Diagnosis of osteopetrosis in bilateral congenital aural atresia: Turning point in treatment strategy

Abstract

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.