Transmastoid Facial Nerve Decompression for Craniometaphyseal Dysplasia.

OBJECTIVE

We document the first successful transmastoid surgical treatment of facial nerve palsy for a patient with craniometaphyseal dysplasia (CMD), a rare genetic disease.

PATIENT: A 9-month-old girl with bilateral facial nerve palsies and conductive hearing loss. Genetic testing made a diagnosis of CMD, and imaging showed narrowing of the facial nerve canals and ossicular fixation.

INTERVENTION: Right transmastoid facial nerve decompression and ossicular chain reconstruction.

MAIN OUTCOME MEASURE: Facial nerve function (House-Brackmann grade).

RESULTS

Facial nerve function initially worsened, then improved within 12 months from House-Brackmann grade IV-V to grade III.

CONCLUSION

Surgical cranial nerve decompression of and ossicular chain reconstruction may be effective treatments for patients with CMD.