아가미귀 증후군 1예

• 영문명: A Case of Branchio-Otic Syndrome
• 발행기관: 대한두경부종양학회
• 저자명: 홍정주(Jeong Joo Hong) 신유섭(Yoo Seob Shin) 김윤태(Yun Tae Kim) 김철호(Chul-Ho Kim)
• 간행물 정보: 『대한두경부종양학회지』제27권 제1호, 84~87쪽, 전체 4쪽
• 주제분류: 의약학 > 종양학
• 파일형태: PDF
• 발행일자: 2011.05.30

영문 초록

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.

목차

서 론

증 례

고 찰

키워드

Branchio-oto-renal syndrome Branchial cleft cyst Hearing loss Eyes absent protein Drosophilia 아가미귀콩팥 증후군 새열 누공 난청 EYA 유전자.