Click the arrow to see the next slide with the correct interpretation.
5-Year-Old with Bilateral Severe Conductive Hearing Loss and Bilateral Branchial and Preauricular Fistulas
This case features a 5-year-old patient presenting with bilateral severe conductive hearing loss and bilateral branchial and preauricular fistulas, ultimately diagnosed with Branchio-Oto-Renal (BOR) syndrome.
Imaging overview:
Axial NECT of the temporal bones bilaterally demonstrates anteriorly offset, unwound cochleae with small apical and middle turns that are anteriorly offset and separated from the basal turn, yielding a turn alignment ratio (TAR) of less than 0.476 per Juliano and D’Arco et al calculation methods. Coronal T1 post-contrast fat-saturated MRI confirms an infected pre-auricular fistula on the left side.
Clinical insight:
Branchio-Oto-Renal syndrome is a congenital disorder characterized by the combination of branchial anomalies, hearing loss, and renal dysplasia. The hallmark imaging finding is the “unwound” or “offset” cochlea, in which the apical and middle turns are anteriorly offset and separated from the basal turn. Additional features include malformed pinna, external auditory canal atresia or stenosis, branchial cysts and fistulas, pre-auricular cysts and fistulas, and renal dysplasia. Patients typically present with moderate-to-severe conductive hearing loss and mild sensorineural hearing loss. Known genetic associations include EYA-1 and SIX-1 mutations, though some patients have no identifiable genetic variant.
Case courtesy of Dr. Pamela Nguyen, DO,
Columbia University Irving Medical Center