Hearing Loss in Malignant Infantile Osteopetrosis: A Case-Based Review

Osteopetrosis, or marble bone disease, is a rare genetic disease of bone resorption. It includes a clinically heterogeneous group of conditions that are characterized by increased bone density on radiographs due to a defect in osteoclasts. A most common feature of osteopetrosis of the temporal bone is hearing impairment. This case-based review describes the potential otologic and hearing manifestations of malignant infantile osteopetrosis. The hearing loss can be conductive, sensorineural, late-onset or relapsing. Once the diagnosis is made, referral to an ENT physician for hearing evaluation is indicated. Although otitis media with effusion is the most frequent cause of conductive hearing loss with autosomal recessive osteopetrotic patients, audiometry after tympanostomy tube placement to check for additional causes of hearing loss is highly recommended. As otological manifestations may worsen over time, accurate and regular follow-up by audiometry is necessary. According to our knowledge, this is the first case report in the literature of dehiscent jugular bulb in a patient with osteopetrosis. Cite this article as: De Cuyper E, De Cuyper C, Willems L, Casselman J, Dhooge I, Van Hoecke H. Hearing loss in malignant infantile osteopetrosis: A case-based review. J Int Adv Otol. 2021;17(6):551-558.