[Partial duplication of chromosome 4q (q31, q35): Auriculo-acro-renal syndrome].

The partial trisomy 4q is a strange chromosomal illness. This illness is caused by the duplication of a portion of chromosome 4. In most of the cases, it is the result of a balanced translocation in one of the progenitors.

[Autism, epilepsy and genetics].

Introduction: The rate of epilepsy in autism is higher than in other developmental disorders and estimates point to a frequency range of between 7% and 42%. Between 40% and 47% of autistic children suffer from clinical epilepsy. Onset of epilepsy may occur at any age.

[Girls with fragile X syndrome: a model for specific developmental disorders].

Introduction And Development: The prevalence of specific developmental disorders (SDD) in everyday practice is high, and an interdisciplinary approach is required for their diagnosis and management. The ultimate pathophysiology of these disorders remains a great challenge to researchers and progress is limited by the fact that there are no experimental models that reproduce the cognitive-behavioural complexity of the human being.

Conclusions: Girls with fragile X syndrome, which has a wide range of cognitive-behavioural signs and symptoms that allow the clinical features of SDD to coincide in the same person, in whom the intellectual quotient is preserved and for whom our present knowledge of the syndrome does offer pathophysiological structural bases in the central nervous system, may constitute a valuable model to help us understand SDD.

Evolution of subclinical hypothyroidism in children treated with antiepileptic drugs.

The concentration levels of serum free thyroxine, serum free triiodothyronine, and thyroid-stimulating hormone were measured in 20 children receiving carbamazepine, 32 children receiving valproic acid, and 5 children receiving phenobarbital at the following times: (1) during chronic treatment, and (2) 3 months after the end of treatment with antiepileptic drugs. Patients during chronic treatment revealed significant changes in serum thyroid hormones, especially the children treated with carbamazepine and valproic acid. A number of children receiving long-term therapy with the two last antiepileptic drugs had varying grades of subclinical hypothyroidism.

[Epilepsy in children in Navarre].

Background: To estimate the annual incidence rate of epilepsy, as well as the relative distribution of the different epilepsies and epileptic syndromes in children.

Material And Methods: All incident cases of children living in Navarre below 15 years of age with a newly diagnosed epilepsy (years 2003 through 2005) have been registered in a prospective study. Epidemiological and clinical data and complementary studies were collected.

[Incidence of epilepsy in 0-15 year-olds].

Objective: To calculate the annual incidence rate of epilepsy, as well as the relative distribution of the different forms of epilepsy and epileptic syndromes in infants and children.

Patients And Methods: All incident cases in infants and children aged less than 15 years living in Navarre (Spain) with newly diagnosed epilepsy (2002 to 2005) were prospectively registered. Epidemiological and clinical data and the results of complementary investigations were recorded.

3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome in 2 siblings.

The authors report the case of a pair of siblings with 3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome. Disease progression was monitored from birth until the present. Both patients fulfilled the diagnostic criteria for Leigh syndrome along with increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid (biochemical markers of methylglutaric acid) in several determinations.

Muscle myostatin expression in children with muscle diseases.

The demonstration that myostatin may negatively regulate muscle mass in adult individuals has raised the possibility of targeting the myostatin pathway to increase muscle growth in a variety of muscle-degenerative and -wasting conditions. To gain further insight into the possible role of myostatin in primary muscle diseases, the authors investigated the expression of muscle myostatin in children with congenital fiber type 1 disproportion, in others with neurogenic muscular atrophy, in others with myotonia congenita, in others with infantile glycogenosis type II, in others with Prader-Willi syndrome, and in 4 age-matched controls. No differences in the pattern of myostatin expression were found in any case, even in those patients with prominent muscular atrophy or hypertrophy.

[A descriptive study of childhood epilepsy].

Aim: To analyse the epidemiological characteristics and the relative distribution of the different types of epilepsy and epileptic syndromes in the childhood population.

Patients And Methods: We reviewed the medical histories of 365 patients (192 males and 173 females) with epilepsy. Epidemiological and clinical data were collected, together with information from complementary examinations.

