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

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  • Sasaki Takato
    Department of Pediatric Surgery, Faculty of Medicine, University of Tsukuba
  • Masumoto Kouji
    Department of Pediatric Surgery, Faculty of Medicine, University of Tsukuba
  • Takayasu Hajime
    Department of Pediatric Surgery, Faculty of Medicine, University of Tsukuba
  • Tanaka Hideaki
    Department of Pediatric Surgery, Faculty of Medicine, University of Tsukuba
  • Shinkai Touko
    Department of Pediatric Surgery, Faculty of Medicine, University of Tsukuba
  • Urita Yasuhisa
    Department of Pediatric Surgery, Faculty of Medicine, University of Tsukuba
  • Gotoh Chikashi
    Department of Pediatric Surgery, Faculty of Medicine, University of Tsukuba
  • Ono Kentarou
    Department of Pediatric Surgery, Faculty of Medicine, University of Tsukuba
  • Chiba Fumiko
    Department of Pediatric Surgery, Faculty of Medicine, University of Tsukuba
  • Fujii Syunsuke
    Department of Pediatric Surgery, Faculty of Medicine, University of Tsukuba

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Other Title
  • Branchio-otic症候群に伴う両側側頸瘻の1例
  • 症例報告 Branchio-otic症候群に伴う両側側頸瘻の1例
  • ショウレイ ホウコク Branchio-otic ショウコウグン ニ トモナウ リョウガワガワ ケイロウ ノ 1レイ

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Abstract

<p>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.</p>

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