Triple Rarity: Bilateral Complete Branchial Fistulae as a Manifestation of Branchio-Oto-Renal Syndrome

Abstract

Branchio-oto-renal (BOR) syndrome is a genetic disorder that presents with hearing loss, branchial anomalies, and renal malformations. Bilateral complete second branchial fistulae are exceptionally rare, with only a few cases described in the literature. We describe an eight-year-old boy with long-standing intermittent neck discharge, progressive hearing impairment, and bilateral preauricular sinuses. A family history of maternal hearing loss and preauricular pits heightened suspicion for a syndromic diagnosis. Audiometry confirmed mixed bilateral hearing loss, contrast-enhanced CT fistulography delineated bilateral complete second branchial fistulae coursing from the tonsillar fossae to the anterior borders of the sternocleidomastoid muscles. High-resolution temporal bone CT further demonstrated classic BOR findings, including unwound cochleae, ossicular fusion, funnel-shaped internal auditory canals, and a dilated vestibular aqueduct. The child was commenced on hearing aids and scheduled for surgical excision of the fistulae with ipsilateral tonsillectomy. This case highlights how careful clinical evaluation, supported by detailed cross-sectional imaging, not only enables accurate diagnosis of this rare presentation but also guides surgical planning and multidisciplinary management in BOR syndrome.