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dc.contributor.authorRivas Arribas, Lucía 
dc.contributor.authorBlanco Barca, Manuel Oscar 
dc.contributor.authorTORREIRA BANZAS, CRISTINA 
dc.contributor.authorRepáraz Andrade, Alfredo 
dc.contributor.authorMELCON CRESPO, CRISTINA 
dc.contributor.authorAmado Puentes, Alfonso 
dc.date.accessioned2017-11-10T13:00:58Z
dc.date.available2017-11-10T13:00:58Z
dc.date.issued2017
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pubmed/?term=28898323es
dc.identifier.urihttp://hdl.handle.net/20.500.11940/9861
dc.description.abstractPontocerebellar 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. 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. This is a female infant of 7-month at diagnosis, without family or obstetric history of interest, head circumference at birth -1.5 standard deviations (SD). She had little weight and growth in head circumference progression. In addition, physical examination revealed no fixating gaze, hypotonia with preserved deep tendon reflexes. Progressively developed refractary seizures. Brainsteam Auditory Evoked Potential demonstrated involvement of pontomesencefphalic ways and neuroimaging Pontocerebellar hypoplasia. The genetic study (aCGH) showed heterozygous deletion on the X chromosome, affecting the CASK gene. Given the wide differential diagnosis proposed at the PCH, new cytogenetic techniques have improved the classification of HPC and in some cases establish their etiology, so in these cases can provide appropriate genetic counseling to families.es
dc.language.isospaes
dc.rightsAtribución 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subject.meshNeurodegenerative Diseases *
dc.subject.meshCerebellum *
dc.subject.meshIntellectual Disability *
dc.subject.meshPsychomotor Disorders *
dc.subject.meshMicrocephaly *
dc.titleHipoplasia pontocerebelosa secundaria a deleción en el gen CASK. Caso Clínicoes
dc.title.alternativePontocerebellar hypoplasia secondary to CASK gene deletion: Case reportes
dc.typeArtigoes
dc.identifier.doi10.4067/S0370-41062017000400014
dc.identifier.essn0717-6228
dc.identifier.pmid28898323
dc.issue.number4es
dc.journal.titleRevista chilena de pediatriaes
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Pontevedra e O Salnés - Complexo Hospitalario Universitario de Pontevedra::Pediatríaes
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Vigo - Complexo Hospitalario Universitario de Vigo::Pediatríaes
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Vigo - Complexo Hospitalario Universitario de Vigo::Análise clínicoses
dc.page.initial529es
dc.page.final533es
dc.relation.publisherversionhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0370-41062017000400014&lng=en&nrm=iso&tlng=enes
dc.rights.accessRightsopenAccesses
dc.subject.decsenfermedades neurodegenerativas *
dc.subject.decsdiscapacidad intelectual *
dc.subject.decsmicrocefalia *
dc.subject.decstrastornos psicomotores *
dc.subject.decscerebelo *
dc.subject.keywordPontocerebellar hypoplasiaes
dc.subject.keywordenfermedad genéticaes
dc.subject.keywordretraso psicomotores
dc.subject.keywordsindrome de Westes
dc.subject.keywordEnfermidade xenéticaes
dc.typefidesArtigo Científico (inclue Orixinal, Orixinal breve, Revisión Sistemática e Meta-análisis)es
dc.typesophosArtículo Originales
dc.volume.number88es


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Atribución 4.0 Internacional
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