Cortical Blindness in a Child Secondary to Mycoplasma pneumoniae Infection.

Our objective is to present a case of an uncommon complication associated with Mycoplasma pneumoniae infection in a child where cortical blindness was the main clinical feature. Stroke due to an infection by M. pneumoniae is very uncommon.

[Neuropsychological performance in neurofibromatosis type 1].

Introduction: Neurofibromatosis type 1 (NF1) is a genetic disorder with various clinical manifestations that affect the peripheral and central nervous system, as well as the skin, bones and endocrine and vascular system. There is still insufficient knowledge of neuropsychological effects of NF1 on children, and there is some controversy about the cognitive deficits that defines the cognitive profile of patients affected by this disorder.

Aims: In this study an analysis is made of the neuropsychological performance of a group of patients affected by NF1, compared with a control group of healthy children.

[Neuropsychological alterations are frequent in rolandic epilepsy and its atypical developments].

Introduction: Rolandic epilepsy or benign childhood epilepsy with centrotemporal spikes is called benign because its seizures are usually favourable and due to the spontaneous normalisation of the electroencephalogram on reaching puberty. Nevertheless, evidence has been found of the impact on cognitive development with the presence of heterogeneous cognitive deficits, especially related to persistent intercritical discharges during non-REM sleep. The aim of this study is to examine the epileptogenic networks involved in the neuropsychological disorders of this pathology.

[The importance of sleep problems in children with headache and other neurodevelopmental disorders in neuropaediatric services].

Introduction: Sleep disorders are common in children with neurological disorders. The aim of this study is to know the opinion of neuropediatricians and the prevalence of these disturbances in Spain.

Patients And Methods: Multicenter cross-sectional study (12 Spanish hospitals, 15 researchers).

[The atypical developments of rolandic epilepsy are predictable complications].

Introduction: The development of atypical features in rolandic epilepsy is part of a clinical spectrum of phenotypes that are variable, idiopathic and age-dependent, as well as having a genetically determined predisposition.

Aim: To study the electroclinical characteristics suggesting an atypical development in rolandic epilepsy.

Patients And Methods: A retrospective search was performed in 133 children diagnosed with atypical benign focal epilepsy (ABFE), Landau-Kleffner syndrome and continuous spike-wave during sleep (CSWS).

Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene.

A benign prognosis has been claimed in benign familial infantile seizures (BFIS). However, few studies have assessed the long-term evolution of these patients. The objective of this study is to describe atypical courses and presentations in BFIS families with mutations in PRRT2 gene.

[Cost-effectiveness of buccal midazolam in the treatment of prolonged convulsive seizures in the outpatient setting in Spain].

Introduction: To be able to treat prolonged epileptic crises practical, safe and effective rescue medication is needed. Today, the standard treatment in community healthcare is rectal diazepam. The introduction of a buccal solution of midazolam opens up a new perspective in their treatment.

[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.

Efficacy and tolerability of lacosamide in the concomitant treatment of 130 patients under 16 years of age with refractory epilepsy: a prospective, open-label, observational, multicenter study in Spain.

Background: The safety and effectiveness of lacosamide, an antiepileptic drug (AED) that selectively enhances the slow inactivation of voltage-gated sodium channels without affecting rapid inactivation, has been demonstrated in randomized, double-blind, placebo-controlled trials in adults with focal epileptic seizures. Although lacosamide is approved for use in patients over 16 years of age, limited clinical experience exists for younger patients.

Objective: To assess the efficacy and tolerability of lacosamide in children with refractory epilepsy.

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.

Background: Juvenile neuronal ceroid lipofuscinosis (JNCL, NCL3, Batten disease) is usually caused by a 1.02-kb deletion in the CLN3 gene. Mutations in the CLN1 gene may be associated with a variant form of JNCL (vJNCL).

[Narcolepsy with and without cataplexy: an uncommon disabling and unrecognized disease].

