Fluctuant, progressive hearing loss associated with Meniere like vertigo in three patients with the Pendred syndrome

Objective: To evaluate vestibular and long-term audiometric findings in pat ients with Pendred syndrome. Study design: Retrospective analysis of long-t erm clinical data. Setting: University hospital department. Patients: Three patients with Pendred syndrome caused by a mutation in the SLC26A4 gene. M ethods: Perchlorate discharge test, mutation analysis of the SLC26A4 gene, MR imaging of temporal bones, vestibular function test (in two cases) and s erial audiometry. A saturation hyperbola with onset age was fitted to the a udiometric threshold-on-age data using a nonlinear regression method. The r esidues remaining after regression were analyzed in a correlation analysis to detect significant ipsilateral or contralateral cofluctuation. Results: All three patients had a mutation in the SLC26A4 gene and bilateral enlarge d vestibular aqueduct: two of them had a positive perchlorate discharge tes t but in one of two siblings this test was negative. Hearing loss was signi ficantly progressive with significant ipsilateral and contralateral cofluct uation in all evaluable cases, combined with episodes of Meniere like verti go in two cases. The episodes of vertigo are as seen in Meniere disease. On e case had unilateral caloric areflexia and one had bilateral vestibular hy poreflexia, proven to be progressive in a repeat examination. Conclusions: Patients with Pendred syndrome may exhibit progressive and fluctuant hearin g loss with episodes of vertigo. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.