Henryk Skarzynski, Kamila Osinska, Beata Dziendziel, Piotr H. Skarzynski
(Oto-Rhino-Laryngology Surgery Clinic, World Hearing Center, Institute of Physiology and Pathology of Hearing, Warsaw/Kajetany, Poland)
JHS 2015; 5(4): CS43-48
Osteogenesis imperfecta is a congenital disorder underlain by an inherited deficiency of a connective tissue component. Different clinical symptoms related to various collagen mutations make it possible to distinguish several types of osteogenesis imperfecta. The most common four symptoms are defects of the osteoarticular system, sclera, skin, and hearing loss.
CASE REPORT: We report the case of a 60 year-old patient who was referred to the Institute of Physiology and Pathology of Hearing with bilateral progressive hearing loss, which she had first noted about 35 years ago. Based on clinical findings, the patient was diagnosed with osteogenesis imperfecta. She had a history of multiple bone fractures, short stature, and minor teeth malformations. No genetic test results were available for this patient. Based on results of an examination and the character of the hearing loss, the patient was referred for surgical treatment: explorative tympanotomy with bilateral reconstruction in stages. Both surgeries revealed fixation of the stapes and a thickened stapes footplate. Stapedotomies were performed in each ear. Follow-up after surgeries included pure tone audiometries.
Surgical intervention resulted in closure or reduction of the air-bone gap on both sides, demonstrating effectiveness of the treatment.
CONCLUSIONS: In osteogenesis imperfecta hearing loss is a common comorbidity of anomalies in the osteoarticular system. A thickened and fixated stapes footplate can contribute to conductive component of hearing loss. Exploratory tympanotomy with stapedotomy is the method of choice in such cases. It allows the air-bone gap to be reduced and a subjective improvement of hearing, to reach, as this report demonstrates.
Keywords: Hearing Loss, Bilateral, osteogenesis imperfecta, Stapes Surgery