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Temporal bone histopathology in CHARGE association
Shin-Ichi Haginomori1, Isamu Sando, Makoto Miura
1Department of Otolaryngology, University of Pittsburgh School of Medicine, PA 15213, USA.
Insights
Temporal bone histopathology in CHARGE association reveals varied anomalies. Findings suggest complex etiopathogenetic factors, not a single cause, for this condition.
Area of Science:
- Otolaryngology
- Genetics
- Pathology
Background:
- CHARGE association is a complex genetic disorder with diverse clinical manifestations.
- Temporal bone abnormalities are frequently reported in CHARGE association, impacting hearing and balance.
- Previous histopathological studies have described specific ear anomalies in CHARGE patients.
Observation:
- Histopathological examination of three temporal bones from two patients with CHARGE association was performed.
- One patient exhibited multiple middle ear, inner ear, and facial nerve anomalies.
- The second patient's temporal bone showed largely normal inner ear, middle ear, and eustachian tube structures.
Findings:
- The observed histopathological findings in the two patients varied significantly.
- This variability contrasts with previous reports on temporal bone pathology in CHARGE association.
- The results indicate that CHARGE association may result from multiple etiopathogenetic factors.
Implications:
- CHARGE association likely arises from complex, multifactorial etiologies.
- Otolaryngologists should be aware of potential temporal bone anomalies during surgery in CHARGE patients.
- Particular attention to dehiscent facial canals and perilymphatic gushers is crucial in otologic procedures for individuals with CHARGE association.
Abstract:
Three temporal bones obtained at autopsy from 2 patients with CHARGE association (Coloboma, congenital Heart disease, Atresia of choanae, mental Retardation and/or central nervous system anomalies, Genital hypoplasia, and Ear anomalies) were examined histopathologically. Both temporal bones from 1 patient showed multiple anomalies in the middle ear, inner ear, and facial nerve. However, the temporal bone obtained from the other patient showed almost normal structures in the inner ear, middle ear, and eustachian tube. These results are different from those of 2 previous reports of temporal bone histopathology regarding CHARGE association. This difference suggests that CHARGE association may arise not from one etiopathogenetic factor, but from complex factors. Special attention to dehiscent facial canal and perilymphatic gusher during otologic surgery in patients with CHARGE association is discussed.