Otological aspects and surgical outcome in a consanguineous family with a novel ANKH gene mutation

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Title:	Otological aspects and surgical outcome in a consanguineous family with a novel ANKH gene mutation
Author(s):	Thomeer, H.G.X.M. ; Morava, E. ; Verbist, B.M.; Cremers, C.W.R.J.
Publication year:	2013
Source:	International Journal of Pediatric Otorhinolaryngology, vol. 77, iss. 7, (2013), pp. 1152-1157
ISSN:	0165-5876
DOI:	https://doi.org/10.1016/j.ijporl.2013.04.028
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/140538
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Subject:	DCN PAC - Perception action and control IGMD 4: Glycostation disorders ONCOL 5: Aetiology, screening and detection Tijdelijke code tbv inlezen publicaties Radboudumc - Alleen voor gebruik door Radboudumc
Organization:	Otorhinolaryngology Paediatrics - OUD tm 2017 Radiology
Journal title:	International Journal of Pediatric Otorhinolaryngology
Volume:	vol. 77
Issue:	iss. 7
Page start:	p. 1152
Page end:	p. 1157
Abstract:	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 20dB was noted, with a residual air-bone gap of between 6 and 35dB (follow-up between 4 and 67 months). The sensorineural component of the hearing impairment varies greatly, between 4 and 23dB, 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.