Department of Paediatric ENT, Royal London Hospital, London, United Kingdom.
J Pediatr Surg. 2012 Aug;47(8):1604-6. doi: 10.1016/j.jpedsurg.2012.05.016.
Branchiootoic syndrome is part of the spectrum of brachiootorenal disorders. Brachiootorenal disorder is a rare autosomal dominant condition, characterized by malformations of the outer, middle, and inner ear, which are associated with branchial and renal anomalies. We describe a case of bilateral branchiootoic syndrome and discuss the anatomy of second branchial cleft fistulae and the surgical management of this uncommon condition. We report the case of a 6-year-old girl referred to our department with bilateral intermittently discharging neck swellings. Clinical examination revealed bilateral branchial fistulae and preauricular sinuses, on a background of a positive family history of branchial fistulae. A magnetic resonance imaging scan confirmed the diagnosis of bilateral second branchial cleft fistulae. In view of her symptoms, she underwent bilateral branchial fistula excision and tonsillectomy with an uneventful postoperative recovery.
Branchiootoic 综合征是鳃-耳-肾发育异常的一部分。鳃-耳-肾发育异常是一种罕见的常染色体显性遗传疾病,其特征为外耳、中耳和内耳畸形,同时伴有鳃裂和肾脏异常。我们描述了一例双侧 branchiootoic 综合征,并讨论了第二鳃裂瘘管的解剖结构和这种罕见疾病的手术治疗。我们报告了一例 6 岁女孩的病例,该女孩因双侧间歇性颈部肿胀而被转至我们科室。临床检查发现双侧鳃裂瘘管和耳前窦,家族史中有鳃裂瘘管阳性。磁共振成像扫描证实了双侧第二鳃裂瘘管的诊断。鉴于她的症状,她接受了双侧鳃裂瘘管切除术和扁桃体切除术,术后恢复顺利。