Case Report
Copyright ©The Author(s) 2016. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Pediatr. May 8, 2016; 5(2): 228-233
Published online May 8, 2016. doi: 10.5409/wjcp.v5.i2.228
Diagnosis of osteopetrosis in bilateral congenital aural atresia: Turning point in treatment strategy
Ritu Verma, Manisha Jana, Ashu Seith Bhalla, Arvind Kumar, Rakesh Kumar
Ritu Verma, Manisha Jana, Ashu Seith Bhalla, Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi 110029, India
Arvind Kumar, Rakesh Kumar, Department of Otorhinolaryngology, All India Institute of Medical Sciences, New Delhi 110029 India
Author contributions: Verma R, Jana M and Bhalla AS contributed to image analysis and diagnosis making; Kumar A and Kumar R helped in clinical evaluation and reatment planning; all contributing authors participated in complete case analysis and writing of the manuscript.
Institutional review board statement: For case reports clearance from institutional review board is not required at our institution (all india institute of medical sciences).
Informed consent statement: Written informed consent was taken at the time of carrying all investigations and for use of the case details in academic activities reassuring that anonymity and confidentiality of the patient will be maintained.
Conflict-of-interest statement: All the authors have no conflicts of interests to declare.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Correspondence to: Ashu Seith Bhalla, MD, Professor, Department of Radiodiagnosis, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India.
Telephone: +91-98-68398805 Fax: +91-11-26594889
Received: October 27, 2015
Peer-review started: November 2, 2015
First decision: December 4, 2015
Revised: January 19, 2016
Accepted: March 9, 2016
Article in press: March 14, 2016
Published online: May 8, 2016

Aural atresia is a rare congenital malformation of the external and middle ear. There are several syndromic associations of this anomaly with those involving the first and second branchial arches. Occurrence of aural atresia with sclerosing skeletal dysplasia is unknown and has never been reported. The co-existence of a sclerosing dysplasia can make the surgical treatment in aural atresia difficult and risky; and the auditory improvement may not be as expected. Moreover, internal auditory canal narrowing and hence sensorineural hearing loss in sclerosing dysplasia might add to the already existing conductive hearing loss in such patients. In this case report we have described an unknown association of bilateral microtia with sclerosing skeletal dysplasia (autosomal dominant osteopetrosis) and clinical implications of these two conditions occurring together leading to a change in the management plan.

Keywords: Aural atresia, Osteopetrosis, Congenital hearing loss, Microtia

Core tip: Congenital aural atresia and microtia are one of the most challenging surgeries for an ear, nose, and throat surgeon. It is imperative to know when not to operate a patient. Improper patient selection may not benefit the patient in terms of hearing improvement rather it may further add to complications like chronic cavity infection and potential risk of facial nerve injury. Imaging plays an important role in preoperative evaluation and selection of appropriate surgical candidates. This case shows incidental detection of previously unsuspected osteopetrosis in a child having profound congenital hearing loss due to congenital bilateral aural atresia that posed difficulty in treatment and required change in management from surgery to bone anchored hearing aid.