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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.
The Annals of Otology, Rhinology, and Laryngology
|May 23, 2002
Summary
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.