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  1. Article ; Online: Crecimiento atípico en un lipoma intracraneal.

    Moreno-Sánchez, A / Salinas-Salvador, B / Molina-Herranz, D / Peña-Segura, J L

    Revista de neurologia

    2022  Volume 75, Issue 9, Page(s) 295

    Title translation Atypical growth of an intracranial lipoma.
    MeSH term(s) Humans ; Lipoma/diagnostic imaging ; Brain Neoplasms/diagnostic imaging
    Language Spanish
    Publishing date 2022-10-26
    Publishing country Spain
    Document type Case Reports
    ZDB-ID 1468278-3
    ISSN 1576-6578 ; 0210-0010
    ISSN (online) 1576-6578
    ISSN 0210-0010
    DOI 10.33588/rn.7509.2022228
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Síndrome de duplicación MECP2 familiar.

    Gutiérrez-Sánchez, A M / Marín-Andrés, M / López-Lafuente, A / Monge-Galindo, L / López-Pisón, J / Peña-Segura, J L

    Revista de neurologia

    2020  Volume 70, Issue 8, Page(s) 309–310

    Title translation Familial MECP2 duplication syndrome.
    MeSH term(s) Humans ; Infant ; Male ; Mental Retardation, X-Linked/genetics ; Pedigree
    Language Spanish
    Publishing date 2020-03-31
    Publishing country Spain
    Document type Case Reports ; Letter
    ZDB-ID 1468278-3
    ISSN 1576-6578 ; 0210-0010
    ISSN (online) 1576-6578
    ISSN 0210-0010
    DOI 10.33588/rn.7008.2019457
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Presentación atípica de encefalopatía epiléptica infantil precoz asociada al gen KCNT1.

    Moreno-Sánchez, A / Pitarch-Roca, E / Molina-Herranz, D / Pérez-Delgado, R / García-Jiménez, I / Dolz-Zaera, I / Peña-Segura, J L / López-Pisón, J

    Revista de neurologia

    2020  Volume 71, Issue 1, Page(s) 41–42

    Title translation Atypical presentation of early childhood epileptic encephalopathy associated with the gene KCNT1.
    MeSH term(s) Anticonvulsants/therapeutic use ; Diet, Ketogenic ; Drug Resistant Epilepsy/diet therapy ; Drug Resistant Epilepsy/genetics ; Drug Therapy, Combination ; Genes, Dominant ; Genetic Association Studies ; Humans ; Infant ; Male ; Mutation, Missense ; Nerve Tissue Proteins/genetics ; Point Mutation ; Potassium Channels, Sodium-Activated/genetics ; Spasms, Infantile/drug therapy ; Spasms, Infantile/genetics
    Chemical Substances Anticonvulsants ; KCNT1 protein, human ; Nerve Tissue Proteins ; Potassium Channels, Sodium-Activated
    Language Spanish
    Publishing date 2020-06-24
    Publishing country Spain
    Document type Case Reports ; Letter
    ZDB-ID 1468278-3
    ISSN 1576-6578 ; 0210-0010
    ISSN (online) 1576-6578
    ISSN 0210-0010
    DOI 10.33588/rn.7101.2020142
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  4. Article ; Online: Neurofibromatosis 1 y cavernomatosis multiple familiar en un lactante con sialorrea profusa episodica.

    Sanchez-Marco, S B / Monge-Galindo, L / Lopez-Pison, J / Garcia-Jimenez, I / Pena-Segura, J L / Lopez-Lafuente, A

    Revista de neurologia

    2019  Volume 69, Issue 8, Page(s) 350–352

    Title translation Neurofibromatosis 1 and multiple familial cavernomatosis in an infant with episodic profuse sialorrhoea.
    MeSH term(s) Brain Neoplasms/complications ; Brain Neoplasms/diagnosis ; Hemangioma, Cavernous/complications ; Hemangioma, Cavernous/diagnosis ; Humans ; Infant ; Male ; Neoplasms, Multiple Primary/complications ; Neoplasms, Multiple Primary/diagnosis ; Neurofibromatosis 1/complications ; Neurofibromatosis 1/diagnosis ; Sialorrhea/complications ; Sialorrhea/diagnosis
    Language Spanish
    Publishing date 2019-10-13
    Publishing country Spain
    Document type Case Reports ; Letter
    ZDB-ID 1468278-3
    ISSN 1576-6578 ; 0210-0010
    ISSN (online) 1576-6578
    ISSN 0210-0010
    DOI 10.33588/rn.6908.2019230
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  5. Article ; Online: Effect of prematurity and low birth weight in visual abilities and school performance.

