Second branchial cleft fistula in a child with genetically confirmed branchio-oto-renal (BOR) syndrome

Preface: Branchial cleft anomalies constitute 32% to 45% of all neck pathologies in the pediatric population. These disorders may be a part of a branchio-oto-renal (BOR) syndrome, characterized by branchial arch abnormalities, preauricular pits, hearing impairment, and various types of renal disorders. Usually, the treatment of a branchial fistula does not necessarily require extensive diagnostics before the treatment. However, in some cases, branchial cleft fistulas may occur together with other congenital disorders. A case report: The aim of this study is to present diagnostic and therapeutic difficulties in a 4-year old male patient with a complete second branchial cleft fistula and additional congenital, bilateral hearing loss. The course of the disease, diagnostic difficulties, and its treatment are presented. Genetic counseling finally confirmed the mutation of an EYA1 gene, responsible for the occurrence of BOR syndrome. The child undergone a total fistula resection without any complications during hospitalization or in the postoperative treatment. Summary: Presentation of this clinical case was intended primarily to remind that such defects may occur in the association with other anomalies, for example, deafness or renal disorders. When dealing with such patients, it is worth paying attention to the detailed examination and diagnostics, including genetic counseling, hearing tests or abdominal ultrasound. Special radiological imaging should also be performed in case of the unusual course of the fistula or probable proximity to vital structures, what is essential during qualification for surgery. Finally, we wanted to describe alternative methods of treatment for the standard surgical technique that may be used in a selected group of patients.