Journal of Pediatric Neurology 2022; 20(02): 115-120
DOI: 10.1055/s-0041-1731411
Case Report

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

Leonardo Furtado Freitas
1   Neuroradiology Department, Beneficência Portuguesa de São Paulo Hospital, São Paulo, Brazil
Gabriel Santaterra Barros
2   Pontifical Catholic University of Campinas, São Paulo, Brazil
2   Pontifical Catholic University of Campinas, São Paulo, Brazil
Pablo Picasso de Araújo Coimbra
3   Neuroradiology Department, Antônio Prudente Hospital Fortaleza, São Paulo, Brazil
Charles Marques Lourenço
4   Neurogenetic Department, State University of São Paulo, São Paulo, Brazil
Paula Mendes Ferreira
5   Pediatric Neurologist Department, State University of São Paulo - Ribeirão Preto, São Paulo, Brazil
› Author Affiliations


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.

Publication History

Received: 10 February 2021

Accepted: 07 May 2021

Article published online:
08 July 2021

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