RESUMO
INTRODUCTION: Drug-resistant epilepsy (DRE) is a top-priority social health problem which requires early individual treatment due to its dramatic repercussions for the patient and society. DEVELOPMENT: The International League Against Epilepsy (ILAE) has recently defined DRE as that in which the seizures are not controlled after having correctly taken two appropriate and well tolerated anti-epileptic drugs, with lack of control being understood as the appearance of seizures within one year or in a period less than three times the inter-seizure interval before starting treatment. This International Society recommends a rapid and detailed assessment of all patients in an Epilepsy Unit. A Clinical Epilepsy Unit (CEU) is understood as a group of professionals who, acting in collaboration, have the diagnosis and treatment of the patient with epilepsy as their primary objective. CEUs in Spain may be stratified into different levels depending on the activity carried out in each of them. The specific epilepsy clinic is considered the fundamental type of CEU and includes the necessary figure of an expert in epilepsy. Prolonged video-monitoring is performed in medical CEUs. In medical-surgical CEUs epilepsy surgery with varying degrees of difficulty is also performed. CONCLUSIONS: All CEUs must cooperate with consensus protocols, and there must be a two-way flow between them. Stratification of CEUs increases efficacy and efficiency, due to there being a sufficient number of them to ensure easy access by all patients with epilepsy.
Assuntos
Epilepsia/diagnóstico , Epilepsia/terapia , Anticonvulsivantes/efeitos adversos , Anticonvulsivantes/uso terapêutico , Resistência a Medicamentos , Necessidades e Demandas de Serviços de Saúde , Unidades Hospitalares , Humanos , Espanha , Terminologia como AssuntoRESUMO
OBJECTIVE: To ascertain the opinions of an Epilepsy Expert Group and prepare a consensus document on the definition of drug-resistant epilepsy (DRE) according to the International League Against Epilepsy (ILAE) and the different healthcare levels for the patient with epilepsy in Spain. MATERIAL AND METHODS: The study was conducted using the Delphi method, by means of successive rounds of questionnaires. A scientific committee prepared a preliminary document and fourteen associated questions, which were sent by e-mail to the panel of experts. They included items related to the concept of DRE, health care levels and the route between these levels for patients with DRE. RESULTS: A total of 41 experts answered the questionnaire. They agreed regarding the necessity and applicability of the DRE definition according to the ILAE, the need for an expert panel on epilepsy, specialist epilepsy clinics, and clinical epilepsy units stratified depending on the level of activities they carried out. There was moderate consensus on the resources and activity of the clinical units of reference and there was no consensus on the referral of patients who have suffered an epileptic seizure to an epilepsy clinic. CONCLUSIONS: The expert panel agreed with the definition of DRE according to the ILAE and on referring patients with DRE for a detailed study in an epilepsy clinic or epilepsy clinical unit. They highlighted the need for video-EEG monitoring in the study of patients with DRE and the need to propose other forms of treatment in selected patients.
Assuntos
Epilepsia/diagnóstico , Epilepsia/terapia , Protocolos Clínicos , Consenso , Técnica Delphi , Resistência a Medicamentos , Eletroencefalografia , Epilepsia/tratamento farmacológico , Pesquisas sobre Atenção à Saúde , Humanos , EspanhaRESUMO
INTRODUCTION: Benign epilepsy with central-temporal spikes (BECTS) is the most common epileptic syndrome in childhood. It is an age-dependent, genetically determined and benign condition. The aim of this study is to describe the clinical course and prognosis in 60 patients with BECTS diagnosed in our hospital. PATIENTS AND METHODS: We made a retrospective review of patients diagnosed with BECTS in a University Hospital (1995-2009). They were divided into 2 groups: 1) Patients who met all BECTS classical criteria. 2) Patients who met all the criteria but one (less than 4 years; diurnal seizures; atypical EEG abnormalities). RESULTS: A total of 60 patients, 34 males and 26 females were included, with 31 patients in group 1 and 29 in group 2. The mean age at onset in group 1: 7.45 years, group 2: 6.55 years. Medical treatment was indicated in 32.2% of patients in group 1 and 41.3% in group 2. The outcome was favourable in the majority: 58% in group 1 and 62.1% in group 2 were free of seizures after 1 year. Average age in which it disappeared: 8.54 years in group 1 and 7.84 years in group 2. There were no statistically significant differences in any of these parameters. CONCLUSIONS: Unlike that published by some authors, we have not identified any poor outcome factors in patients with BECTS in this study, meaning that an accurate diagnosis correlates with a good prognosis and excellent neurological outcome.