Although narcolepsy is a relatively uncommon condition, its impact on a child's life can be dramatic and disabling. Narcolepsy is characterized by excessive daytime sleepiness (EDS), with brief "sleep attacks" at very unusual times and usually associated with cataplexy (sudden loss of muscle control while awake, resulting in a fall, triggered by laughter). Other symptoms frequently reported are sleep paralysis (feeling of being unable to move or speak, even totally aware), hypnagogic hallucinations (vivid dreamlike experiences difficult to distinguish from reality) or disturbed night time sleep.

[Coding in neuropediatrics based on the International Classification Diseases, 9th revision (ICD-9), 5th edition (2006)].

Aims: To analyze International Classification Diseases, 9th revision (ICD-9) coding and adapt it, on a consensus basis, to 'reasons for medical consultation', 'diagnoses' and 'procedures' in child neurology.

Materials And Methods: The most frequent reasons for medical consultation, diagnoses and procedures in neuropediatrics were selected and assigned the most appropriate ICD-9, Clinical Modification (5th ed.) (ICD-9-CM) codes in accordance with this system's coding rules.

[Evaluation of the diagnosis and treatment of children with attention deficit hyperactivity disorder in Spain using the Achievable Benchmarks of Care (ABC) technique].

Introduction And Aims: Attention deficit hyperactivity disorder (ADHD) is currently of great interest to the public and the diagnostic process, evaluation of the follow-up and therapeutic strategies in these patients are the subject of a fierce debate. In this study we assess compliance with the ADHD diagnostic and therapeutic guidelines in Spain, in relation to the American Academy of Pediatrics (AAP) guidelines, and it is measured using the Achievable Benchmarks of Care (ABC) technique.

Subjects And Methods: The study involved 215 specialists, 138 child and youth psychiatrists, and 77 neuropaediatricians.

Diagnosis of epilepsy over the course of the disease.

Background: At the onset of the disease, differential diagnosis should be established between an epileptic seizure and a series of paroxysmal phenomena, such as syncope, pseudoseizure, or migraine aura, which may manifest with similar symptoms. But even when the initial differential diagnosis is established rigorously, we will see that it is often necessary to reconsider the diagnosis of epilepsy during the course of the disease.

Review Summary: Prospective studies analyzing initial recognition of epilepsy found that on half of occasions the diagnosis was reached late, when the patient had already suffered repeated seizures.

[Benign myoclonic epilepsy -a curious case report].

Introduction: Benign myoclonic epilepsy in infants is a rare condition that belongs to the group of epilepsies and generalised epileptic syndromes. Doubts have recently arisen as to whether it is really benign, with some reports of cases of compromised psychomotor development when therapy is started late. The differential diagnosis can be associated with epileptic and non-epileptic diseases, and it is important to preclude it from the former due to their severity.

Long-term use of oxcarbazepine oral suspension in childhood epilepsy: open-label study.

Studies designed specifically for the pediatric population are needed to assess the tolerability and safety of the new antiepileptic drugs. The purpose of this study was to document the safety, ease of dosing, and acceptance of oxcarbazepine oral suspension in pediatric patients in monotherapy and polytherapy. A prospective, multicenter, open-label study was conducted at the neurology services of three pediatric university hospitals over 12 months.

MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation.

Subtelomeric rearrangements not visible by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). As the prevalence of MR is high, many patients need to be screened for these chromosomal abnormalities routinely. Multiplex ligation-dependent probe amplification (MLPA) is a new technique for measuring sequence dosage, allowing large number of samples to be processed simultaneously and thus significantly reducing laboratory work.

Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias.

Background: Acute intermittent porphyria (AIP), due to half-normal hydroxymethylbilane synthase activity,is characterized by acute life-threatening neurologic attacks whose etiology remains unclear. To date, only 3 patients confirmed to have homozygous dominant AIP (HD-AIP) have been described (hydroxymethylbilane synthase genotypes R167Q/R167Q and R167W/R173Q).

Objective: To investigate the genetic, biochemical, clinical, and neuroradiologic features of a severely affected infant with HD-AIP.