Histopathologic study of temporal bone and eustachian tube in oculoauriculovertebral spectrum

Area of Science:

• Otolaryngology
• Developmental Biology
• Pediatric Pathology

Background:

• Oculoauriculovertebral spectrum (OAVS) is a congenital disorder affecting craniofacial structures.
• Histopathological analysis of temporal bone specimens is crucial for understanding OAVS-related auditory and Eustachian tube (ET) anomalies.

Observation:

• Studied were bilateral temporal bone specimens from a 21-month-old girl and a left temporal bone-Eustachian tube (ET) specimen from a newborn, both with OAVS.
• Severe external and middle ear anomalies were observed, consistent with prior OAVS histopathological reports.
• The 21-month-old exhibited bilateral hypoplastic cochleas, characteristic of Mondini dysplasia, despite a normal auricle.

Findings:

• The newborn presented with multiple ET anomalies, including a widely patent cartilaginous ET lumen and absent lateral lamina of the ET cartilage.
• Bilateral hypoplastic cochleas were identified in the older child, indicating inner ear malformations associated with OAVS.
• Severe external and middle ear malformations were confirmed in both pediatric specimens.

Implications:

• These findings underscore the spectrum of inner ear and ET malformations in OAVS.
• Understanding these histopathological details is vital for predicting developmental outcomes and guiding clinical management in affected children.
• The study highlights the need for comprehensive audiological and otological evaluations in infants diagnosed with OAVS.