Assuntos
Epilepsia Rolândica/terapia , Idade de Início , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia Rolândica/tratamento farmacológico , Feminino , Hospitais Universitários , Humanos , Masculino , Prognóstico , Estudos Retrospectivos , Resultado do TratamentoRESUMO
INTRODUCTION: Childhood absence epilepsy (CAE) is considered easily manageable with medication provided that a strict patient classification system is employed. It accounts for 10% of all childhood epilepsy cases starting before the age of 15 and it is most frequent in school-aged girls. The aim of this study is to analyse long-term outcomes of patients diagnosed with CAE according to the Loiseau and Panayiotopoulos criteria and treated during childhood. METHODS: We conducted a retrospective study including 69 patients with CAE who are currently older than 11; data were gathered from medical histories, EEG records, and telephone questionnaires. RESULTS: 52 patients met the Loiseau and Panayiotopoulos criteria. Mean age is now 17.16 years. Female-to-male ratio was 1.65:1; mean age at onset was 6 years and 2 months; mean duration of treatment was 3 years and 9 months. A family history of epilepsy was present in 30.8% of the patients and 7.7% had a personal history of febrile convulsions. Absence seizures were simple in 73.5% of the patients and complex in 26.5%. Response rates to first-line treatment were as follows: valproic acid, 46.3%; and valproic acid plus ethosuximide, 90.9%. The rate of response to second-line therapy (ethosuximide or lamotrigine) was 84.2%; 4% of the patients experienced further seizures after treatment discontinuation, 78.8% achieved seizure remission, and 25% needed psychological and academic support. CONCLUSIONS: Our data show that epileptic patients should be classified according to strict diagnostic criteria since patients with true CAE have an excellent prognosis. The relapse rate was very low in our sample. Despite the favourable prognosis, psychological and academic support is usually necessary.
Assuntos
Epilepsia Tipo Ausência/diagnóstico , Adolescente , Anticonvulsivantes/uso terapêutico , Criança , Progressão da Doença , Epilepsia Tipo Ausência/tratamento farmacológico , Etossuximida/uso terapêutico , Feminino , Humanos , Masculino , Prognóstico , Estudos Retrospectivos , Resultado do Tratamento , Ácido Valproico/uso terapêuticoRESUMO
Paediatric care of a chronic process is limited by the moment when the clinical and therapeutic follow-up must be continued by a specialist from the area for adults. The delay in the transition from paediatrics to adult medicine can be due to causes attributable to the patient or his/her relatives, or the professional who diagnosed the disease. The former arises from the uncertainty of facing the unknown, which becomes more intense when the diagnosis and treatment have been difficult, as there is a fear of upsetting the stability of the patient. The latter concerns the paediatric specialist, who created ties of dependence with the patient due to the difficulties involved in the process, and perhaps even owing to a wish to avoid playing a less important role in it. Delaying the transition gives rise to problems that are detrimental for the child, because after adolescence there will still be a harmful dependence on the family and the paediatrician, which will delay the necessary knowledge of their own illness and of the limitations that can condition them. As a result this can prevent them from developing mechanisms for coming to terms with the reality of their own life situation. Later on, when it comes to taking the necessary step into adult medicine, immaturity appears, which increases the difficulties due to a lack of knowledge of both the disease and the tell-tale signs of alarm, revealing insecurity in the different situations that arise. The problem can be solved by a slow progressive change which must be coordinated in mixed outpatient departments with the presence of specialists for both paediatric and adult patients. This publication offers an analysis of this problem and a review of the solutions recommended to implement them in the best possible way.
