging. CONCLUSIONS: The diagnostic approach proposed permits an aetiopathogenic and therapeutic view which currently permits improved prognosis and even cure in many cases.

Cerebral Hemorrhage↗
PubMedDate not supplied

[Practical considerations regarding the diagnosis and treatment of disorders of movement in childhood].

OBJECTIVE: Disorders of movement in children frequently cause difficulties with both the semiology and the diagnostic approach. DEVELOPMENT: Based on our experience, we analyze useful strategies to overcome these difficulties and consider the clinical semiology, use of complementary tests and therapeutic approach. CONCLUSION: Correct clinical identification is the essential basis for differential diagnosis and therapeutic management of the disorders of movement.

Child↗