CASE HISTORY – November 2017

Hearing loss in patients with Osteogenesis Imperfecta. A case report and a literature overview

Authors: Evgenia Chetverikova, Maret Lepplaan, Priit Kasenõmm

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A 29-year-old female presented with sudden bilateral hearing loss. After initial examination the most likely diagnosis was idiopathic sudden hearing loss which usually occurs due to impairment of the inner ear with an unknown etiology. There was no history of previous head trauma, ear-surgery or use of ototoxic drugs. Pure tone audiometry demonstrated bilateral conductive hearing loss. Acute conductive hearing loss most often starts by affecting one ear and is usually caused by cerumen occlusion of the external auditory canal or otitis. However, as there were no significant changes at otoscopic observation these reasons were excluded. Acute bilateral conductive hearing loss is very rare in clinical practice. Absence of acoustic reflexes implies an impairment of ossicular chain movement. The most common reason for conductive hearing loss present with normal otoscopic view is otosclerosis. In this case, otosclerosis was excluded as it usually presents in 40-year-old women and is characterized by slowly progressive course. Our patient reported that she had been diagnosed with Osteogenesis imperfecta (OI). Hearing loss is a significant clinical feature in many patients with OI.

There are 32 families with history of OI in Estonia. OI is a hereditary disease, wich is characterized by a generalized connective tissue dysfunction and has a variable clinical presentation, including features such as increased susceptibility to bone fractures, skeletal deformities, blue sclera and hearing loss. Due to the low OI prevalence and its variability in hearing loss pattern it might be difficult to examine, treat and diagnoose hearing impairment in people with OI. The purpose of this article is to draw attention to the hearing impairment often occuring in OI patients and to describe treatment possibilities. Early diagnosis of OI is of the utmost importance since hearing loss usually begins as a conductive hearing loss with later development of a sensorineural component due to damage to the inner ear. Surgical treatment – stapedoplasty – is usually possible, but there are several anatomical implications that should be considered before surgery.