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.