Branchio-otic症候群に伴う両側側頸瘻の1例 Case Report: Bilateral Branchial Cleft Fistulae Associated With Branchio-otic Syndrome

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<p>症例は15 歳女児,両側の側頸瘻に対して瘻管切除術を行った.家族歴は認めなかったが,幼少期より内耳,中耳の奇形を伴う難聴を指摘されていた.側頸瘻と耳奇形,難聴の合併所見よりBranchio-otic 症候群(BO 症候群)と診断した.BO 症候群は第2 鰓弓奇形としての側頸瘻,難聴,耳奇形を特徴とし,常染色体優性遺伝をとる疾患である.腎奇形を伴う場合にはBranchio-oto-renal 症候群(BOR 症候群)と呼ばれる.BO/BOR 症候群は,その認知度の低さから診断に至っていない症例も数多くいると考えられている.側頸瘻を有する症例のうち,両側性や完全瘻を呈する症例は比較的少ないが,BO/BOR 症候群に伴う側頸瘻は両側性や完全瘻の報告が多い.自験例は左側が完全瘻の両側側頸瘻であった.両側例や完全瘻を有する症例に対しては本症候群も考慮する必要があると考えられた.</p>

<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>

収録刊行物

  • 日本小児外科学会雑誌

    日本小児外科学会雑誌 53(1), 105-109, 2017

    特定非営利活動法人 日本小児外科学会

各種コード

  • NII論文ID(NAID)
    130005242511
  • NII書誌ID(NCID)
    AN00192281
  • 本文言語コード
    JPN
  • ISSN
    0288-609X
  • NDL 記事登録ID
    028029449
  • NDL 請求記号
    Z19-244
  • データ提供元
    NDL  J-STAGE 
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