Progressive Conductive Hearing Loss in Osteogenesis Imperfecta (Lobstein Disease): A Case Report.

BACKGROUND

Osteogenesis imperfecta (OI), also known as Lobstein disease, is a rare inherited connective tissue disorder characterized by bone fragility and various extra-skeletal manifestations. Hearing loss is a frequent but often underestimated complication that may significantly impair quality of life.

CASE PRESENTATION: We report the case of a 34-year-old woman with clinically established osteogenesis imperfecta type I who developed progressive bilateral conductive hearing loss over a three-year period. Audiological evaluation revealed symmetrical conductive impairment with preserved speech discrimination. High-resolution temporal bone computed tomography (CT) demonstrated diffuse otic capsule demineralization, bilateral stapes footplate thickening, and atypical crown-shaped hypodense lesions surrounding the cochlea.

CONCLUSION

Early recognition of hearing loss in osteogenesis imperfecta, combined with detailed imaging and multidisciplinary management, is essential to optimize functional outcomes.