    Perez-Roche, T / Altemir, I / Giménez, G / Prieto, E / González, I / Peña-Segura, J L / Castillo, O / Pueyo, V

    Research in developmental disabilities

    2016  Volume 59, Page(s) 451–457

    Abstract: Background: Prematurity and low birth weight are known risk factors for cognitive and developmental impairments, and school failure. Visual perceptual and visual motor skills seem to be among the most affected cognitive domains in these children.: ... ...

    Abstract Background: Prematurity and low birth weight are known risk factors for cognitive and developmental impairments, and school failure. Visual perceptual and visual motor skills seem to be among the most affected cognitive domains in these children.
    Aims: To assess the influence of prematurity and low birth weight in visual cognitive skills and school performance.
    Methods: We performed a prospective cohort study, which included 80 boys and girls in an age range from 5 to 13. Subjects were grouped by gestational age at birth (preterm, <37 weeks; term, 37-42 weeks) and birth weight (small for gestational age (SGA), <10th centile; appropriate weight for gestational age (AGA), ≥10th centile). Each child underwent full ophthalmologic assessment and standardized testing of visual cognitive abilities (Test of Visual Perceptual Skills and Test of Visual Analysis Skills). Parents completed a questionnaire on school performance in children.
    Results: Figure-ground skill and visual motor integration were significantly decreased in the preterm birth group, compared with term control subjects (figure-ground: 45.7 vs 66.5, p=0.012; visual motor integration, TVAS: (9.9 vs 11.8, p=0.018), while outcomes of visual memory (29.0 vs 47.7, p=0.012), form constancy (33.3 vs 52.8, p=0.019), figure-ground (37.4 vs 65.6, p=0.001), and visual closure (43.7 vs 62.6 p=0.016) testing were lower in the SGA (vs AGA) group. Visual cognitive difficulties corresponded with worse performance in mathematics (r=0.414, p=0.004) and reading (r=0.343, p=0.018).
    Conclusion: Specific patterns of visual perceptual and visual motor deficits are displayed by children born preterm or SGA, which hinder mathematics and reading performance.
    MeSH term(s) Achievement ; Adolescent ; Birth Weight ; Child ; Child Development ; Child, Preschool ; Cognition ; Cohort Studies ; Female ; Gestational Age ; Humans ; Infant, Low Birth Weight ; Infant, Premature ; Infant, Small for Gestational Age ; Male ; Mathematics ; Motor Skills ; Prospective Studies ; Psychomotor Performance ; Reading ; Schools ; Visual Perception
    Language English
    Publishing date 2016-12
    Publishing country United States
    Document type Journal Article
    ZDB-ID 639175-8
    ISSN 1873-3379 ; 0891-4222
    ISSN (online) 1873-3379
    ISSN 0891-4222
    DOI 10.1016/j.ridd.2016.10.002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Optic neuritis in paediatric patients: Experience over 27 years and a management protocol.

    Monge Galindo, L / Martínez de Morentín, A L / Pueyo Royo, V / García Iñiguez, J P / Sánchez Marco, S / López-Pisón, J / Peña-Segura, J L

    Neurologia (Barcelona, Spain)

    2018  Volume 36, Issue 4, Page(s) 253–261

    Abstract: 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 ... ...

