A vestibular phenotype for Waardenburg syndrome?

Objective: To investigate vestibular abnormalities in subjects with Waarden burg syndrome. Study Design: Retrospective record review. Setting: Tertiary referral neurotology clinic. Subjects: Twenty-two adult white subjects with clinical diagnosis of Waarde nburg syndrome (10 type I and 12 type II). Interventions: Evaluation for Wa ardenburg phenotype, history of vestibular and auditory symptoms, tests of vestibular and auditory function. Main Outcome Measures: Results of phenotyping, results of vestibular and au ditory symptom review (history), results of vestibular and auditory functio n testing. Results: Seventeen subjects were women. and 5 were men. Their ages ranged f rom 21 to 58 years (mean, 38 years). Six teen of the 22 subjects sought tre atment for vertigo, dizziness, or imbalance. For subjects with vestibular s ymptoms, the results of vestibuloocular tests (calorics, vestibular autorot ation, and/or pseudorandom rotation) were abnormal in 77%, and the results of vestibulospinal function tests (computerized dynamic posturography, Equi Test) were abnormal in 57%, but there were no specific patterns of abnormal ity. Six had objective sensorineural hearing loss. Thirteen had an elevated summating/action potential (>0.40) on electrocochleography. All subjects e xcept those with severe hearing loss (n = 3) had normal auditory brainstem response results. Conclusion: Patients with Waardenburg syndrome may experience primarily ves tibular symptoms without hearing Loss. Electrocochleography and vestibular function tests appear to be the most sensitive measures of otologic abnorma lities in such patients.