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

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 was 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. Conclusion: 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. radiologists and otolaryngologists. This study was approved by the Ethics Review Committee of our institution. We retrospectively assessed the temporal bone CT images of 13 patients with genetically confirmed DiGeorge syndrome and who presented hearing loss. Patient age ranged from 1 to 15 years and mean age was 9.6 years. There were 10 girls and 3 boys. All clinical history including audiometric findings and temporal bone CT imaging was available for all patients. CT protocol and imaging analysis Two neuroradiologists blinded to the clinical findings (a senior physician specialized in pediatric head and neck radiology and a final year resident at the end of his specialty training) reviewed CT imaging (GE light speed 16, 120 Kv, 120 mA, thickness 0.3 mm). A key for reading temporal bone CT was pre-established, then applied from one patient to another, using superposable measures referenced in the literature [4-12]. Thus, CT analysis was always performed by listing and analyzing the following items: • External auditory canal. Citation: Eliezer M (2016) Can Imaging Aid Diagnosis of Inner Ear Malformation and Predict Digeorge Syndrome? J Genet Syndr Gene Ther 7: 315. doi: 10.4172/2157-7412.1000315