Prevalence of sleep disorders in patients with neurofibromatosis type 1.

Introduction: Neurofibromatosis type 1 (NF1) is frequently associated with neurological disorders unrelated to neurofibromas, including sleep disorders.

Objectives: This article reviews the prevalence of sleep disorders in patients with NF1, compares rates to data reported in the literature, and analyses the relationship between cognitive disorder and attention deficit hyperactivity disorder (ADHD) in these patients.

Material And Methods: Comparative retrospective study reviewing data collected between January 2010 and January 2012 from patients diagnosed with NF1 in a tertiary hospital.

Treatment of refractory epilepsy with the modified Atkins diet.

The modified Atkins diet (MAD) is an alternative therapeutic diet for the treatment of drug-resistant epilepsy. It consists of a diet with 60% energy from fat, 30% from protein, and 10% from carbohydrates. The objective of this article is to present a series of nine patients diagnosed with refractory epilepsy of different etiologies treated with the MAD at our hospital.

[Influence of medical and neuropsychiatric comorbidities on the course of childhood epilepsy].

Introduction: Comorbidity has a significant influence in the management of patients with epilepsy.

Material And Methods: A descriptive study of all patients with epilepsy, from a suburban area in the Community of Madrid followed up for at least 1 year. Children under 2 years, those with symptomatic acute febrile seizures were excluded.

Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement.

Complex chromosome rearrangements (CCRs) are extremely rare in humans. About 20% of the apparently balanced CCRs have an abnormal phenotype and the degree of severity correlates with a higher number of breakpoints. Several studies using FISH and microarray technologies have shown that deletions in the breakpoints are common although duplications, insertions and inversions have also been detected.

Differential responses of two related neurosteroids to methylphenidate based on ADHD subtype and the presence of depressive symptomatology.

Rationale: Attention deficit with hyperactivity disorder is a neurodevelopmental disorder associated with alterations in the prefrontal cortex via dopaminergic and noradrenergic neurotransmission. Neurosteroids (e.g.

[Management of prolonged convulsive seizures in the community: results of the PERFECT™ study in Spain].

Introduction: The Practices in Emergency and Rescue medication For Epilepsy managed with Community administered Therapy (PERFECT™) Initiative was set up in 2011 to gain a better understanding of how prolonged convulsive seizures are managed, and rescue medication is administered, in out-of-hospital settings across Europe. This paper explores the initial research findings for Spain.

Material And Methods: A review was made of existing clinical guidelines, guidance to schools, and relevant policy and legal frameworks, as well as a survey of 20 healthcare professionals who treat children with prolonged convulsive seizures in Spain.

Prenatal diagnosis of frontonasal dysplasia associated with bilateral periventricular nodular heterotopia.

Frontonasal dysplasia is an etiologically heterogeneous development alteration including a set of anomalies affecting the eyes, forehead, and nose as a result of a malformation of the frontonasal elevation. It could occur either in isolation or as part of a syndrome such as frontonasal dysplasia associated with periventricular heterotopia. Our goal is to document the first clinical case of prenatal diagnosis for frontonasal dysplasia associated with periventricular heterotopia by fetal magnetic resonance imaging (MRI) at weeks 19.

[Viral encephalitis in children].

Viral encephalitis is a severe illness that produces inflammation of the brain. CNS viral infections frequently occur as a complication of systemic viral infections. Over 100 viruses are implicated as causative agents, including herpes simplex virus type I which is the most common agent implied in non-epidemic encephalitis in all population groups in the world, and is responsible for the most severe cases in all ages.

[Guidelines for detection of inborn errors of metabolism based on clinical exam, analytical studies and neuroimaging techniques].

Neurometabolic disorders constitute an expanding and complex field in which it is difficult to diagnose and to acquire a specific education and training. This article tries to develop a practical orientation in the suspicion, clinical exam, biochemical studies and neuroimaging techniques for the detection of inborn errors of metabolism. It is very important for the neuropediatrician to suspect metabolic diseases depending on some of the most frequent unexplained neurological disturbances and symptoms as psychomotor delay, mental retardation, refractory epilepsy, dystonia, metabolic crisis or other extraneurological signs.

[Comparison of bibliometric indicators for neuropaediatrics in Revista de Neurologia and Anales de Pediatria over one decade].

