[Immigration and neuropaediatrics. Introduction].
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Child↗
Biomedical subjects
C Casas-Fernández
Publications and source records attributed to C Casas-Fernández.
[Transient cognitive disorder from sub clinical paroxysmal EEG activity].
INTRODUCTION: Transient cognitive disorder (TCD) defines the existence of a decrease in reaction time that coincides with an epileptiform EEG discharge, without any simultaneous manifestation of a classical epileptic seizure. Aims. To analyse the relation between episodes of TCD and the neurolopsychological manifestations in infancy that condition a high percentage of neuropaediatric visits to the surgery. At the same time we analyse the relation between the interictal paroxysmal disorders of patients with childhood benign partial idiopathic epilepsy with centrotemporal spikes (BIE CS) and the neurolopsychological manifestations that are frequently detected in such patients. PATIENTS AND METHODS: Two groups of patients were studied. Group A: 23 children who sought medical attention because of different neurolopsychological disorders (language retardation, hyperactivity, lack of attention, retarded academic achievement, behavioural disorders, bad social interaction); gender: 16 males and 7 females; age interval: from 2 years and 10 months to 11 years and 1 month (average age: 6 years and 8 months). Group B: 10 patients who were BIE CS carriers, two of which evolved toward atypical BIE; gender: 5 males and 5 females; age interval: from 3 years and 3 months to 9 years and 9 months (average age: 7 years and 4 months). Both groups were submitted to a clinical examination protocol involving neurological, EEG, child psychiatric and psychological aspects. RESULTS: In group A, sub clinical paroxysmal EEG discharges were seen in three cases, two of which corresponded to a lack of attention disorder with hyperactivity, and the third had a generalised growth disorder. In group B we detected a high percentage of perceptive and psychomotor disorders, without the existence of differences between those who displayed an irritative focus in the right or in the left hemisphere, although the alteration in the level of language was greater in the latter. Likewise, in a large percentage of cases (80%) the evaluation of the level of personality revealed obvious anxiety traits, which were related with suffering from seizures. CONCLUSIONS: Sufficient evidence has been found to demonstrate the existence of the possible relation between different neuropsychological disorders and epileptic EEG discharges, although revealing it in daily clinical practice requires a thorough diagnostic protocol and an accurate neuropsychological examination under video EEG monitoring, the positive results of which are considered to be decisive in evaluating the possibility of pharmacological treatment.
Child↗
[Characteristics and indications of tiagabine].
INTRODUCTION: Tiagabine (TGB) is an anti epileptic drug whose mechanism of action is due to a reduction in the neurone and astrocyte uptake of gamma aminobutyric acid (GABA), causing its concentration at the synapse to be increased. DEVELOPMENT: We analyze the most usual pharmacokinetic and pharmacodynamic characteristics of TGB, considering current therapeutic indications showing its increased use in seizures and partial epileptic syndromes. We also assess the adverse effects described, with special reference to the results obtained by the Spanish group investigating TGB, in a large number of patients with a wide range of ages. Finally we review the occurrence of status epilepticus induced by using TGB. CONCLUSIONS: It is defined as a gabaergic drug which is well tolerated and causes no visual field reduction. It may be used in epilepsies and epileptic syndromes which can be treated with it.
Animals↗
[Recent aspects of the genetics of epilepsy].
INTRODUCTION: In recent years major advances have been made in localizing the genes responsible for different types of epilepsy. This progress has been determined, amongst other things, by the discovery of diverse genotypes which do not always correspond to the same phenotype, a fact which has opened interesting fields of investigation. However, all these advances make it necessary to restructure the current classification of the epilepsies and epileptic syndromes of the International League Against Epilepsy (ILAE), in which the new syndromes which have now been identified were not contemplated, in spite of having clearly defined characteristics. DEVELOPMENT: The new approach to the genetics of epilepsy and the progress which, no doubt, will be made in the future will lead to a new attitude not only regarding diagnostic protocols, in which it will be necessary to know all the possible variations of the phenotypes of the different syndromes identified, but also the relevant considerations regarding genetic counselling, programmes of treatment and preventive measures which will have to be undertaken. We discuss the genetic aspects of different epileptic disorders, including those classically considered to be of idiopathic origin, to those of symptomatic origin whether due to structural changes in the nervous system or metabolic diseases with epileptic features at some stage of the condition. Five categories are established following these different criteria: 1. Idiopathic generalized epilepsies, 2. Partial epilepsies, 3. Progressive myoclonic epilepsies, 4. Dysgenetic syndromes and chromosome anomalies and 5. Metabolic diseases.
