[Triplet expansion cytosine-guanine-guanine: Three cases of OMIM syndrome in the same family].

Introduction: The dynamic increase in the number of triplet repeats of cytosine-guanine-guanine (CGG) in the FMR1 gene mutation is responsible for three OMIM syndromes with a distinct clinical phenotype: Fragile X syndrome (FXS) and two pathologies in adult carriers of the premutation (55-200 CGG repeats): Primary ovarian insufficiency (FXPOI) and tremor-ataxia syndrome (FXTAS) associated with FXS.

Clinical Observation And Methods: CGG mutation dynamics of the FMR1 gene were studied in DNA samples from peripheral blood from the index case and other relatives of first, second and third degree by TP-PCR, and the percentage methylation.

Results: Diagnosis of FXS was confirmed in three patients (21.

Articular manifestations in patients with Lyme disease.

Objectives: To determine the percentage of Lyme patients with articular manifestations in NW Spain and to know their evolution and response to treatment.

Patients: A retrospective study (2006-2013) was performed using medical histories of confirmed cases of Lyme disease showing articular manifestations. Clinical and laboratory characteristics, together with the treatment and evolution of the patients, were analysed.

Pilot study of the efficacy of empowering patients through coaching as a complementary therapy in attention deficit hyperactivity disorder.

Introduction: Attention deficit hyperactivity disorder (ADHD) is the most frequent neurodevelopmental disorder and must be considered a public health priority because of its functional repercussions in school, family, and social settings. Health empowerment is an innovative model of care for patients with chronic diseases based on self-management education. Our goal is to evaluate the effectiveness of empowerment using coaching within a multimodal treatment plan in paediatric patients with ADHD.

[Cerebellar cognitive affective syndrome].

Introduction: The diagnosis of Cerebellar Cognitive Affective Syndrome should be considered in patients with cerebellar lesions who also suffer cognitive deficits associated with visuospatial or executive neuropsychological disorders, expressive language disorders and affective disorders.

Clinical Case: A 16 year old adolescent diagnosed with Attention Deficit Hyperactivity Disorder at the age of 7 presents with emotional instability, apathy, and speech and reading difficulties. Neuropsychological tests show visuospatial difficulties.

3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases.

To date, few cases of 3p proximal interstitial deletions have been reported and the phenotype and genotype correlation is not well understood. Here, we report a new case of a 3p proximal interstitial deletion. The patient is an 11-year-old female with speech and social interaction difficulties, learning disability, and slight facial dysmorphism, but no other major malformations.

Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.

Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, a very rare inborn error of metabolism with 21 cases reported worldwide. We report the case of a Spanish boy of Caucasian origin who presented a generalized congenital muscular hypotonia, more intense at lower limb muscles, mildly elevated creatine kinase (CK), serum aspartate transaminase (AST) and lactate. Electromyography (EMG) showed neurogenic potentials in the proximal muscles.

Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.

Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy and central nervous system malformations. This syndrome is caused by mutations in the RAB3GAP1/2 and RAB18 genes, part of the Rab family, and in the TBC1D20 gene, which contributes to lipid droplet formation/metabolism. Here we present a patient with clinical diagnosis of WARBM syndrome, who did not have mutations in either the RAB3GAP1/2 genes, in the main exons of RAB18, nor in the TBC1D20 gene.

[Arachnoid cysts: Embriology and pathology].

There is still great controversy surrounding the origin of the arachnoid cyst. The most accepted theory in the case of congenital cysts explains how they are formed from an anomalous development of the arachnoid membrane, which is unfolded allowing the accumulation of cerebrospinal fluid inside and creating a cyst. This theory seems to explain the origin of convexity and sylvian cistern arachnoid cysts, whereas those in other locations might be due to other mechanisms.

[Epidemiology of Lyme disease in a healthcare area in north-west Spain].

Objective: To evaluate the influence of some risk factors on the incidence rate of Lyme disease and the main clinical manifestations.

