A Case of Branchio-Otic Syndrome

Korean Journal of Head & Neck Oncology 2011;27(1):84-87.
Published online May 30, 2011.

Jeong Joo Hong;Yoo Seob Shin;Yun Tae Kim;Chul-Ho Kim

아가미귀 증후군 1예

홍정주;신유섭;김윤태;김철호

Abstract

Branchio-otic syndrome(BOS) is a relatively uncommon genetic malformation associated with dysmorpho-genesis of the first and second branchial arches and is characterized by branchial fistulae, congenital preauric-ular fistulae, and anomalies of the pinnae, external, middle, and inner ears, accompanied by hearing loss. Recently, we experienced a case of BOS in a 10 years old female patient and report this case with a review of literature. 10-year-old girl presented with hearing impairment, bilateral preauricular fistula and cervical fistula. The pure tone audiometry revealed that she had 60dB sensorineural hearing loss on right side and 90dB mixed hearing loss on left. Bilateral branchial fistula was found on the neck CT scan and bilateral ossicular and cochlear ab-normality combined with enlarged internal auditory canal was noted on the temporal bone CT scan. To inves-tigate the association with EYA1 gene, we performed DNA sequncing with peripheral white blood cell and found the point mutations on Exon 7, 12 and 16 of EYA1 gene. The preauricular fistula and branchial fistula was excised surgically and hearing aid was applied on her left side. There was no sign of fistula recurrence for sev-en years after the surgery.

Key Words: Branchio-oto-renal syndrome, Branchial cleft cyst, Hearing loss, Eyes absent protein, Drosophilia, EYA 유전자.