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Case Reports
. 2012 Dec;33(9):1562-6.
doi: 10.1097/MAO.0b013e31826bf19b.

Otopathology in Osteogenesis Imperfecta

Affiliations
Case Reports

Otopathology in Osteogenesis Imperfecta

Felipe Santos et al. Otol Neurotol. 2012 Dec.

Abstract

Background: Osteogenesis Imperfecta (OI) is a genetic disorder of connective tissue matrix. OI is caused by mutations that affect type I collagen. The hearing loss in OI is characterized by onset in early adulthood and can be conductive, sensorineural, or mixed.

Objectives: To describe the temporal bone histopathology in 9 individuals with OI.

Materials and methods: Four adult, 1 pediatric, and 4 infant specimens were identified. Temporal bones were removed at autopsy and studied using light microscopy.

Results: All adults and 1 pediatric specimen showed otosclerotic lesions. The findings included examples of clinical, histologic, and cochlear otosclerosis. The temporal bones of infants showed delayed ossification of the endochondral layer of bone and of the ossicles. There were no infant specimens with otosclerotic lesions.

Conclusion: Hearing loss in OI may be the result of clinical or cochlear otosclerosis. Fracture or atrophy of the ossicles may also be present in OI. A third unidentified mechanism of hearing loss may lead to cochlear degeneration. The described findings of otosclerotic lesions have implications for the observed heterogeneity of hearing loss patterns and for the surgical management of hearing loss in OI.

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Figures

Figure 1
Figure 1
A midmodiolar section of the left temporal bone. An otosclerotic lesion is seen on both sides of the internal auditory canal. Inferiorly the lesion shows an area of cavitation.
Figure 2
Figure 2
The right temporal bone shows an otosclerotic lesion obliterating the oval window. The crura of the stapes are separated from the footplate. There is a mucous membrane surrounding the distal aspect of the crura indicating that this is not an artifact of specimen retrieval.
Figure 3
Figure 3
The right temporal bone with an otosclerotic lesion anterior to the oval window. There is no fixation of the stapes.
Figure 4
Figure 4
The right temporal bone with otosclerosis surrounding the cochlea. There is significant post mortem autolysis. Hyalinization of the spiral ligament is evident in the mid turn of the cochlea. There is cavitation of the otosclerosis inferior to the basal turn of the cochlea, a potential source for electrode migration during cochlear implantation. The silhouette of a stapes prosthesis is seen traversing a fixed footplate.
Figure 5
Figure 5
A magnified view of the the ipsilateral round window niche shows complete obliteration and new bone formation within the scala tympani.
Figure 6
Figure 6
The left ear demonstrates a non-obliterating focus of otosclerosis at the round window niche. The tympanic facial nerve is dehiscent.
Figure 7
Figure 7
The endochondral layer of bone is not fully ossified. The stapes foot plate is split in two layers by bone marrow.
Figure 8
Figure 8
The right temporal bone shows delayed ossification of the endochondral layer. The incus and malleus have a larger than expected amount of marrow.
Figure 9
Figure 9
The endochondral layer is ossified. The stapes foot plate remains split in two layers. The body of the incus is filled with marrow.

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References

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