Case report: Auditory neuropathy in systemic mast cell activation disease

A 23-year-old female patient with severe familial systemic mast cell activation disease (MCAD) reported fluctuating hearing impairment and tinnitus which both exacerbated when she had mast cell activation episodes. Detailed audiological testing revealed a strong auditory neuropathy/central hearing impairment phenotype with normal hearing thresholds and poor speech discrimination. Intact otoacoustic emissions indicated preserved active cochlear amplification while stapedial reflexes and auditory brainstem responses were absent. We conclude that neural damage due to MCAD can also affect the auditory system and induce a strong neural hearing loss phenotype. Management should rely on the correct diagnosis and treatment of MCAD to alleviate symptoms and slow disease progression.