Child, Preschool↗
[Current data on vigabatrin].
OBJECTIVE: We analyze the most usual pharmacokinetic and pharmacodynamic characteristics of vigabatrin, considering the current therapeutic indications which define its greatest usefulness in seizures and partial epileptic syndromes. DEVELOPMENT: At the same time, we assess the adverse effects described with special reference to peripheral changes in the visual field, although their mode of production is still unknown; similarly we describe the relevant hypotheses. We emphasize the usefulness of this drug in some seizures and epileptic syndromes, such as the infantile spasms of West's syndrome. Finally, we emphasize the need to establish an equilibrium between risks and benefits, so that this therapeutic option may still be used in spite of the risks, particularly when other options are not free of serious side-effects, as occurs with the corticosteroids or valproic acid at high doses.
Anticonvulsants↗
[Current data on lamotrigine].
OBJECTIVE: We analyze the most usual characteristics of lamotrigine and review the current antiepileptic indications. Similarly, we consider current hypotheses as to the mode of action during seizures which initially were not considered to be the main indication for use of the drug, as occurs with absence seizures. DEVELOPMENT: We review the adverse effects and emphasize the need to attain the desired dose after a slow, progressive increase in dosage, particularly when it is associated with valproic acid, since this therapeutic combination is very effective in refractory epilepsies. We also mention the favourable effect on the quality of life of the patients treated with this drug and in those in whom an obvious euthymic effect is seen, as well as the benefit observed in patients with mental retardation.
Adult↗
[Diagnostic focus on the child with generalized seizures].
We have carried out an overall analysis of the diagnostic approach to generalized epileptic crises in children. It is emphasized that the clinical history is an essential factor in reaching the correct diagnosis. This is inevitably followed by a general and then a specifically neurological physical examination. Four parameters are considered in order to reach an initial diagnosis: a) The probability of the various types of crises in view of the timing of the clinical features. b) Knowledge of the clinical characteristics of the types of epileptic crises which may occur. c) The interrelation of these two parameters, seeking a specific syndrome which would fit the facts. d) Consideration of the most usual etiological factors of the tentative diagnosis. Subsequently the necessary complementary tests are carried out, but these are always based on rational clinical grounds. The commonest clinical and electroencephalic characteristics of generalized epileptic crises (except for myoclonic crises) are discussed. These are neonatal crises, 'absence', generalized tonic-clonic crisis, generalized crises with predisposing activation mechanisms, West's syndrome and the Lennox-Gastaut syndrome. The diagnostic value of other complementary tests in such crises is considered.
Adolescent↗
[Carpal tunnel syndrome in childhood. A case of early onset].
INTRODUCTION: The carpal tunnel syndrome (CTS) is the commonest neuropathy due to compression to be seen in adults. There are very few cases in the literature referring to patients of paediatric age, particularly those under ten years old. Most of these young patients had a metabolic disorder (mucopolysaccharidosis (MPS) or mucolipidosis (ML). In fact, as many as 90% of the MPS had CTS, sometimes subclinically. This syndrome is caused by compression of the median nerve at the level of the carpal tunnel, to which multiple factors may contribute, both local and systemic, as reviewed in this paper. The clinical findings differ from those in adults, but the appearance of suggestive symptoms and signs should make one suspect the condition and request an electromyographic study (EMG) which would be diagnostic. CLINICAL CASE: We describe the case of a five year old girl, with a clinical history suggesting the presence of a carpal tunnel syndrome for 12 months and characterized by paraesthesia and limitation of flexon-extension movements of the fingers of the affected hand, with pain on movement. The symptoms appeared on waking in the morning, gradually improved as the day advanced and became bilateral over a period of six months. The diagnosis was confirmed by EMG and MR helped to clarify the aetiology. CONCLUSION: The interesting aspect of this article is the youth of the patient, the absence of known etiological factors and the presence of tenosynovitis detected on MR as has been described in some idiopathic/familial forms.
Age Factors↗
[Experience with Health Quality of Life Questionnaire for the epileptic child (CAVE)].
