Chudley-McCullough syndrome: A report of a rare syndromic sensorineural hearing loss

Chudley-McCullough syndrome (CMS) is a rare autosomal recessive disorder. It is characterized by the association of early-onset sensorineural hearing loss and typical brain malformations, in contrast with preserved or only mildly affected psychomotor development. The first cases were reported in 1997 by Chudley et al. in a brother and sister born to consanguineous parents. It was not until 2012 that Doherty et al. identified mutations in the GPSM2 gene (G-protein signaling modulator 2) as the cause of CMS. We present the case of CMS in a 3-year-old girl with bilateral sensorineural deafness and characteristic brain malformations on MRI (callosal splenium agenesis, colpocephaly, interhemispheric cyst, cerebellar dysplasia, midline polymicrogyria and gray matter heterotopia).