[Duplication of the PLP gene and the classical form of Pelizaeus-Merzbacher disease].

Introduction: Pelizaeus-Merzbacher disease (PMD) is a rare form of sudanophilic leukodystrophy which is transmitted by recessive inheritance linked to the X chromosome. It only affects the myelin of the central nervous system (CNS) and is caused by a proteolipid protein (PLP) deficit, which is coded for in Xq21.2-q22.

[Cerebrovascular disease in children with sickle cell anaemia].

Introduction: Cerebrovascular disease (CVD) is one of the most clinically devastating complications in children with sickle cell anaemia (SCA) and an important cause of death in this population.

Aims: To determine the incidence of CVD in children with SCA and to characterise the risk factors and other related clinical and imaging aspects.

Patients And Methods: We conducted a retrospective, cross sectional, descriptive study of paediatric patients with SCA and CVD that covered the period between January 1992 and February 2002.

Nutritional status of mentally retarded children in northwest spain: II. Biochemical indicators.

Aim: To evaluate the nutritional status of mentally retarded children in the region of Galicia, northwest Spain, on the basis of serum biochemistry variables.

Methods: The following serum biochemistry variables were determined in a sample of 128 mentally retarded children (81 boys and 47 girls): albumin, prealbumin, retinol-binding protein, transferrin, ferritin, ceruloplasmin, iron, calcium, phosphorus, copper, total cholesterol, HDL cholesterol, LDL cholesterol, triglycerides, alkaline phosphatase, transaminases and carnitine. A preliminary statistical analysis indicated that most information content could be maintained taking into consideration only five of these variables.

[Botulinum toxin Type A. Indications and results].

Introduction: Since introduction for clinical in the 80s, the botulinum toxin type A is being used with effectiveness in the treatment of different disorders that goes with exaggerated muscular activity. Numerous studies have been demonstrated useful for focal treatment of spasticity.

Patients And Methods: Some indications of the botulinum toxin type A for the treatment of the cerebral palsy are reviewed, emphasizing that it use must be in a global planning.

[Severe myoclonic epilepsy in infancy (Dravet's syndrome). Some genetic aspects].

Aims: The purpose of this study is to survey the data from the literature on the subject of the possible genetic origin of severe myoclonic epilepsy in infancy (SMEI).

Development: SMEI must inevitably be included within the phenotype of febrile seizures, which is made up of febrile seizures, febrile seizures plus, generalized epilepsy with febrile seizures plus, myoclonic astatic epilepsy and SMEI itself. We describe the five gene loci localized in children with febrile seizures (FEB 1 5), the three genes identified in patients with generalized epilepsy with febrile seizures plus (GEFS+ 1 3) and the de novo mutations of gene SCN1A that have been identified to date in children with SMEI.

Nutritional status of mentally retarded children in north-west Spain. I. Anthropometric indicators.

Aim: To evaluate the nutritional status of mentally retarded children in the region of Galicia in north-west Spain, on the basis of anthropometric variables.

Methods: The following variables were determined in a sample of 128 mentally retarded children (81 M, 47 F): birthweight, bodyweight, height/length, head circumference, mid-arm circumference, mid-arm muscle circumference, triceps skinfold thickness, subscapular skinfold thickness, arm area, arm muscle area, arm fat area, arm lean-to-fat ratio, Shukla's nutrition index and Quetelet's body mass index (BMI). A preliminary statistical analysis indicated that most information content could be maintained considering only eight of these variables.

[Gabapentin: its mechanisms of action in the year 2003].

Aims: The purpose of our study was to survey the data from the main research work published about the mechanisms of action of gabapentin.

Development: In addition to an unquestionable Gabaergic effect, gabapentin is the first antiepileptic that has been shown to have an effect on the a2d subunit of the voltage dependent calcium channels and on hyperpolarization activated cationic (Ih) currents. Gabapentin also exerts an indirect effect on the voltage dependent sodium channels, slightly inhibits glutamate and reduces the excretion of certain neurotransmitters, such as serotonin, dopamine and noradrenalin.

[Neurobiological bases of language and its disorders].

Aims: The purpose of this study is to offer an update on the anatomofunctional bases of language and the theories that explain its normal and pathological development.

Method: Language is a clear example of one of the higher functions of the brain, the development of which is carried out, on the one hand, in a genetically determined anatomofunctional structure and, on the other hand, by the verbal stimulus provided by the environment. Several systems and subsystems are at play within the anatomofunctional structure and these operate in series and in parallel.

[Lumbar puncture and early neuroimaging in complex febrile seizures. Report of a case of shaken infant syndrome].

Introduction: Febrile convulsions are one of the most frequent pathologies seen in paediatric emergencies. The diagnosis of febrile seizures is clinico evolutionary and is easily established once the acute process is overcome and a normal state is restored in the child. The differential diagnosis is established with the processes that associate fever and convulsions in children between the ages of 1 month and 6 years, many of which require specific treatment.

[Unilateral isolated paralysis of the soft palate: a case report and a review of the literature].

Introduction: Unilateral isolated paralysis of the soft palate is a rare clinical entity.

Case Report: We describe the case of a 12 year old girl who presented acute dysphagia, a nasal voice and regurgitation of liquids into the nose. Exploration revealed right velopalatine insufficiency with normal gag reflex and pharyngeal sensitivity.

[Advances in physiopathology and the treatment of neuropathic pain].

Aims: In this paper we review the most significant studies on the treatment of neuropathic pain over the last few decades, as well as the most recent research work in which the physiopathological mechanisms of pain, with the intention of looking for evidence based criteria that can help us to choose the most appropriate treatment.

