A 4-year-old has bilateral hearing loss with excellent distortion product otoacoustic emissions but absent ABR waves and markedly poor speech discrimination out of proportion to audiometric thresholds. The MOST likely diagnosis is:

• A Auditory neuropathy spectrum disorder ✓
• B Bilateral congenital cholesteatoma
• C Bilateral enlarged vestibular aqueduct
• D Pendred syndrome

Explanation

The combination of preserved otoacoustic emissions (intact outer hair cells), absent or severely abnormal ABR (disrupted neural synchrony), and disproportionately poor speech understanding defines auditory neuropathy spectrum disorder. Common associations include hyperbilirubinemia, prematurity and OTOF gene mutations. In purely cochlear disorders such as enlarged vestibular aqueduct, OAEs would be absent once thresholds exceed 30 to 40 dB, which distinguishes them from this entity.

Reference: Cummings Otolaryngology: Head and Neck Surgery, 7th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.