CASE STUDY
STAPEDOTOMY TO TREAT MIXED HEARING LOSS IN OSTEOGENESIS IMPERFECTA: A CASE STUDY
 
More details
Hide details
1
Oto-Rhino-Laryngology Surgery Clinic, World Hearing Center, Institute of Physiology and Pathology of Hearing, Warsaw/Kajetany
2
Heart Failure and Cardiac Rehabilitation Department, Medical University of Warsaw, Warsaw, Poland
3
Institute of Sensory Organs, Warsaw/Kajetany
CORRESPONDING AUTHOR
Kamila Osinska   

Kamila Osinska, Oto-Rhino-Laryngology Surgery Clinic, World Hearing Center, Institute of Physiology and Pathology of Hearing, Mochnackiego 10 Str., 02-042 Warsaw, Poland, e-mail: k.osinska@ifps.org.pl
Publication date: 2020-04-15
 
J Hear Sci 2015;5(4):43–48
KEYWORDS
ABSTRACT
Background:
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.

Results:
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.

 
REFERENCES (16)
1.
Harrington J, Sochett E, Howard A. Update on the evaluation and treatment of osteogenesis imperfecta. Pediatr Clin North Am, 2014; 61(6): 1243–57.
 
2.
Peltier LF. A brief historical note on the use of electricity in the treatment of fractures. Clin Orthop Relat Res, 1981; 161: 4–7.
 
3.
Chu ML, Williams CJ, Pepe G, Hirsch JL, Prockop DJ, Ramirez F. Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta. Nature, 1983; 304(5921): 78–80.
 
4.
Marini J, Smith S. Osteogenesis imperfecta, Endotext [Internet].
 
5.
Santos F, McCall A, Chien W, Merchant S. Otopathology in osteogenesis imperfecta. Otol Neurotol, 2012; 33(9): 1562–6.
 
6.
Van Dijk F, Sillence D. Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment. Am J Med Genet, 2014; 164A: 1470–1481.
 
7.
Sillence D, Senn A, Danks D. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet, 1979; 16: 101–16.
 
8.
Sillence D. Bone dysplasia. Genetic and ultrastructural aspects with reference to osteogenesis imperfecta. Ann Arbor, Michigan: University Microfilms; 1980.
 
9.
Forlino A, Cabral W, Barnes A, Marini J. New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol, 2011; 7(9): 540–57.
 
10.
Steiner RD, Adsit J, Basel D. COL1A1/2-related osteogenesis imperfecta. Gene Reviews, 2013. [www.ncbi.nlm.nih.gov/books/NBK...].
 
11.
Kuurila K, Pynnönen S, Grénman R. Stapes surgery in osteogenesis imperfecta in Finland. Ann Otol Rhinol Laryngol, 2004; 113(3 Pt 1): 187–93.
 
12.
Swinnen F, Dhooge I, Coucke P, Eufemia P, Zardo F, Garretsen T et al. Audiologic phenotype of osteogenesis imperfecta: Use in clinical differentiation. Otol Neurotol, 2012; 33(2): 115–22.
 
13.
Kuurila K, Kentala E, Karjalainen S, Pynnonen S, Kovero O, Kaitila I et al. Vestibular dysfunction in adult patients with osteogenesis imperfecta. Am J Med Genet, 2003; 120A: 350–8.
 
14.
Vincent R, Wegner I, Stegeman I, Grolman W. Stapedotomy in osteogenesis imperfecta: A prospective study of 32 consecutive cases. Otol Neurotol, 2014; 35(10): 1785–9.
 
15.
Vincent R, Gratacap B, Oates J, Sperling NM. Stapedotomy in osteogenesis imperfecta: A prospective study of 23 consecutive cases. Otol Neurotol, 2005; 26(5): 859–65.
 
16.
Makizumi Y, Kashio A, Sakamoto T, Karino S, Kakigi A, Iwasaki S et al. Cochlear implantation in a patient with osteogenesis imperfecta. Auris Nasus Larynx, 2013; 40(5): 510–3.
 
eISSN:2084-3127
ISSN:2083-389X