    Title translation Neuritis óptica en pediatría: experiencia en 27 años y protocolo de actuación.
    Abstract 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.
    Results: Our neuropaediatrics department has assessed 20,744 patients in the last 27 years, of whom 14 were diagnosed with ON: 8 had isolated ON, 1 had multiple sclerosis (MS), 1 had clinically isolated syndrome (CIS), 3 had acute disseminated encephalomyelitis, and 1 had isolated ON and a history of acute disseminated encephalomyelitis one year previously. Patients' age range was 4-13 years; 50% were boys. Eight patients were aged over 10: 7 had isolated ON and 1 had MS. Nine patients had bilateral ON, and 3 had retrobulbar ON. MRI results were normal in 7 patients and showed involvement of the optic nerve only in 2 patients and optic nerve involvement + central nervous system demyelination in 5. Thirteen patients received corticosteroids. One patient had been vaccinated against meningococcus-C the previous month. Progression was favourable, except in the patient with MS. A management protocol and fact sheet are provided.
    Conclusions: ON usually has a favourable clinical course. In children aged older than 10 years with risk factors for MS or optic neuromyelitis (hyperintensity on brain MRI, oligoclonal bands, anti-NMO antibody positivity, ON recurrence), the initiation of immunomodulatory treatment should be agreed with the neurology department. The protocol is useful for diagnostic decision-making, follow-up, and treatment of this rare disease with potentially major repercussions. The use of protocols and fact sheets is important.
    MeSH term(s) Adolescent ; Child ; Child, Preschool ; Encephalomyelitis, Acute Disseminated ; Female ; Humans ; Male ; Multiple Sclerosis ; Neuromyelitis Optica ; Optic Neuritis/diagnosis ; Optic Neuritis/therapy ; Retrospective Studies ; Review Literature as Topic
    Language Spanish
    Publishing date 2018-03-09
    Publishing country Spain
    Document type Journal Article
    ZDB-ID 2654369-2
    ISSN 2173-5808 ; 2173-5808
    ISSN (online) 2173-5808
    ISSN 2173-5808
    DOI 10.1016/j.nrl.2018.01.008
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  7. Article ; Online: Expansión del triplete citosina-guanina-guanina: 3 casos de síndrome OMIM en una misma familia.

    González-Pérez, Jesús / Izquierdo-Álvarez, Silvia / Fuertes-Rodrigo, Cristina / Monge-Galindo, Lorena / Peña-Segura, José Luis / López-Pisón, Francisco Javier

    Medicina clinica

    2016  Volume 146, Issue 7, Page(s) 311–315

    Abstract: 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 ... ...

    Title translation Triplet expansion cytosine-guanine-guanine: Three cases of OMIM syndrome in the same family.
    Abstract 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 (21.4%), eight patients (57.1%) were confirmed in the premutation range transmitters, one male patient with full mutation/permutation mosaicism (7.1%) and two patients (14.3%) with normal study. Of the eight permutated patients, three had FXPOI and one male patient had FXTAS.
    Discussion: Our study suggests the importance of making an early diagnosis of SXF in order to carry out a family study and genetic counselling, which allow the identification of new cases or premutated patients with FMR1 gene- associated syndromes (FXTAS, FXPOI).
    MeSH term(s) Adolescent ; Adult ; Aged ; Ataxia/diagnosis ; Ataxia/genetics ; Child ; Child, Preschool ; Female ; Fragile X Mental Retardation Protein/genetics ; Fragile X Syndrome/diagnosis ; Fragile X Syndrome/genetics ; Genetic Markers ; Genetic Testing ; Humans ; Male ; Middle Aged ; Mutation ; Primary Ovarian Insufficiency/diagnosis ; Primary Ovarian Insufficiency/genetics ; Tremor/diagnosis ; Tremor/genetics ; Trinucleotide Repeats
    Chemical Substances FMR1 protein, human ; Genetic Markers ; Fragile X Mental Retardation Protein (139135-51-6)
    Language Spanish
    Publishing date 2016-04-01
    Publishing country Spain
    Document type Case Reports ; Journal Article
    ZDB-ID 411607-0
    ISSN 1578-8989 ; 0025-7753
    ISSN (online) 1578-8989
    ISSN 0025-7753
    DOI 10.1016/j.medcli.2015.11.022
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  8. Article ; Online: Descriptive study of symptomatic epilepsy by age of onset in patients with a 3-year follow-up at the Neuropaediatric Department of a reference centre.

    Ochoa-Gómez, L / López-Pisón, J / Fuertes-Rodrigo, C / Fernando-Martínez, R / Samper-Villagrasa, P / Monge-Galindo, L / Peña-Segura, J L / García-Jiménez, M C

    Neurologia (Barcelona, Spain)

    2017  Volume 32, Issue 7, Page(s) 455–462

    Abstract: Objective: We conducted a descriptive study of symptomatic epilepsy by age at onset in a cohort of patients who were followed up at a neuropaediatric department of a reference hospital over a 3-year period PATIENTS AND METHODS: We included all children ... ...

