MRI of the cerebellopontine angle in patients with cleido-cranial dysostosis

MRI of the cerebellopontine angle in patients with cleidocranial dysostosis . Purpose: Cleidocranial dysostosis (CCD) is an autosomal dominant bone dis order in which deafness is common secondary to malformation of the middle e ar structures. The study aimed at MRI evaluation of the cerebellopontine an gle in 7 patients with a history of CCD - two generation spanned relatives. Material and methods: Cranial MRI in 7 patients with CCD (4 women/3 men ag ed between 8 and 46 years) was performed. In two patients hearing disorders were present. The examinations encompassed multi-planar spin-echo sequence s of the cerebellopontine angle in 3-mm slice thickness before and after ad ministration of contrast medium. Results: The clinically most conspicuous f emale patient (hearing loss, ataxia, headache) showed a strongly contrast-e nhancing tumor in MRI that was histologically proved to be an acoustic schw annoma. Concerning the other family members, no pathological findings were noted except for non-pneumatized mastoids. Conclusion: The first report of a patient with CCD and an acoustic schwannoma shows that in case of hearing loss in these patients also a retrocochlear cause must be considered.