Large vestibular aqueduct syndrome: A human temporal bone study

Objectives/Hypothesis: Large vestibular aqueduct syndrome (LVAS) is one of the common causes of hearing loss (HL). All prior studies have reported some anomalies associated with LVAS by imaging techniques. This study was undertaken to determine prevalence of LVAS in our temporal bone (TB) collection and its relationship to other systemic or otologic anomalies. Study Design: Retrospective, TB histopathologic study. Methods. Anteroposterior diameters of internal (IA) and external (EA) apertures were measured in 40 normal TBs (40 cases). TBs were considered as large vestibular aqueduct (LVA) if width of apertures was 95% greater than "normals." Systemic and otologic anomalies and histopathology of ears with LVAS were noted. Result: Of 1,608 non-"normal" TBs, 63 had LVA. There was negative correlation between IA and EA in 48 TBs with only enlarged IA. Fifteen TBs with enlarged EA always had enlarged IA and were therefore considered as LVAS. The most common pathologic condition was congenital heart anomaly. The most common syndrome or dysplasia was Mondini's. The most common anomalies of external and middle ears were dehiscent facial nerves, low set auricles, and ossicular deformities. Inner ear anomalies included modiolar deficiencies, hair cell loss, inter-scalar septum defects, and strial atrophy. There was no record of family history of HL, head injury, or craniofacial, branchial, or thyroidal abnormalities. Conclusion: Because HL associated with LVAS may be attributed to other ear anomalies, it is important to investigate other inner ear problems and system diagnoses that may indicate a syndrome in patients with radiologically diagnosed LVAS.