Chudley-McCullough Syndrome

Abstract

Chudley-McCullough syndrome (CMS), an autosomal recessive condition first reported by Chudley et al., in 1997, comprises profound sensorineural hearing loss and specific brain abnormalities. The hearing loss may be congenital or early onset. Brain abnormalities are striking, but despite these brain malformations, individuals with CMS do not present significant neurodevelopmental abnormalities. Recently, the cause of CMS has been shown to be the inactivating mutations in G protein signaling modulator 2. We aimed to present a 36-year-old male who has the characteristic clinical and neuroimaging findings of CMS.

Keywords: Cerebellar dysplasia; Chudley-McCullough syndrome; corpus callosum hypogenesis; sensorineural hearing loss.

Figure 1

Sagittal fluid-attenuated inversion recovery image delineates corpus callosum hypogenesis. The rostrum, genu, and splenium are absent while remnant of the body seems as a short thin line. Note polymicrogyria in the frontal lobe.

Figure 2

Corpus callosum is absent in this coronal T2-weighted section through thalami. Lateral ventricles are slit like and small in caliper. They are upturned (black arrow) and there are Probst bundles (arrowhead), secondary to callosal hypogenesis. Note bilateral periventricular nodular gray matter heterotopia (white arrows).

Figure 3

Axial T1-weighted image shows bifrontal parasagittal polymicrogyria (black arrows) and bilateral periventricular nodular gray matter heterotopia (white arrows).

Figure 4

Subsequent axial T2-weighted images clearly delineate bilateral periventricular gray matter heterotopia (white arrows). Note bifrontal parasagittal polymicrogyria (a and b).

Figure 5

Axial T2-weighted image demonstrates abnormal cerebellar foliation and fissuration with loss of the normal architecture in the inferior aspect of the cerebellar hemispheres, consistent with cerebellar dysplasia.