    Title translation Estudio descriptivo de las epilepsias sintomáticas según edad de inicio controladas durante 3 años en una Unidad de Neuropediatría de referencia regional.
    Abstract Objective: We conducted a descriptive study of symptomatic epilepsy by age at onset in a cohort of patients who were followed up at a neuropaediatric department of a reference hospital over a 3-year period PATIENTS AND METHODS: We included all children with epilepsy who were followed up from January 1, 2008 to December 31, 2010 RESULTS: Of the 4595 children seen during the study period, 605 (13.17%) were diagnosed with epilepsy; 277 (45.79%) of these had symptomatic epilepsy. Symptomatic epilepsy accounted for 67.72% and 61.39% of all epilepsies starting before one year of age, or between the ages of one and 3, respectively. The aetiologies of symptomatic epilepsy in our sample were: prenatal encephalopathies (24.46% of all epileptic patients), perinatal encephalopathies (9.26%), post-natal encephalopathies (3.14%), metabolic and degenerative encephalopathies (1.98%), mesial temporal sclerosis (1.32%), neurocutaneous syndromes (2.64%), vascular malformations (0.17%), cavernomas (0.17%), and intracranial tumours (2.48%). In some aetiologies, seizures begin before the age of one; these include Down syndrome, genetic lissencephaly, congenital cytomegalovirus infection, hypoxic-ischaemic encephalopathy, metabolic encephalopathies, and tuberous sclerosis.
    Conclusions: The lack of a universally accepted classification of epileptic syndromes makes it difficult to compare series from different studies. We suggest that all epilepsies are symptomatic because they have a cause, whether genetic or acquired. The age of onset may point to specific aetiologies. Classifying epilepsy by aetiology might be a useful approach. We could establish 2 groups: a large group including epileptic syndromes with known aetiologies or associated with genetic syndromes which are very likely to cause epilepsy, and another group including epileptic syndromes with no known cause. Thanks to the advances in neuroimaging and genetics, the latter group is expected to become increasingly smaller.
    Language Spanish
    Publishing date 2017-09
    Publishing country Spain
    Document type Journal Article
    ZDB-ID 1056021-x
    ISSN 1578-1968 ; 0213-4853
    ISSN (online) 1578-1968
    ISSN 0213-4853
    DOI 10.1016/j.nrl.2016.02.010
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  9. Article ; Online: Síndrome de Gorlin en la edad pediátrica.

    Roncalés-Samanes, P / Peña-Segura, J L / Fernando-Martínez, R / Fuertes-Rodrigo, C / García-Oguiza, A / López-Pisón, J

    Revista de neurologia

    2014  Volume 58, Issue 7, Page(s) 303–307

    Abstract: Introduction: Gorlin syndrome (GS) is a disorder transmitted by dominant autosomal inheritance associated to mutations in PTCH1, the main characteristic of which is the appearance of basal cell carcinomas, together with skeletal abnormalities, ... ...

