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

Diagnosis: XXX

 

Case 1. Posterior Reversible Encephalopathy Syndrome (PRES)

•PRES is a well established diagnosis of neurotoxicity that has a distinct pattern of vasogenic edema
•The edema and clinical symptoms usually resolve once the cause has been identified and the proper treatment is given
•The most popular theory is hypertension that exceeds the limits of autoregulation and causes hyperperfusionand edema1
•Atypical findings of leptomeningeal enhancement and reduced diffusion
•Four major patterns can be seen2:
–1) holohemispheric(23%)
–2) Superior frontal sulcal(27%)
–3) Dominant parieto-occipital (22%)
–4) Partial or asymmetric expression of the above 3 patterns