Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: the Chudley-McCullough syndrome

Abstract

We describe an Italian family in which two sisters have macrocephaly due to hydrocephalus, and sensorineural hearing loss in addition to other brain abnormalities demonstrated by Magnetic resonance imaging (MRI). The girls, born to healthy non-consanguineous parents, have borderline psychomotor development delay (probably due to hearing defect) and minor dysmorphisms. The clinical picture fits the Chudley-McCullough syndrome, an autosomal recessive condition, to date described in only five families. Our data, in particular the neuroradiological findings, include all brain anomalies variably reported in previous works (hydrocephalus, corpus callosum partial agenesis, interhemispheric cyst, cerebral and cerebellar cortex dysplasia), thus illustrating the full phenotype of the syndrome.