TITLE: Transicion de la epilepsia del niño al adulto. Dificultades en un objetivo no demorable.La atencion pediatrica de un proceso cronico se ve limitada por el momento a partir del cual el seguimiento clinico y terapeutico debe continuarlo el especialista del area con dedicacion al adulto. El retraso de la transicion de la pediatria a la medicina del adulto puede originarse por causas familiares o del paciente, o bien por el profesional que diagnostico la enfermedad. La primera emana de la incertidumbre ante lo desconocido, mas intensa cuanto mayor ha sido la dificultad diagnostica y terapeutica, al temer que el paciente se desestabilice. La segunda atañe al especialista pediatrico, que creo lazos de dependencia con el paciente por las dificultades del proceso, e incluso por el deseo de no perder protagonismo en el mismo. Demorar la transicion genera problemas perjudiciales para el niño, pues superada la adolescencia mantendra una nociva dependencia familiar y del pediatra, retrasando el necesario conocimiento de la propia enfermedad y de las limitaciones que pueden condicionarle, e impidiendole desarrollar mecanismos para enfrentarse a su realidad vital. Mas adelante, cuando llega el necesario paso a la medicina del adulto, aflora la inmadurez, que incrementa las dificultades por desconocer tanto la enfermedad como los signos de alarma, revelando inseguridad en las situaciones que vayan apareciendo. El problema se soluciona con un cambio lento y progresivo, que debe coordinarse en consultas mixtas atendidas por especialistas pediatricos y de adultos. En esta publicacion se analiza esta problematica y se revisan las soluciones aconsejadas para su mejor desarrollo.
Assuntos
Epilepsia/terapia , Transição para Assistência do Adulto , Adulto , Criança , Humanos , Fatores de Tempo , Transição para Assistência do Adulto/organização & administração , Transição para Assistência do Adulto/normasRESUMO
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.
Assuntos
Anticonvulsivantes , Epilepsia/tratamento farmacológico , Frutose/análogos & derivados , Cálculos Urinários/induzido quimicamente , Anticonvulsivantes/efeitos adversos , Anticonvulsivantes/uso terapêutico , Pré-Escolar , Feminino , Frutose/efeitos adversos , Frutose/uso terapêutico , Humanos , Masculino , Topiramato , Cálculos Urinários/patologiaRESUMO
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.
Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Piracetam/análogos & derivados , Adolescente , Criança , Pré-Escolar , Resistência a Medicamentos , Feminino , Humanos , Levetiracetam , Masculino , Piracetam/uso terapêutico , Estudos RetrospectivosRESUMO
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.
Assuntos
Epilepsia/genética , Pré-Escolar , Diagnóstico Diferencial , Epilepsia/diagnóstico , Humanos , Lactente , Recém-NascidoRESUMO
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.
Assuntos
Anticonvulsivantes/efeitos adversos , Epilepsia/tratamento farmacológico , Vigabatrina/efeitos adversos , Humanos , Campos Visuais/efeitos dos fármacosRESUMO
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.
Assuntos
Anticonvulsivantes/efeitos adversos , Epilepsia/tratamento farmacológico , Triazinas/efeitos adversos , Adulto , Idoso , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Lamotrigina , Pessoa de Meia-Idade , Qualidade de VidaRESUMO
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.
Assuntos
Epilepsia , Qualidade de Vida , Adolescente , Fatores Etários , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Masculino , Índice de Gravidade de Doença , Inquéritos e QuestionáriosRESUMO
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
Assuntos
Transtorno Autístico , Transtornos da Comunicação , Transtorno Autístico/diagnóstico , Transtorno Autístico/fisiopatologia , Transtorno Autístico/terapia , Transtornos da Comunicação/diagnóstico , Transtornos da Comunicação/fisiopatologia , Transtornos da Comunicação/terapia , Diagnóstico Diferencial , HumanosRESUMO
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.
