[Macrocephaly in childhood].

In a wide spectrum of cases in childhood, macrocephaly does not carry a neurological risk, although a range of possibilities will have an impact on both the evolutionary and cognitive aspects of children. The previous happens in pathologies with progressive components, such as tumors or hydrocephalus, and in those cases in which the factor of the growth of the cephalic perimeter is given by structural components of the nervous system as it happens in megalocephaly. As in all other medical acts, the careful taking of the anamnesis, the appropriate neurological examination and the valuations of the neurodevelopment items can give a thorough orientation about the etiology and importance of the problem.

[Non-paroxysmal disorder in infant].

Non-epileptic paroxysmal disorders (PNED) are defined as events that mimic epileptic seizures. Its onset is usually sudden and short-lived, caused by brain dysfunction of various origins, but not due to excessive neuronal firing. Its incidence is higher than the epilepsy (10:1).

Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene.

The human iPSC cell line, ARS-FiPS4F1 (ESi063-A), derived from dermal fibroblast from the patient autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutations on the gene SACSIN, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC and KLF4 reprogramming factors. The pluripotency was assessed by immunocytochemistry and RT-PCR. Differentiation capacity was verified in vitro.

[Isotretinoin embryopathy: An entity that can be avoided].

Isotretinoin is the most effective drug in the treatment of severe recalcitrant nodulocystic acne. However, treatment with this drug is associated with adverse effects, the most severe being teratogenesis. It has been estimated that 40% of pregnancies exposed to isotretinoin present spontaneous abortion and 35% develop embryopathy.

Optic neuritis in paediatric patients: Experience over 27 years and a management protocol.

Introduction And Objective: In this article, we present our experience on optic neuritis (ON) and provide a diagnostic/therapeutic protocol, intended to rule out other aetiologies (particularly infection), and a fact sheet for parents.

Material And Methods: We conducted a descriptive, retrospective study of patients with ON over a 27-year period (1990-2017). A review of the available scientific evidence was performed in order to draft the protocol and fact sheet.

Characterizing Normal and Pathological Gait through Permutation Entropy.

Cerebral palsy is a physical impairment stemming from a brain lesion at perinatal time, most of the time resulting in gait abnormalities: the first cause of severe disability in childhood. Gait study, and instrumental gait analysis in particular, has been receiving increasing attention in the last few years, for being the complex result of the interactions between different brain motor areas and thus a proxy in the understanding of the underlying neural dynamics. Yet, and in spite of its importance, little is still known about how the brain adapts to cerebral palsy and to its impaired gait and, consequently, about the best strategies for mitigating the disability.

[Cryptogenic West syndrome: Clinical profile, response to treatment and prognostic factors].

Introduction: West syndrome (WS) is an age-dependent epileptic encephalopathy in which the prognosis varies according to the, not always identified, underlying origin.

Objectives: To define the profile of cryptogenic (a least studied isolated sub-group) WS, in Spain. To study its outcome, response to different treatments, and to establish prognostic factors.

[Clinical and molecular study in a family with cleidocranial dysplasia].

Cleidocranial dysplasia is an uncommon bone dysplasia with an autosomal dominant inheritance pattern characterized by short stature, large fontanels, midface hypoplasia, absence or hypoplasia of clavicles and orodental alterations. This is Estudio clínico y molecular en una familia con displasia cleidocraneal Clinical and molecular study in a family with cleidocranial dysplasia produced by mutations in the RUNX2 gene located at 6p21.1.

[Pontocerebellar hypoplasia secondary to CASK gene deletion: Case report].

Introduction: Pontocerebellar hypoplasia (PCH) is a reduction of the size of the cerebellum and pons secondary to an alteration in its development, and can be caused by neurodegenerative diseases of genetic origin, of which there are known 10 subtypes (PCH 1-10), cortical malformations, metabolic and genetic diseases.

Objective: To present the case of a child with microcephaly, PCH and West syndrome, in which the genetic study allowed to make the diagnosis of a deletion on chromosome X.

Case Report: This is a female infant of 7-month at diagnosis, without family or obstetric history of interest, head circumference at birth -1.

Neuropsychological assessment and perinatal risk: A study amongst very premature born 4- and 5-year old children.

Background: Prematurity and its consequences are serious problems that can result in numerous neurosensory disabilities and cerebral cognitive dysfunctions. The Perinatal Risk Index (PERI) might provide a predictive measure of these problems.

Aim: This study compared the cognitive development of prematurely born children at 4 and 5 years of age with age-matched peers born at term.

[Maternal postnatal depression and its impact on child neurodevelopment: a cohort study].

Unlabelled: Post partum depresion (DPP) is the most frequent psquiatric disorder in pregnant woman and it may affect the neurodevelopment of their offspring. Our goal was to analyze the association between maternal depressive symptoms at 6 months after birth and child’s neurodevelopmental disorders at 18 months-old, in a homogeneous population characterized by low socioeconomic and cultural level.

Patients And Methods: A prospective cohort study was conducted.

Transition from paediatric care to adult care for patients with mucopolysaccharidosis.

Mucopolysaccharidosis are multisystem diseases that require large multidisciplinary teams for their care. Specific recommendations are therefore needed for the transition from childhood to adulthood in this patient group. To overcome the barriers that might arise during the transition, the authors consider it essential to implement a flexible plan with a coordinator for the entire process, systematising the information through a standardised paediatric discharge report and educating the patient and their family about the disease, showing the characteristics of the healthcare system in this new stage.

[Mosaic trisomy 18. Series of cases].

Trisomy 18 syndrome (T18) is a clinical and genetic disorder, which has a full extra chromosome 18 in each cell, variant that is called free trisomy. In addition, it can occur in partial and mosaic form. It is characterized by intrauterine growth restriction, psychomotor and mental retardation, characteristic craniofacial findings, congenital heart disease, hypoplastic pelvis, clenched hand and rocker-bottom foot, among others.

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.

Background And Purpose: Pompe disease is a rare inheritable muscle disorder for which enzyme replacement therapy (ERT) has been available since 2006. Uniform criteria for starting and stopping ERT in adult patients were developed and reported here.

Methods: Three consensus meetings were organized through the European Pompe Consortium, a network of experts from 11 European countries in the field of Pompe disease.

Utility of ultrasound-guided injection of botulinum toxin type A for muscle imbalance in children with obstetric brachial plexus palsy: Description of the procedure and action protocol.

Introduction: Obstetric brachial plexus palsy (OBPP) usually has a favourable prognosis. However, nearly one third of all severe cases have permanent sequelae causing a high level of disability. In this study, we explore the effectiveness of ultrasound-guided injection of botulinum toxin A (BoNT-A) and describe the procedure.

Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.

Introduction: Variant detection protocols for clinical next-generation sequencing (NGS) need application-specific optimization. Our aim was to analyze the performance of single nucleotide variant (SNV) and copy number (CNV) detection programs on an NGS panel for a rare disease.

Methods: Thirty genes were sequenced in 83 patients with hereditary spastic paraplegia.

Pseudotumour cerebri in children: Aetiology, clinical features, and progression.

Introduction: The definition, associated aetiologies, diagnosis, and treatment of idiopathic intracranial hypertension, or pseudotumour cerebri (PTC), are constantly being revised in the paediatric population.

Objectives And Methods: Our study included children younger than 15 years old with PTC and attended at a reference hospital in the past 12 years. We analysed the clinical and epidemiological features of our sample and the diagnostic and treatment approaches.