Introduction: Inner ear malformations (IEMs) are rare and it is unusual to encounter the rarest of them, namely labyrinthine aplasia (LA) and otocyst deformity. They do, however, provide useful pointers as to the early embryonic development of the ear. LA is characterised as a complete absence of inner ear structures. While some common findings do emerge, a clear definition of the otocyst deformity does not exist. It is often confused with the common cavity first described by Edward Cock. Our purpose was to radiologically characterise LA and otocyst deformity.
Methods: Retrospective analysis of CT and MRI data from four patients with LA or otocyst deformity. Middle and inner ear findings were categorised by two neuroradiologists.
Results: The bony carotid canal was found to be absent in all patients. Posterior located cystic structures were found in association with LA and otocyst deformity. In the most severe cases, only soft tissue was present at the medial border of the middle ear cavity. The individuals with otocyst deformity also had hypoplasia of the petrous apex bone.
Conclusions: These cases demonstrate gradual changes in the two most severe IEMs. Clarification of terms was necessary and, based on these findings, we propose defining otocyst deformity as a cystic structure in place of the inner ear, with the cochlea, IAC and carotid canal absent. This condition needs to be differentiated from the common cavity described by Edward Cook. A clear definition of inner ear malformations is essential if outcomes following cochlear implantation are to be compared.