Method: The physiopathological bases of neuropathic pain are founded, peripherally, on alterations in the neuronal excitability mediated by voltage dependent sodium channels; from the central point of view, the chief neurotransmitter involved is glutamate, which allows calcium to enter through the N-methyl D-aspartate receptor and conditions a more prolonged depolarisation and the activation of secondary messengers. This determines the chronification of the pain.

[Childhood headache. A diagnostic approach].

Headaches are common during childhood and become more frequent in adolescence. The rational, cost-effective evaluation of children with headache begins with a careful history. The first step is to identify the temporal pattern of the headache -acute, acute-recurrent, chronic-progressive, chronic-nonprogressive, or mixed.

[Neuronal plasticity and the scientific bases of neurohabilitation].

Introduction: The validity of methods of neurological habilitation and rehabilitation has long been questioned by a large proportion of the medical profession. This sceptical attitude was partly due to lack of scientific confirmation of the theories on which methods of habilitation-rehabilitation were based, and the absence of reliable studies of the follow-up of such treatment, designed on strict statistical criteria.

Development: Advances in recent years in understanding neuronal plasticity have permitted better understanding of the mechanisms which come into action following brain damage and the factors which help or hinder recovery, and the various possible patterns involved in the reorganization of neuronal circuits.

[Comorbid disorders associated with tics].

Introduction: Tics are the most frequent abnormal movements in children. This is one reason for their importance. Another reason is their relationship to fascinating disturbances of human behaviour such as compulsion and obsessions.

[Clinical forms of infantile dysphasias].

By 'Dysphasias' we mean disorders of language development in children, as opposed to Aphasias which is the term used for loss of previously acquired language as a consequence of focal cerebral lesions. The definition of Dysphasia refers to alteration in the expression or comprehension of language which cannot be explained by deafness, motor deficit, mental retardation, brain damage, emotional disorders or insufficient exposure to language (DSM IV). Even within this definition there is room for different criteria for inclusion.

[The course of behaviour changes in children with attention deficit and hyperactivity after drug treatment].

Introduction: Several studies have reported differences in behaviour in patients with various subtypes of attention deficit with hyperactivity and the benefits of psychostimulant medication in the treatment of behaviour problems of patients with the attention deficit hyperactivity syndrome (TDAH).

Objectives: 1. To determine possible differences in behaviour between patients with subtypes of the attention deficit hyperactivity disorder; 2.

[The pharmacological approach to the autistic spectrum].

Objective: To describe our experience of the drug treatment of children within the autistic spectrum.

Development: We analyze some neuroleptic drugs, the serotonin uptake inhibitors and antiepileptic drugs, emphasizing the most suitable drugs for each symptom we wish to treat and how to do so.

Conclusions: The treatment of children within the autistic spectrum should be specific, meticulous and well controlled by the neuropaediatrician.

[Neuropsychological changes in coeliac disease].

Objective: Coeliac disease is a gastrointestinal disorder caused by intolerance to cereals due to an immunological mechanism. The intestinal mucosa is damaged, causing a severe malabsorption syndrome. The diagnosis is based on classical clinical features such as diarrhoea and weight loss.

[The contribution of neuropsychology to the diagnosis and treatment of learning disorders].

Introduction: In its broadest sense, the basic concept of Neuropsychology is that all behaviour originates in the brain; according to Luria, it depends on functional systems constituted by different areas of the brain which are inter related. Each area deals with a particular function which is part of the whole (for example, the cortical area for vision deals with reading). Which cortical areas make up the functional system depends on how the person acquired a certain type of behaviour.

[Characteristics and indications of levetiracetam].

Objective: To describe the data contained in the most important studies published on the pharmacokinetic and pharmacodynamic properties of levetiracetam, and also the main clinical trials carried out using this new antiepileptic drug.

Development: Derived from piracetam, but with very different properties, levetiracetam is ineffective in the usual models of seizures induced in experimental animals, although it acts in models of prolonged activation, audiogenous seizures and absences and has a novel mode of action. It has pharmacokinetic properties which are nearer to that of the ideal anti epileptic drug.

[Characteristics and indications of topiramate].

Aim: To evaluate the efficiency of topiramate (TPM), an antiepileptic medication (AEM) which possesses multiple mechanisms of action and good pharmacokinetics, in the different types of childhood epilepsy and to make an appraisal of its value in migraines, bipolar disorder, eating disorders and neuropathic pain, according to studies that have been published. To do so, we have made use of an analysis of the literature, together with a multi centre study conducted in Spain and personal casuistry.

Method: We consider the percentage of seizure free patients and of patients who responded (reduction of 50% or above in the frequency of the seizures) in childhood epilepsy, partial epilepsy, generalized tonic clonic seizures, absence seizures, tonic seizures, patients with diverse types of seizures, juvenile myoclonic epilepsy, Lennox Gastaut syndrome, falling sickness and GTCS, West s syndrome and Dravet s syndrome.

[Recent aspects of acute and chronic inflammatory polyneuropathies: Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy].

Introduction: In last decade many advances have occurred in knowledge of pathogenic, in the different types of clinic expression and in the therapy of both acute and chronic polyneuritis.

Objective: To review the recent advances in the childhood expression of these disorders.

Development And Conclusions: Into the broad term of Guillain-Barré syndrome (GBS) several types are considered: demyelinating, motor sensory axonal and motor axonal, and the Miller Fisher syndrome (MFS).

[Subdural empyema secondary to sinusitis: four pediatric cases].

Introduction: Perinasal sinus infections is a common and benign condition in most pediatric cases. Because of the widespread use of antibiotics, intracranial extension of sinusitis is rarely seen today. Nevertheless, the clinician must be aware of the gravity of this condition, because late recognition and delay in treatment can increase mortality and morbidity.