Can Imaging Aid Diagnosis of Inner Ear Malformation and Predict Digeorge Syndrome?

Abstract

Objective To identify congenital malformations of temporal bone and more particularly the inner ear in DiGeorge syndrome. Methods We conducted a retrospective study from January 2003 to December 2011 at Rouen University Hospital. Temporal bone Computed tomography (CT) images of 13 patients with genetically confirmed DiGeorge syndrome were extracted from the database and systematically reviewed. All imaging was independently then jointly evaluated by both a senior and junior radiologist who were blinded to clinical data and audiometric findings. Results Review of CT images did not evidence any notable malformation of the external or middle ear. The anomalies identified correlated with the post otitis past of the patients. Conversely, we found either hypoplasia or agenesia in 69% of anomalies involving the lateral semicircular canal (LSCC). The vestibule was dilated in 31% of cases. There was no correlation between sensorineural hearing loss (SNHL) and the labyrinthine anomalies described. Conclusions In the present study, CT imaging was able to identify frequent malformation of the inner ear in DiGeorge syndrome, i.e hypoplasia or agenesia of the LSCC, without referring to audiometric findings. Moreover, the fortuitous diagnosis of this kind of malformation by CT scan performed for other investigations may lead to suspect Di George syndrome (22q11 deletion) moreover if other symptoms are associated.