Assuntos
Epilepsia Generalizada/diagnóstico , Convulsões/diagnóstico , Adolescente , Adulto , Fatores Etários , Encefalopatias/complicações , Encefalopatias/diagnóstico , Criança , Pré-Escolar , Diagnóstico Diferencial , Testes Diagnósticos de Rotina , Eletroencefalografia , Epilepsias Parciais/diagnóstico , Epilepsia Tipo Ausência/diagnóstico , Epilepsia Generalizada/classificação , Epilepsia Generalizada/etiologia , Epilepsia Tônico-Clônica/diagnóstico , Humanos , Lactente , Recém-Nascido , Erros Inatos do Metabolismo/complicações , Erros Inatos do Metabolismo/diagnóstico , Convulsões/etiologia , Espasmos Infantis/diagnóstico , SíndromeRESUMO
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.
Assuntos
Anticonvulsivantes/farmacocinética , Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Ácidos Nipecóticos/farmacocinética , Ácidos Nipecóticos/uso terapêutico , Animais , Anticonvulsivantes/efeitos adversos , Interações Medicamentosas , Humanos , Estrutura Molecular , Neurônios/metabolismo , Ácidos Nipecóticos/efeitos adversos , Tiagabina , Ácido gama-Aminobutírico/metabolismoRESUMO
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.
Assuntos
Encéfalo/patologia , Distrofias Neuroaxonais/patologia , Atrofia/patologia , Cerebelo/patologia , Eletroencefalografia , Eletromiografia , Epilepsia Generalizada/diagnóstico , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Índice de Gravidade de DoençaRESUMO
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.
Assuntos
Transtornos Cognitivos/fisiopatologia , Eletroencefalografia , Epilepsia do Lobo Frontal/fisiopatologia , Transtornos Psicomotores/fisiopatologia , Tempo de Reação , Criança , Pré-Escolar , Transtornos Cognitivos/diagnóstico , Diagnóstico Diferencial , Epilepsia do Lobo Frontal/diagnóstico , Epilepsia do Lobo Frontal/genética , Feminino , Humanos , Masculino , Testes Neuropsicológicos , Transtornos Psicomotores/diagnóstico , Gravação de VideoteipeRESUMO
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.
Assuntos
Síndrome do Túnel Carpal/diagnóstico , Fatores Etários , Criança , Diagnóstico Diferencial , Eletromiografia , Feminino , Humanos , Imageamento por Ressonância Magnética , Tenossinovite/diagnóstico , Punho/inervaçãoRESUMO
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.
Assuntos
Síndrome de Rett/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Espanha/epidemiologiaRESUMO
INTRODUCTION: Neurocysticercosis is the most frequent parasitic disease affecting the central nervous system. It is a disease that is endemic to certain countries in South America. The phenomenon of immigration, however, has increased its prevalence in developed regions due to the arrival of immigrants from endemic areas. AIM: To present the clinical and demographic characteristics of the cases of neurocysticercosis attended in a tertiary care hospital in the city of Murcia. PATIENTS AND METHODS: We conducted a descriptive, retrospective study by reviewing the medical records of patients with a hospital diagnosis of neurocysticercosis over a nine-year period (1997-2005). Demographic and clinical data on these patients were collected. RESULTS: Twenty-three patients (three under 12 years of age) were found. Mean age: 29.6 years. Countries of origin: Ecuador and Bolivia. The most frequently observed clinical manifestations were: epileptic seizures (73.9%), headache (39.1%) and neurological focus (26.1%). Albendazole was employed in 91.3% of cases and corticoids in 73.9%. The most frequently used drug in patients who received antiepileptic therapy was phenytoin. Four patients required surgical treatment. During the follow-up period, 52.8% of the patients were asymptomatic. CONCLUSIONS: Neurocysticercosis is a disease that is becoming increasingly more prevalent in Spain and we should suspect its presence in patients from endemic areas who visit because of clinical symptoms involving the central nervous system.