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.
Keywords
Chudley–McCullough syndrome - genetic syndrome - neuroradiology
