Presentation
Bilateral sensironeural hearing loss.
Patient Data
Bilateral frontal parasagittal polymicorgyri. Corpus callosum dysgenesis with parallel lateral ventricles, small frontal horns, colpocephaly, asymmetrical ventricular enlargement and interhemispheric arachnoid cyst. Bilateral cerebellar dysplasia with abnormal cerebellar folia.
Normal signal of the 7th and 8th nerves on both sides.
Normal inner ear structures.
Normal CT scan of the petrous bones.
Case Discussion
The case shows the typical clinical presentation (bilateral sensorineural hearing loss) and typical radiographic features of a very rare disease (Chudley-McCullough syndrome), with cerebellar dysplasia, small frontal horns, colpocephaly, corpus callosal agenesis, bilateral parasagittal polymicrogyri.
Chudley-McCullough syndrome is an extremely rare disorder with an estimated prevalence of less than 1 in 1 million. It has been linked to homozygous inactivating mutations in the the gene encoding G-protein signalling modulator 2 (GPSM2). It's characterised by early-onset sensorineural hearing loss and a distinctive combination of structural brain abnormalities, with relative preservation of psychomotor development.
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