AIM. Bibliometric analysis of neuropaediatrics articles published in Revista de Neurologia and Anales de Pediatria between 2000 and 2009. MATERIALS AND METHODS.

Methylphenidate effects on blood serotonin and melatonin levels may help to synchronise biological rhythms in children with ADHD.

Unlabelled: The neuroendocrine mediators that may contribute to ADHD (Attention deficit and hyperactivity disorder), serotonin and melatonin, are both thought to regulate circadian rhythms, neurological function and stress response. The objective of this study was to determine the effect of the chronic administration of prolonged release methylphenidate (PRMPH) on daily variations in blood serotonin and melatonin and on the excretion of 6-sulphatoxy-melatonin. A total of 179 children (136 males, 42 females) between the ages of 5 and 14 (9.

[Clinical variability of polymicrogiria: report of 35 new cases and review of the literature].

Introduction: The study of polymicrogyria with magnetic resonance imaging (MRI) has made possible the report of several series of patients in which the main clinical manifestations differ considerably. The aims of the study were to review the literature and to know the clinical variability of the patients attended in a neuropediatric service.

Patients And Methods: A retrospective study was conducted between 1989-2011 for the patients attended in our neuro-pediatric service and diagnosed of polymicrogyria by MRI.

[Sturge-Weber syndrome -clinical and neuroimaging variability].

Sturge Weber Syndrome is a rare neurocutaneous syndrome in which the severity is determined by degree of brain involvement and control of epilepsy. The authors describe and analyse clinical and imaging features of this syndrome, through a retrospective study of 13 patients (8 girls; aged between 15 days and 9 years at first visit). Twelve had facial angioma and one had atrichia corresponding to the area of brain involvement.

[Super-refractory status epilepticus: treatment with ketogenic diet in pediatrics].

Introduction: Super-refractory status epilepticus is that which persists despite suitable treatment with multiple anti-convulsive schemes, including prolonged coma with general anaesthetic. Different pharmacological treatment schemes have been proposed in these patients, including the use of a ketogenic diet.

Patients And Methods: This study is a retrospective analysis of five patient records of children between 1 and 14 years of age, three of whom were diagnosed with FIRES (febrile infection-related epilepsy syndrome) and two with a diagnosis of refractory symptomatic partial epilepsy.

[A critical analysis of the new classification of epilepsies and epileptic seizures of the International League Against Epilepsy (ILAE)].

The classification of epilepsies and epileptic syndromes currently in use dates back to the eighties. Around thirty years later, it is now time to look for new approaches that are better adapted to the numerous advances that have taken place over the years in the different areas of research on epilepsy (genetics, neuroimaging, neurophysiology, etc.).

[Cases of video electroencephalogram: differential diagnosis in newborn infants].

This study addresses a number of general considerations on epilepsies and epileptic syndromes that develop in the neonatal period. The chronological limits of this stage of maturation are set out and the pathophysiology of the convulsive phenomenon during that period are briefly analysed. Furthermore, the differences that exist as a result of the incipient level of maturity of the newborn infant's central nervous system with regard to other ages, and obviously adults, are highlighted.

[Tourette syndrome and reading disorder in a boy with left parietofrontal tract disruption].

We present the case of a nine-year-old boy with Tourette syndrome and reading disorder with a history of a severe infectious process in the late neonatal period. Brain MRI showed a left parietal malacotic cavity and diffusion tensor imaging and tractography showed a striking disruption of the white matter bundle that joins the left parietal region with the ipsilateral frontal region with involvement of the left superior longitudinal fasciculus and of the left arcuate fasciculus. Although Tourette syndrome and reading disorder are fundamentally hereditary neuropsychiatric disorders, they can also occur secondary to cerebral alterations like those existing in this boy.

[Interictal epileptiform discharges and cognitive impairment in children].

Introduction: Learning disorders are very frequent among children with epilepsy. The etiology is multifactorial, being affected by the type of epileptic syndrome, the cause of epilepsy, a high frequency of epileptic seizures, a previous history of status epilepticus, the age of onset of epilepsy, the antiepileptic treatment being selected, and the role of interictal epileptiform discharges. Several studies have sought to analyze to what extent cognitive impairment can be attributed to interictal epileptiform discharges among the other epilepsy factors.

[Rolandic epilepsy clinical variants and their influence on the prognosis].

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.