Journal article
Chudley–McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis
Journal of pediatric neurology, Vol.20(2), pp.115-120
04/2022
DOI: 10.1055/s-0041-1731411
Abstract
Abstract
Chudley–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 described the case of a 2-year-old male child 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.
Details
- Title: Subtitle
- Chudley–McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis
- Creators
- Leonardo Furtado Freitas - Beneficência Portuguesa de São PauloGabriel Santaterra Barros - Pontifícia Universidade Católica de CampinasEnrico Affonso Barletta - Universidade Estadual de Campinas (UNICAMP)Pablo Picasso de Araújo Coimbra - Neuroradiology Department, Antônio Prudente Hospital Fortaleza, São Paulo, BrazilCharles Marques Lourenço - Universidade de São PauloPaula Mendes Ferreira - Universidade de São Paulo
- Resource Type
- Journal article
- Publication Details
- Journal of pediatric neurology, Vol.20(2), pp.115-120
- DOI
- 10.1055/s-0041-1731411
- ISSN
- 1304-2580
- eISSN
- 1305-0613
- Publisher
- Georg Thieme Verlag KG
- Language
- English
- Date published
- 04/2022
- Academic Unit
- Radiology
- Record Identifier
- 9984697717902771
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