INTRODUCTION: The practical application of a questionnaire designed to evaluate the quality of life of an epileptic child, known as the CAVE test, is described. This is the first scale of its kind. The test consists of 8 parameters: conduct, attendance at school, learning, independence, social relationships, frequency of crises, intensity of crises and parental opinion. Each aspect is given a score, from a minimum of 1 point to a maximum of 5 points. MATERIAL AND METHODS: A total of 203 tests were carried out. 179 of these were considered to be useful. Nine Spanish neuropediatric departments took part in this study. The age limits were from 0 to 14 years old. The best results showed a direct relationship to the children's age, idiopathic etiology and monotherapy as treatment. The quality of life worsened from those with partial simple crises to those with typical absences and generalized tonic-clonic crises. The lowest scores were found in children with infantile spasms and in those with Lennox-Gastaut syndrome. There was a clear statistical relationship between the highest score obtained and the best clinical condition, with regard to the frequency and intensity of crises. Parental opinion was in keeping with the clinical evaluation of the disorder to a certain extent. CONCLUSION: The study is still in progress, so as to interview 1000 children altogether. Then any modifications considered advisable will be made by the multicentre group of the Sociedad Española de Neurología Pediátrica, and may be validated internationally.
Adolescent↗
[Rett's syndrome in the Spanish population].
INTRODUCTION AND OBJECTIVE: Rett syndrome was described in 1966 and became known through the English medical literature in 1983. There are typical and atypical forms. The objective of this study was to record the cases diagnosed in Spain and discover their clinical characteristics in order to describe its phenotype and geographical distribution. PATIENTS AND METHODS: We know of 207 cases and have obtained the records of 168 of these patients. A protocol and data collection programme has been developed giving the criteria for inclusion, and data which support or exclude this. Data collection was by post and the data for identification were the date of birth and the initials of the name and two surnames. With these variables, double-registering of patients was almost impossible. A statistical study with descriptive analysis and a study of continuous and alternating variables was immediately done. RESULTS AND CONCLUSION: The results gave the main characteristics, the differences between typical and atypical cases and a comparative study of variables. It has given clinical data which may be useful for prognosis of the condition in the future.
Adolescent↗
[Neuropediatrics and other pediatric subspecialties: analysis by means of bibliometry].
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Bibliometrics↗
[Infantile neuroaxonal dystrophy. A report of two new cases and a review of the literature published over the past ten years].
INTRODUCTION: The neuroaxonal dystrophies make up a group of neurodegenerative disorders of unknown origin, which are characterized by all showing axonal lesions. The infantile form, or Seitelberger s disease, is one of the forms of earliest onset and rapid progression. The clinical, neurophysiological and pathological criteria described by Aicardi and Castelein in 1979 are still valid. However, we should emphasise the great usefulness of cerebral MR scanning in making an early diagnosis of this condition. CLINICAL CASES: We report two brothers, sons of consanguineous parents, who fulfilled the above clinical criteria. Their illness presented before the age of three years, with arrested psychomotor development followed by regression, an initial hypotonia syndrome which progressed to spastic tetraplegia, optic atrophy and progressive deafness, blindness and dementia. Neurophysiological findings were of central conduction disorders, and chronic denervation was shown on EMG. On EEG there were high frequency, high voltage rhythms. MR scanning showed the cerebral cortex to become atrophied and hyperintense at an early stage. On biopsy of the sural nerve and of skin there was spheroid swelling of the axons with tubulous vesicular material seen in myelinated and nonmyelinated axons. CONCLUSIONS: We reviewed the literature published over the past ten years (1990 2000). From this we conclude that on the initial clinical and neurophysiological criteria of Aicardi and with the aid of current neuroimaging techniques, the diagnosis may be suspected sufficiently early so as to permit genetic counselling. This would help to avoid further, high risk pregnancies, even before the diagnosis had been confirmed by the biopsy findings.
Atrophy↗
[Communication disorders].
INTRODUCTION: This is a round table presentation on disorders of communication. Diagnostic and therapeutic challenges are analyzed. Autism is considered to be an important clinical syndrome in which there may be different degrees of affectation of behaviour, alterations of language and deficit in social interaction. There is therefore a similar phenotype with slight differences probably due to different clinical genotypes in each clinical group. There is obviously genetic heterogeneity. DEVELOPMENT: We consider the most useful diagnostic protocols to establish the differential diagnosis, but always based on essential prior clinical analysis of each case. Finally we study current therapeutic challenges
Autistic Disorder↗
[Nephrolithiasis and topiramate].
