Radiologic and Audiologic Findings in the Temporal Bone of Patients with CHARGE Syndrome

Abstract

Background: CHARGE syndrome is a common congenital anomaly. Hearing loss affects 60%-90% of these children. As temporal bone computed tomography (CT) has become more sophisticated, more abnormalities of the middle and inner ear have been found. We present the detailed CT findings for children with CHARGE syndrome and the correlation of the CT findings with audiograms.

Methods: We performed a retrospective medical records review of 12 patients with CHARGE syndrome, identified between 1990-2011 at Princess Margaret Hospital for Children in Western Australia, who underwent temporal bone CT for evaluation of hearing loss.

Results: We present our findings for the 24 ears in terms of the cochlear, semicircular canal, middle ear, facial nerve, external auditory canal, venous, and jugular anomalies. The internal auditory canal was normal in 83.3% (n=20) of ears. Three (12.5%) ears had enlarged basal turns, and 4 (16.7%) each had hypoplastic and incompletely partitioned apical turns. The majority (n=13, 56.5%) of the vestibules were dysplastic. Up to 70.8% had abnormalities of the semicircular canal. The middle ear cavity was normal in 55% (n=11) of ears; however, up to 80% of the ears had some abnormality of the ossicles, and up to 70% had an abnormality of the facial nerve (7th cranial nerve) segments, especially in the labyrinthine segment. CT findings did not correlate with the audiograms.

Conclusion: The management of children with CHARGE syndrome is complex, requiring early evaluation and close attention of the multidisciplinary team. Early identification of hearing deficits is vital for patients' linguistic development.

Keywords: CHARGE syndrome; ear diseases; ear–inner; ear–middle; radiology; tomography–x-ray computed.