Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis

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MetadadosDescriçãoIdioma
Autor(es): dc.contributorBeneficência Portuguesa de São Paulo Hospital-
Autor(es): dc.contributorUniversidade Estadual de Campinas (UNICAMP)-
Autor(es): dc.contributorAntônio Prudente Hospital Fortaleza-
Autor(es): dc.contributorUniversidade de São Paulo (USP)-
Autor(es): dc.creatorFreitas, Leonardo Furtado-
Autor(es): dc.creatorBarros, Gabriel Santaterra-
Autor(es): dc.creatorBarletta, Enrico Affonso-
Autor(es): dc.creatorDe Araújo Coimbra, Pablo Picasso-
Autor(es): dc.creatorLourenço, Charles Marques-
Autor(es): dc.creatorFerreira, Paula Mendes-
Data de aceite: dc.date.accessioned2025-08-21T17:42:53Z-
Data de disponibilização: dc.date.available2025-08-21T17:42:53Z-
Data de envio: dc.date.issued2022-04-29-
Data de envio: dc.date.issued2022-04-29-
Data de envio: dc.date.issued2020-12-31-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1055/s-0041-1731411-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/231476-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/231476-
Descrição: dc.descriptionChudley-McCullough syndrome (CMS) is an autosomal recessive condition first described in 1997. The most striking features of this syndrome include sensorineural hearing loss, craniofacial disproportion, and brain abnormalities such as agenesis of the corpus callosum, polymicrogyria, ventriculomegaly, and changes in cerebellar architecture. We describe the case of a 2-year-old patient with CMS confirmed by genetic testing (GPSM2 gene mutation), who presented with global developmental delays and characteristic neuroimaging features including arachnoid cysts, agenesis of the corpus callosum, cerebellar dysplasia, and frontal heterotopia. Early recognition of this rare clinical syndrome may reduce the diagnostic odyssey and ultimately improve the quality of life for affected children. This report will focus on unique clinical and radiographic features of CMS.-
Descrição: dc.descriptionNeuroradiology Department Beneficência Portuguesa de São Paulo Hospital-
Descrição: dc.descriptionPontifical Catholic University of Campinas São Paulo-
Descrição: dc.descriptionNeuroradiology Department Antônio Prudente Hospital Fortaleza-
Descrição: dc.descriptionNeurogenetic Department State University of São Paulo-
Descrição: dc.descriptionPediatric Neurologist Department State University of São Paulo-Ribeirão Preto-
Idioma: dc.languageen-
Relação: dc.relationJournal of Pediatric Neurology-
???dc.source???: dc.sourceScopus-
Palavras-chave: dc.subjectChudley-McCullough syndrome-
Palavras-chave: dc.subjectgenetic syndrome-
Palavras-chave: dc.subjectneuroradiology-
Título: dc.titleChudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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