    Title translation Gorlin syndrome in the paediatric age.
    Abstract Introduction: Gorlin syndrome (GS) is a disorder transmitted by dominant autosomal inheritance associated to mutations in PTCH1, the main characteristic of which is the appearance of basal cell carcinomas, together with skeletal abnormalities, odontogenic keratocysts and intracranial tumours.
    Case report: A girl aged 3 years and 10 months, who was admitted due to acute ataxia. Some of the more striking features in the patient's personal history include psychomotor retardation and a family history of suspected GS in the mother as a result of a maxillary cyst. An examination revealed macrocephaly with a prominent forehead and hypertelorism, as well as nevus. A genetic study for GS was requested, in which mutation c.930delC was detected in exon 6 of the PTCH1 gene in heterozygosis.
    Conclusions: In GS there is an increase in the likelihood of developing basal cell carcinomas and strict dermatological monitoring is necessary. A clinical neurological follow-up and also magnetic resonance imaging scans are needed for an early diagnosis of intracranial tumours, especially in the case of medulloblastomas. Odontogenic keratocysts, other skin disorders, and cardiac and ovarian fibromas are characteristic, as are skeletal abnormalities, which require regular clinical and neuroimaging controls and treatment if needed, but radiation must be avoided. GS is a rare disorder, but it must be suspected in the presence of characteristic alterations. It requires a multidisciplinary follow-up, and it is also necessary to establish a protocol on how to act so as to allow early diagnosis and treatment of the potentially severe complications deriving from this disease.
    MeSH term(s) Adult ; Basal Cell Nevus Syndrome/diagnosis ; Basal Cell Nevus Syndrome/genetics ; Child, Preschool ; Developmental Disabilities/genetics ; Exons/genetics ; Female ; Heterozygote ; Humans ; Hypertelorism/genetics ; Intellectual Disability/genetics ; Maxillary Neoplasms/genetics ; Megalencephaly/genetics ; Patched Receptors ; Patched-1 Receptor ; Receptors, Cell Surface/deficiency ; Receptors, Cell Surface/genetics ; Sequence Deletion
    Chemical Substances PTCH1 protein, human ; Patched Receptors ; Patched-1 Receptor ; Receptors, Cell Surface
    Language Spanish
    Publishing date 2014-03-24
    Publishing country Spain
    Document type Case Reports ; Journal Article
    ZDB-ID 1468278-3
    ISSN 1576-6578 ; 0210-0010
    ISSN (online) 1576-6578
    ISSN 0210-0010
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  10. Article ; Online: Estudio de las epilepsias según la edad de inicio, controladas durante 3 años en una unidad de neuropediatría de referencia regional.

    Ochoa-Gómez, Laura / López-Pisón, Javier / Lapresta Moros, Carlos / Fuertes Rodrigo, Cristina / Fernando Martínez, Ruth / Samper-Villagrasa, Pilar / Monge-Galindo, Lorena / Peña-Segura, José Luis / García-Jiménez, María Concepción

    Anales de pediatria (Barcelona, Spain : 2003)

    2017  Volume 86, Issue 1, Page(s) 11–19

    Abstract: Objective: A study of epilepsy, according to the age at onset of the crisis and its causes, monitored by a Paediatric Neurology Unit over a period of three years.: Patients and methods: Historical cohorts study was conducted by reviewing the ... ...

    Title translation A study of epilepsy according to the age at onset and monitored for 3 years in a regional reference paediatric neurology unit.
    Abstract Objective: A study of epilepsy, according to the age at onset of the crisis and its causes, monitored by a Paediatric Neurology Unit over a period of three years.
    Patients and methods: Historical cohorts study was conducted by reviewing the Paediatric Neurology medical records data base of epileptic children followed-up from 1 January 2008 to 31 December 2010.
    Results: A total of 4,595 children were attended during the study period. The diagnosis of epilepsy was established in 605 (13.17%): 277 (45.79%) symptomatic, 156 (25.79%) idiopathic, and 172 (28.43%) with cryptogenic epilepsy. Absence epilepsy and benign childhood epilepsy with centro-temporal spikes are the idiopathic epileptic syndromes most prevalent, and the most prevalent symptomatic epilepsies are prenatal encephalopathies. More than one-quarter (26.12%) of epilepsies began in the first year of life, and 67.72% were symptomatic. Refractory epilepsy was observed in 25.29%, 42.46% with cognitive impairment, 26.45% with motor involvement, and 9.92% with an autism spectrum disorder, being more frequent at an earlier age of onset.
    Conclusions: The absence of a universally accepted classification of epileptic syndromes makes tasks like this difficult, starting with the terminology. A useful classification would be aetiological, with two groups: a large group with established aetiology, or very likely genetic syndromes, and another with no established cause. The age of onset of epilepsy in each aetiological group helps in the prognosis, which is worsened by refractoriness and associated neurodevelopmental disorders, and are generally worse at an earlier onset and in certain aetiologies.
    Language Spanish
    Publishing date 2017-01
    Publishing country Spain
    Document type Journal Article ; English Abstract
    ISSN 1695-9531
    ISSN (online) 1695-9531
    DOI 10.1016/j.anpedi.2016.05.002
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