Cockayne syndrome--an audiologic and temporal bone analysis.

Cockayne's syndrome is a triad of dwarfism, retinal atrophy, and deafness. Over thirty cases have been presented in the literature. We have examined and audiometrically tested three patients (ages 13 to 17) with confirmed Cockayne's syndrome and have analyzed the temporal bones of another who died at age 24. To our knowledge this is the first reported temporal bone analysis of a patient with Cockayne's syndrome. Audiograms revealed bilateral symmetric sensorineural hearing loss that was greatest in the high frequencies. Temporal bone examinations revealed inner and outer hair cell losses in the basal turn of the cochlea with corresponding neuron losses in the spiral ganglion. We have found that the clinical and histopathologic features resemble those of presbycusis and conclude that this corresponds well with the generalized, rapid, premature aging process characteristic of this disease.