Objective
To describe the human temporal bone histopathology in NOG-related Symphalangism Spectrum Disorder, a spectrum of congenital stapes fixation syndromes caused by mutations in the NOG gene. To discuss implications for clinical management.
Patient
A patient with a mutation in the NOG gene
Intervention(s)
Removal of temporal bones, post-mortem temporal bone computed tomography, histologic processing and review of temporal bones
Main Outcome Measure(s)
Temporal bone histopathology, and correlation with clinical, genetic, audiologic, and radiologic evaluations
Results
Both temporal bones demonstrated fixation of the stapes footplate to the otic capsule due to a circumferential bridge of calcified cartilage. In the right ear (unoperated), there was no additional abnormality of the ossicles or ossicular joints. In the left ear, fenestrations of the stapes footplate and the lateral semicircular canal were seen, consistent with a history of stapedectomy and fenestration procedure. Severe loss of spiral ganglion neurons (SGN) throughout the left cochlea accounted for the profound sensorineural hearing loss; there was a normal number of SGN in the right ear. In both ears, the cochleae demonstrated grossly preserved organs of Corti.
Conclusion
The temporal bone pathologic correlate for conductive hearing loss in this patient with a NOG mutation was circumferentially calcified cartilage bridging the stapedo-vestibular joint space. The temporal bone histopathology findings suggest that conductive hearing loss related to NOG mutation should be improved after stapedectomy; however, care must be taken in extrapolating to all patients with NOG mutations, as there may be variability in the pathology, especially given the variability of NOG spectrum disorders.