Case Report: Bilateral Branchial Cleft Fistulae Associated With Branchio-otic Syndrome

Abstract

A 15-year-old girl, who had been suffering from hearing impairment with middle and inner ear anomaly, was referred to our department with bilateral cervical fistulae. She had no familial history of this condition. From her symptoms, she was diagnosed as having branchio-otic (BO) syndrome and underwent bilateral fistulae excision. BO syndrome is a rare autosomal dominant disorder characterized by second branchial fistulae, hearing impairment and otologic malformations. In addition to the above-mentioned symptoms, patients with renal anomaly are considered to have branchio-oto-renal (BOR) syndrome. Owing to lack of awareness, the accurate differential diagnosis of these syndromes might be difficult. Although second branchial cleft fistula is commonly unilateral (>90%) and complete fistulae are rare, bilateral and/or complete fistulae are frequently associated with BO/BOR syndrome. In our patient, she had bilateral second branchial cleft fistulae, and the left side was a complete fistula. Therefore, it is necessary to consider the possibility of BO/BOR syndrome in patients with bilateral or complete second branchial cleft fistulae.