Vestibular Function in Pendred Syndrome: Intact High Frequency VOR and Saccular Hypersensitivity

OBJECTIVE: Although Pendred syndrome involves anatomical abnormalities in the vestibular system and patient-perceived dizziness, the literature on vestibular function is scarce. The objective was to evaluate objective vestibular function in patients with PS using the video head impulse test (VHIT) and the cervical vestibular evoked myogenic potential (cVEMP) test, assessing the high frequency vestibulo-ocular reflex (VOR) and the saccular function, respectively.

METHODS: Twenty-six subjects (52 ears) with Pendred Syndrome and severe-to-profound hearing loss (cochlear implant candidacy) were studied retrospectively. Main outcome measures were VHIT VOR gain, refixation saccades, cVEMP stimulus thresholds and amplitudes.

RESULTS: In total, 4 of 52 ears (8%) had pathological VHIT outcomes (2 ears with low VHIT gain and 2 ears with saccades). The mean VHIT gain value was 0.96 (range 0.63-2.02). No patients had complete VOR loss. CVEMP responses were present in 76% of tested ears and absent in 24%. The mean cVEMP amplitude value was 192 μV. Absence of cVEMP response was associated with the presence of VHIT saccades (p = 0.038) and advanced age (rs = -0.34; p < 0.05). cVEMP amplitude was correlated with VHIT gain (rs = 0.46; p < 0.001).

CONCLUSION: Despite dysmorphic vestibular anatomy and severe loss of hearing, the VHIT VOR function is normal in patients with Pendred Syndrome. However, saccular function appears to be abnormally sensitive, as documented by low cVEMP thresholds and high amplitudes, which agrees with a "third window" effect secondary to the large vestibular aqueduct.