Clinical Features in a Case of Osteopetrosis; Mild Autosomal-Dominant Type

Osteopetrosis is a rare hereditary disorder of bone development due to a defect in bone resorption (dysfunction of osteoclast). We report a 40-year-old man with autosomal dominant osteopetrosis (radiological type I). All of his siblings died of "bone disease" in the fifth decade of life. His radiological findings and family history agree with those of the autosomal dominant type of osteopetrosis. The otoneurological problems were bilateral combined hearing loss, disequilibrium and right facial paralysis. Sensorineural hearing loss, floating sensation and facial paralysis in this case were suggested to have been caused by nerve compression in the internal auditory canal or traction of the nerves as a result of bone deformity around the internal auditory canal.