Common clinical features of children with enlarged vestibular aqueduct and mondini dysplasia

Objectives/Hypothesis: The purpose of the study was to investigate the etiological factors and the audiological data of different types of inner ear malformations, which the authors thought might be helpful in elucidating the inter-relation among malformations and shedding light on pathogenesis. Study Design. Retrospective study from 1998 to 2002 at a tertiary care university hospital. Methods. One hundred sixty consecutive children with a total of 302 affected ears undergoing high-resolution computed tomography of the temporal bone for sensorineural hearing loss were enrolled. The image results were correlated with causes and origins, hearing loss patterns, hearing levels, and audiogram configurations. Results: Inner ear malformation was present in 114 (38%) ears. The most common malformations were enlarged vestibular aqueduct, incomplete partition of cochlea (Mondini dysplasia), large vestibule, and semicircular canal dysplasia, presenting either as isolated finding or in combination. Eighty-four (74%) ears had abnormalities confined to these four malformations; only 30 (26%) ears showed other malformations. Patients with complex of enlarged vestibular aqueduct, Mondini dysplasia, large vestibule, and semicircular canal dysplasia (EMVS complex) demonstrated a significantly higher incidence of fluctuating hearing loss (93%) and a better hearing level compared with those with other malformations. Homogeneity in audiological features among these four malformations was also disclosed. Conclusion: The authors identified a distinct clinical entity, the EMVS complex, which is characterized by fluctuating hearing loss and a better hearing level. The authors proposed that malformations belonging to this complex result from a common pathogenetic mechanism.