A case of branchio-oto-renal syndrome diagnosed with bilateral cervical fistula

Abstract

A 48-year-old man with a history of congenital kidney hypoplasia and hearing loss was referred to our hospital. He had congenital auris fistula and bilateral cervical fistula with a small amount of exudate. The auris fistula had been excised at the department of plastic surgery two months earlier. He had then been admitted to our department for the treatment of the bilateral cervical fistula. The cervical fistula was open at the level of the inferior thyroid cartilage and the anterior margin of the sternocleidomastoid muscle. Computed tomography (CT) was performed after contrast agent was injected via the orifice of fistula. Imaging revealed that the fistula ended outside of the hyoid bone and the tonsillar fossa, with no connection to the pharyngeal space. Three-dimensional CT revealed the structure of the fistula stereoscopically, including its branches. Under general anesthesia, the bilateral cervical fistula was completely removed without injury. The postoperative course was uneventful. It is important to consider branchio-oto-renal syndrome in cases of congenital deafness or branchiogenic malformation, as the early diagnosis can predict complications with kidney disease. Three-dimensional CT was useful for the morphological evaluation and preoperative simulation in the present case.