[Hepatomioneuropathy secondary to mitochondrial DNA depletion].

Introduction: Mitochondrial DNA depletion (mtDNA) is an highly heterogeneous condition characterized by a decreased number of mtDNA copies.

Case Report: The patient is a 22-month-old girl with generalized hypotonia, marked weakness, respiratory failure, arterial hypertension, hyperlactacidemia, hepatosplenomegaly and mild hypertransaminasemia without hepatic failure neither hypoketotic hypoglycemia. Electromyographic findings were consistent with neuromyopathy and muscle biopsy suggested a neurogenic atrophy.

[Pontocerebellar hypoplasia type 1: a case report].

Introduction: Pontocerebellar hypoplasias constitute a group of hereditary neurodegenerative disorders of uncertain aetiopathogenesis. They have been reported as being associated with deficiencies of complexes in the mitochondrial respiratory chain (MRC) and with congenital disorders of glycosylation. On the basis of clinical and neuropathological criteria, two phenotypes can be distinguished in this condition.

[Dyggve-Melchior-Clausen syndrome, diagnostic difficulty due to it similarity to Morquio disease].

Introduction: Dyggve-Melchior-Clausen syndrome (DMCS) is a rare autosomal recessive disorder produced by mutations in the Dymeclin gene recently identified. It is characterized by the association of a progressive spondylo-epi-metaphyseal dysplasia and mental retardation ranging from mild to severe. The clinical and radiological similarities at the onset of the condition with the Morquio disease may hinder its diagnosis and no biochemical abnormality that causes it has been described as of yet.

[Epilepsy and epileptic syndromes among primary school children (6-12 years)].

Objective: To analyze the epidemiological characteristics and proportional distribution of epilepsy and epileptic syndromes among primary school children.

Patients And Methods: The medical records of all children diagnosed with epilepsy between the ages of 6 and 12 years who attended a follow-up visit in 2005 were retrospectively reviewed. The sample consisted of 169 patients (85 boys and 84 girls).

[Estimation of the prevalence of attention deficit hyperactivity disorder among the standard population on the island of Majorca].

Aim: To determine the rate of prevalence of attention-deficit/ hyperactivity disorder (ADHD) in children of school age (6-11 years) in the Island of Mallorca.

Subjects And Methods: The epidemiological study was conducted using a community sample extracted by means of multi-stage stratified sampling according to areas (rural, city and touristy) and schooling (public, private and concerted) and consisted in 1,509 children of both sexes. The ADHD Rating Scales-IV (ADHD RS-IV) for home and school setting were used to collect data.

[Non-progressive congenital ataxias].

Introduction: Non-progressive congenital ataxias (NPCA) constitute a heterogeneous group of processes linked to diverse aetiological factors that can be either environmentally or genetically determined. The signs of cerebellar compromise, which are preceded by unspecific signs such as early hypotonia, difficulty in sucking or chewing or retarded motor acquisition, become apparent with development or may remain absent when the disorder is very severe.

Development: NPCA can be accompanied by a number of pathologies and their diagnosis can be made easier by the concurrence of symptoms or signs of extra-cerebellar involvement, such as dysmorphic features or abnormalities affecting the skin, heart, bones, blood, eyes or other areas of the central or peripheral nervous system.

Treatment of mitochondrial encephalomyopathies with a xanthine oxidase inhibitor.

Five females with mitochondrial encephalomyopathies were treated for 3 to 7 years with a xanthine oxidase inhibitor (allopurinol, oral route, 20 mg/kg/day, in 2 or 3 doses daily). Clinical course was monitored in all patients. In addition, various metabolic variables, namely blood lactic acid, blood adenosine triphosphate, adenosine diphosphate, and adenosine monophosphate were monitored, as well as energy charge.

[Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene].

Introduction: Pyruvate dehydrogenase (PDH) deficiency constitutes the most frequent metabolic origin of congenital lactic acidosis and is also responsible for a less usual form, found exclusively in females, which leads to a dysmorphic syndrome accompanied by severe cerebral malformations. The most common defect affects fraction E1alpha (gene Xp22.1-22.

