Verheij Emmy, Markodimitraki Laura M, Stokroos Robert J, Thomeer Hans G X M
Department of Otorhinolaryngology and Head and Neck Surgery, University Medical Center Utrecht, Utrecht, Netherlands.
Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands.
Front Surg. 2020 Aug 18;7:53. doi: 10.3389/fsurg.2020.00053. eCollection 2020.
Patients with 22q11.2 deletion syndrome frequently have conductive hearing loss and/or chronic otitis media. Otologic surgery is often opted for. We present two patients undergoing otologic surgery. This case report outlines the typical otologic surgical challenges in patients with 22q11.2 deletion syndrome. Case one is a 52 year old male patient with chronic otitis media who underwent a mastoidectomy. The pre-operative CT scan showed a fused lateral semicircular canal and vestibule. Peroperatively, the lateral semicircular canal could not be used as a landmark to identify the facial nerve. Case two is a 10 year old female patient with conductive hearing loss. A middle ear inspection was performed where a bony epitympanic fixation of the malleus was encountered. In addition, the manubrium of the malleus was atrophic and also fixated. The bony fixation was removed, as was the manubrium of the malleus. Otologists should be aware of these typical anatomical variations in patients with 22q11.2 deletion syndrome. We recommend to use CT scanning of the middle and inner ear when preparing for otologic surgery in 22q11.2 deletion syndrome.
22q11.2缺失综合征患者经常患有传导性听力损失和/或慢性中耳炎。耳科手术常常被选用。我们介绍两位正在接受耳科手术的患者。本病例报告概述了22q11.2缺失综合征患者典型的耳科手术挑战。病例一是一名52岁患有慢性中耳炎的男性患者，他接受了乳突切除术。术前CT扫描显示外侧半规管和前庭融合。手术中，外侧半规管不能用作识别面神经的标志。病例二是一名10岁患有传导性听力损失的女性患者。进行了中耳检查，发现锤骨有骨性上鼓室固定。此外，锤骨柄萎缩且也固定。去除了骨性固定以及锤骨柄。耳科医生应意识到22q11.2缺失综合征患者的这些典型解剖变异。我们建议在为22q11.2缺失综合征患者准备耳科手术时进行中耳和内耳的CT扫描。
