Related Experiment Videos
Cochlear deafness in a Chinese family with Fechtner's syndrome
1Department of Surgery, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, N.T.
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.