A vestibular phenotype for Waardenburg syndrome?

Objective: To investigate vestibular abnormalities in subjects with Waardenburg syndrome.

Study Design: Retrospective record review.

Setting: Tertiary referral neurotology clinic.

Subjects: Twenty-two adult white subjects with clinical diagnosis of Waardenburg syndrome (10 type I and 12 type II).

Interventions: Evaluation for Waardenburg phenotype, history of vestibular and auditory symptoms, tests of vestibular and auditory function.

Main Outcome Measures: Results of phenotyping, results of vestibular and auditory symptom review (history), results of vestibular and auditory function testing.

Results: Seventeen subjects were women, and 5 were men. Their ages ranged from 21 to 58 years (mean, 38 years). Sixteen of the 22 subjects sought treatment for vertigo, dizziness, or imbalance. For subjects with vestibular symptoms, the results of vestibuloocular tests (calorics, vestibular autorotation, and/or pseudorandom rotation) were abnormal in 77%, and the results of vestibulospinal function tests (computerized dynamic posturography, EquiTest) were abnormal in 57%, but there were no specific patterns of abnormality. Six had objective sensorineural hearing loss. Thirteen had an elevated summating/action potential (>0.40) on electrocochleography. All subjects except those with severe hearing loss (n = 3) had normal auditory brainstem response results.

Conclusion: Patients with Waardenburg syndrome may experience primarily vestibular symptoms without hearing loss. Electrocochleography and vestibular function tests appear to be the most sensitive measures of otologic abnormalities in such patients.