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Background: Chudley-McCullough syndrome is a rare autosomal recessive disorder characterized by congenital bilateral sensorineural hearing loss, partial corpus callosum agenesis, colpocephaly with a right-sided tendency and other brain abnormalities, such as an arachnoid cyst. Main findings: In this case report we present two adult sisters with asymmetrical enlarged ventricles who were treated surgically under the assumption of “hydrocephalus”, yielding no clinical benefit. They were diagnosed subsequently with the Chudley-McCullough syndrome. The enlarged ventricles in this syndrome are secondary to a developmental malformation called colpocephaly, instead of a true hydrocephalus based on a cerebrospinal fluid circulation disturbance. Conclusion: The ventriculomegaly in Chudley-McCullough syndrome is secondary to colpocephaly and not caused by a true hydrocephalus and thus we recommend conservative follow-up without cerebrospinal fluid diversion.

Colpocephaly in Chudley-McCullough Syndrome