Vestibular function in adult patients with primary ciliary dyskinesia

Abstract

<b>Background:</b> Primary Ciliary Dyskinesia (PCD) is a genetic and predominantly motile respiratory ciliopathy lacking normal ciliary assembly, ultrastructure and function causing impaired muco-ciliary clearance. Clinical manifestations include oto-sino-pulmonary symptoms, subfertility and situs inversus. However, another important role of motile cilia is found in the development of otolith organs in zebrafish, although this has yet to be evaluated in humans with PCD. <b>Aims:</b> we examined the vestibular function in patients with PCD using a relevant armamentarium of validated and standardized clinical tests to explore any abnormalities in function. <b>Methods:</b> this was a single centre cross sectional, exploratory study in patients with PCD. Vestibular, inner and middle ear assessments, including cervical vestibular evoked myogenic potentials (cVEMP), video head impulse test (vHIT), audiometry, tympanometry, and complemented with the validated Dizziness Handicap Inventory (DHI) questionnaire were performed. <b>Results:</b> 10 patients aged 22–67 yrs, median 29, were recruited. Six patients had affected saccule-function with uni- or bilateral absent potential in the cVEMP test. No patients had pathological vHIT. One patient had mild vertigo according to the DHI questionnaire. Four patients had a minor uni- or bilateral conductive hearing loss as the result of otitis media with effusion. <b>Conclusion:</b> more than half of patient in this small exploratory study had affected saccule function. All had normal function of the semicircular canals, suggesting that a possible affection of the vestibular apparatus should be sought in the otolith organs. Our findings need confirmation and to be further explored in a larger population of patients.