Cochlear deafness in a Chinese family with Fechtner's syndrome.

Abstract

Objective: To identify the nature of the hearing impairment in the members of a Chinese family with Fechtner's syndrome.

Study design: Retrospective case review.

Setting: Tertiary referral center.

Patients: A Chinese family with a variant of Alport's syndrome: high-tone sensorineural hearing loss, proteinuria, macrothrombocytopenia, and ocular disease.

Interventions: The diagnosis of Fechtner's syndrome was confirmed by the characteristic ultrastructure of the Döhle-like inclusion bodies in the neutrophils of the mother and her three children. Pure-tone audiometry, evoked response audiometry (ERA), and distortion product otoacoustic emissions (DPOAE) were performed in two subjects to investigate the hearing impairment.

Main outcome measure: The parameters of the ERA and DPOAEs were correlated.

Results: In both subjects, the ERA was within normal limits, and there were no measurable DPOAEs in frequencies >2 kHz.

Conclusion: The hearing loss in Fechtner's syndrome is cochlear rather than neural.