[Migraine in childhood: a trivial condition?].

Introduction: Migraine is seen as being a trivial disease, and more so in childhood, but in many cases it has a detrimental effect on the patient's quality of life.

Patients And Methods: Prospective study. All the patients were evaluated by the same neuropaediatrician and all of them satisfied diagnostic criteria for migraine.

Myostatin expression in muscular dystrophies and mitochondrial encephalomyopathies.

The demonstration that myostatin may negatively regulate muscle mass in adult individuals has raised the possibility of targeting the myostatin pathway in order to increase muscle growth in a variety of muscle degenerative and wasting conditions. In this regard, blockade of endogenous myostatin results in anatomic, biochemical, and physiologic improvement in the dystrophic phenotype in the mdx mouse. Moreover, myostatin messenger ribonucleic acid levels are decreased in the regenerated muscle of these mice, suggesting that myostatin may also be involved in the pathogenesis of the disease.

[Attention deficit hyperactivity disorder and mental retardation].

Introduction: Attention deficit hyperactivity disorder (ADHD) is a common condition in children with mental retardation (MR), with a prevalence rate of between 4 and 15%. It is therefore necessary to examine the epidemiological characteristics of neurodevelopmental disorders in patients with MR, evaluate diagnostic protocols and especially update the pharmacological treatment of ADHD in children with MR.

Development: The study of ADHD in patients with mild mental retardation is no different to that carried out in children without MR.

[A comparative study of pragmatic language disorders and autism spectrum disorders using magnetoencephalography].

Introduction: Pragmatics refers to the social use of language; its precursors are already present during the process of maturing, during the preverbal stage, and become manifest when the child starts to point and to share his or her attention with another person. In cases of specific language impairment (SLI) and autism spectrum disorders (ASD) it can be altered to varying degrees.

Patients And Methods: Due to the difficulties involved in diagnosis from a clinical point of view, we carried out a study by means of magnetoencephalography (MEG) on a series of 11 patients who had SLI and another series of 9 patients with ASD, in order to determine whether MEG is capable of distinguishing these diagnoses.

Evolution of serum lipids and lipoprotein (a) levels in epileptic children treated with carbamazepine, valproic acid, and phenobarbital.

The concentration levels of serum lipids and lipoprotein (a) were measured in 20 children receiving carbamazepine, 25 children receiving valproic acid, and 5 children receiving phenobarbital at the following times: (1) during chronic treatment while eating a normal diet, (2) during chronic treatment while eating a low-fat diet (children treated with carbamazepine and phenobarbital with high levels of total cholesterol, high-density lipoprotein cholesterol, and low-density lipoprotein cholesterol), and (3) 3 months after the end of treatment with antiepileptic drugs. Patients during chronic treatment and eating a normal diet revealed significant changes in lipids, but when we reevaluated the groups of children treated with carbamazepine and phenobarbital when they were eating a low-fat diet and reevaluated the three groups of children 3 months after the end of treatment, a complete return to normal of all parameters was observed. These data demonstrate that the changes induced by these drugs are transient, reversible, and influenced by a low-fat diet.

[Typical absence seizure: epidemiological and clinical characteristics and outcome].

Objective: To analyze the epidemiological and clinical characteristics and outcome of absence epilepsy in the pediatric age group with the aim of facilitating its diagnosis in clinical practice.

Patients And Methods: Information on epidemiological and clinical characteristics, complementary investigations, and outcome was collected from the medical records of 51 children with absence epilepsy. The criteria defined by the International League Against Epilepsy (ILAE) were used in the diagnosis.

Epidemiology of pediatric mitochondrial respiratory chain disorders in northwest Spain.

Our knowledge of mitochondrial respiratory chain diseases has increased dramatically in recent years, but relatively little information is available about their prevalence and incidence, either in pediatric or adult patients. This study reports incidence and prevalence estimates, and summarizes the clinical, biochemical, histologic, and genetic characteristics of 51 patients age 0-16 years. The overall annual incidence of all mitochondrial respiratory chain diseases was estimated to be 1.