INTRODUCTION: Topiramate (TPM) is a new antiepileptic drug whose multiple mechanisms of action justify both its broad therapeutic spectrum and its increasingly widespread use in childhood epilepsy. TPM acts as a carbonic anhydrase inhibitor and, although this does not affect its effectiveness as an antiepileptic, it does account for certain side effects such as nephrolithiasis. The frequency of nephrolithiasis secondary to TPM in childhood is unknown and we have only found reports of five cases in children. CASE REPORTS: We describe two cases of medication-resistant infantile epilepsy--a 3-year-old female with Dravet's syndrome and a male aged 4.5 years with Lennox-Gastaut syndrome. In both cases the decision was made to introduce TPM as add-on therapy after a prolonged therapeutic programme; a high degree of effectiveness was achieved in both patients. Nevertheless, the two patients developed nephrolithiasis secondary to TPM, which in the second case was related to the simultaneous treatment with adrenocorticotropic hormone (ACTH), while no known favouring factor was found in the first patient. CONCLUSIONS: We outline the physiopathogenic mechanism explaining nephrolithiasis secondary to TPM, the risk factors involved and the therapeutic and preventive options available in dealing with this side effect, which occurs in a low percentage of cases but which usually means stopping administration of this therapy. We therefore believe it necessary to analyse the risk factors for nephrolithiasis before prescribing the drug and we suggest that generalised preventive measures should be implemented, especially in children who are carriers of encephalopathies or conditions that reduce mobility.
Anticonvulsants↗
[Effectiveness and safety of levetiracetam in 133 children with medication resistant epileptic seizures].
INTRODUCTION: Levetiracetam (LEV) is the latest drug approved in the European Union for use in polytherapy in children over 4 years of age with partial epileptic seizures that are resistant to other antiepileptic drugs. AIM. To report our experience of associating LEV in children with medication resistant epileptic seizures. PATIENTS AND METHODS: We conducted an open, observational, respective study involving 133 children with refractory epilepsies: 106 with focal seizures and 27 with other types of seizures. LEV was associated over a period of more than 6 months and we evaluated its repercussion on the frequency of the seizures and the side effects related to the drug. RESULTS: With average doses of LEV of 1,192 +/- 749 mg/day the frequency of the seizures was reduced by over 50% in 58.6% of cases and seizures were quelled in 15.8% of patients. Side effects were produced in 27.8% of cases, and were usually transient or tolerable; these effects led to withdrawal of LEV in only eight cases (6.02%). In 37 children (27.8%), their relatives noted an improvement in their social behaviour and cognitive abilities. CONCLUSIONS: a) LEV is an effective drug that is well tolerated in children with refractory epilepsy; b) Its effectiveness in different types of seizures indicates a broad therapeutic spectrum; and c) LEV can even condition favourable secondary effects, a circumstance that has been reported only exceptionally in the case of other antiepileptic drugs.
Adolescent↗
[Pathological complications in 46 cases of neurofibromatosis in children (author's transl)].
Pathological type complications associated with 46 cases of neurofibromatosis in children under 12 are reported. It is noted that in 65.2% of the cases there are mental retardation, usually serious. More than 50% (24 cases) had some type of tumoration. All were benign with the exception of a suprarenal neuroblastoma that caused arterial hypertension and histological characteristics of malignancy. Fifteen tumors were located in the optica ways, one in the mediastinum, one in the abdomen, one in the paravertebral area, one which was a craneal plexiform tumor and four of the moluscum pendulum type on the eyelids or in neighbouring regions. Twelve children suffered from some type of seizures (Salaam's spasms, tonic-clonic, myoclonic, atonic and versive). Radiological abnormalities were very frequent in the simple X rays as well as in those in which contrast medium was used. In four cases malformations of the midline were observed, three of which were non-communicating cysts of the septum pellucidum, the other agenesis of the corpus callosum. Neurofibromatosis was further seen associated iwth Bourneville's syndrome, Morquio's syndrome, Batten's type of lipofuscinosis, facial or generalized hemihypertrophia and stenosis of the aqueduct. Heredity was dominant autosomic in 16 cases, the rest being due to possible recent mutations.
Child↗