Diagnosis: Branchio-oto-renal syndrome
Clinical presentation: Both conductive and sensorineural hearing loss, ear tags, branchial fistulas, and renal abnormalities.
Etiology: Mutations EYA1, SIX5, and SIX1 genes
Findings: Characteristic unwound cochlea with hypoplastic middle and apical turns. The abnormal apical and middle turns are offset laterally with that portion of the cochlea projecting lateral to the midpoint of the inferior basal turn.
Discussion: Patients need CT imaging as well to assess for etiology of conductive hearing loss. Ossicular fixations are common. The Eustachian tube in dilated, funnel shaped IAC, and medial displacement of labyrinthine facial nerve are also seen.
Propst EJ et al. Temporal bone finding on computed tomography imaging in branchio-oto-renal syndrome. Laryngocope 2005; 115: 1855
Hsu A, et al. The unwound cochlea: a specific imaging biomarker of branchio-oto-renal syndrome. AJNR 2018
Case 1. Posterior Reversible Encephalopathy Syndrome (PRES)