[MRI of the cerebellopontine angle in patients with cleidocranial dysostosis].

PURPOSE: Cleidocranial dysostosis (CCD) is an autosomal dominant bone disorder in which deafness is common secondary to malformation of the middle ear structures. The study aimed at MRI evaluation of the cerebellopontine angle 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 aged between 8 and 46 years) was performed. In two patients hearing disorders were present. The examinations encompassed multi-planar spinecho sequences of the cerebellopontine angle in 3-mm slice thickness before and after administration of contrast medium.

RESULTS

The clinically most conspicuous female patient (hearing loss, ataxia, headache) showed a strongly contrast-enhancing tumor in MRI that was histologically proved to be an acoustic schwannoma. 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.