Methods: A retrospective study of Lyme disease (2006-2013) was performed in north-west Spain; we included only patients who fulfilled the epidemiological surveillance criteria defined by the Centers for Disease Control and Prevention.

Results: The incidence rate varied between 2.

[Choroid plexus tumour treatment at Hospital Infantil Niño Jesús in Madrid: Our experience over the last three decades].

Objective: To review childhood patients with choroid plexus tumors (CPT) who underwent surgery at Hospital Infantil Niño Jesús of Madrid since January 1981 to September 2014.

Material And Methods: Registered charts were analyzed based on the epidemiology, tumor grade, clinical profile, location, dissemination characteristics, therapy, prognosis and complications.

Results: Seventeen childhood patients were recorded with CPT.

Expert recommendation: contributions to clinical practice of the new prodrug lisdexamfetamine dimesylate (LDX) in the treatment of attention deficit hyperactivity disorder (ADHD).

Attention deficit hyperactivity disorder (ADHD) is one of the most common neurobiological disorders in childhood, and is characterized by inappropriate levels of inattention, hyperactivity and/or impulsiveness, with an estimated prevalence of 5.29%. ADHD can have a negative impact upon all areas of the life of the patient.

Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome.

Introduction: Ohtahara syndrome (OS, OMIM#308350, ORPHA1934) is an early-onset epileptic encephalopathy (EOEE) characterised by spasms, intractable seizures, suppression-burst pattern on the electroencephalogram, and severe psychomotor retardation. Mutations in STXBP1 -a gene that codes for syntaxin binding protein 1 and is involved in synaptic vesicle exocytosis- has been identified in most patients with OS.

Patient And Results: We report the case of a 19-month-old child with OS who displays a previously unreported mutation in STXBP1 (c.

[Metatropic dysplasia in a girl with c.1811_1812delinsAT mutation in exon 11 of the TRPV4 gene not previously reported].

Metatropic dysplasia is a skeletal disorder with clinical heterogeneity, characterized by craniofacial dysmorphy including frontal bossing and midface hypoplasia, short trunk,progressive kyphoscoliosis and shortened limbs. The TRPV4 gene is located on 12q24.11, coding a cation channel with nonselective permeability to calcium; it is expressed and involved in many physiological processes through responses to different stimuli.

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.

Background: Kearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion syndrome that presents with profound cerebral folate deficiency and other features. Preliminary data support the notion that folinic acid therapy might be useful in the treatment of KSS patients. Our aim was to assess the clinical and neuroimaging outcomes of KSS patients receiving folinic acid therapy.

[Schinzel-Giedion syndrome: a new mutation in SETBP1].

Schinzel-Giedion syndrome (SGS) (#MIM 269150) is a rare genetic disorder characterized by very marked craniofacial dysmorphism, multiple congenital anomalies and severe intellectual disability. Most affected patients die in early childhood. SETBP1 was identified as the causative gene, but a limited number of patients with molecular confirmation have been reported to date.

[Magnetic resonance imaging without sedation in neonates].

Introduction: The ability to perform magnetic resonance imaging (MRI) without sedation in the neonatal period increases patient safety, availability and profitability of the diagnostic tool. The aim in this study was to evaluate a new protocol of MRI without sedation during a 20-month period. In the protocol, the patients are prepared in the neonatal unit.

Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.

Background: Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, but never in patients with an additional combined deficiency of complexes I, III and IV and mitochondrial DNA (mtDNA) depletion.

Aims: To report mutations in carry genes for MDCMC with respiratory chain defects and mtDNA depletion.

Methods: Whole-exome sequencing (WES) was used to identify the carry genes in a Spanish child with muscle weakness, mild hypotonia at lower limb muscles, mildly elevated creatine kinase (CK), enlarged mitochondria in the periphery of the fibers, combined deficiency of complex I, III and IV and depletion of mtDNA.