Audiologic and otolaryngologic findings in progeria: case report

Progeria is a rare syndrome, with an estimated incidence of 1 per 250,000 births. Although children with progeria have the appearance of premature aging or senility, the term is misleading because reported cases of progeria have not manifested most physical or biochemical aspects of old age. Many children with progeria appear normal at birth and then progressively, and rather rapidly, develop the characteristic features during early childhood. Although first described in the 1880s, only approximately 100 cases of progeria are reported in the international literature. The single case study of hearing in progeria, which appeared in 1965, is limited to pure-tone and speech audiometry findings. We report the results of otolaryngologic examination and pure-tone, speech, immittance, and auditory brainstem response (ABR) audiometry for a 5-year-old female with progeria. The patient had a mild-to-moderate, bilateral, conductive hearing loss. Immittance measurements were consistent with fixation of the ossicular chain and this was confirmed surgically. Mildly prolonged ABR wave I-V latencies suggest possible auditory central nervous system involvement.