OBJECTIVES: To report the hearing impairment in a new autosomal recessive metabolic disorder due to a mutation in the ANKH gene and to report the outcomes of exploratory tympanotomy. STUDY DESIGN: Retrospective chart study. SETTING: Tertiary referral center. PATIENTS: One large consanguineous family was examined. Three patients underwent exploratory tympanotomy. INTERVENTION: Exploratory tympanotomies in three patients. MAIN OUTCOME MEASURES: Medical and otological histories; postoperative hearing outcomes. RESULTS: In the patients who received tympanotomies, a postoperative hearing gain of between 5 and 20 dB was noted, with a residual air-bone gap of between 6 and 35 dB (follow-up between 4 and 67 months). The sensorineural component of the hearing impairment varies greatly, between 4 and 23 dB, and this factor might also affect the final hearing outcome. CONCLUSIONS: Exploratory tympanotomy might improve the hearing outcome in patients with this syndrome and therefore surgery has a limited audiometric benefit in general. Based on anatomical findings, a congenital origin for the ossicular chain anomaly seems likely. It remains unclear whether the sensorineural component of the hearing impairment is progressive and this should be investigated further.
OBJECTIVES: To report the hearing impairment in a new autosomal recessive metabolic disorder due to a mutation in the ANKH gene and to report the outcomes of exploratory tympanotomy. STUDY DESIGN: Retrospective chart study. SETTING: Tertiary referral center. PATIENTS: One large consanguineous family was examined. Three patients underwent exploratory tympanotomy. INTERVENTION: Exploratory tympanotomies in three patients. MAIN OUTCOME MEASURES: Medical and otological histories; postoperative hearing outcomes. RESULTS: In the patients who received tympanotomies, a postoperative hearing gain of between 5 and 20 dB was noted, with a residual air-bone gap of between 6 and 35 dB (follow-up between 4 and 67 months). The sensorineural component of the hearing impairment varies greatly, between 4 and 23 dB, and this factor might also affect the final hearing outcome. CONCLUSIONS: Exploratory tympanotomy might improve the hearing outcome in patients with this syndrome and therefore surgery has a limited audiometric benefit in general. Based on anatomical findings, a congenital origin for the ossicular chain anomaly seems likely. It remains unclear whether the sensorineural component of the hearing impairment is progressive and this should be investigated further.