Branchio-oto-renal syndrome in a young Han Chinese female: a case report and review of the literature.

Abstract

Background: Branchio-oto-renal syndrome is a rare autosomal dominant disorder characterized by branchial arch anomalies, hearing loss, and renal dysplasia. Its diagnosis remains challenging due to clinical heterogeneity and overlapping features with other syndromes. This case report aims to enhance awareness of branchio-oto-renal syndrome and highlight multidisciplinary management strategies.

Case presentation: A 20-year-old Han Chinese female presented with bilateral preauricular and lateral neck fistulas since birth, accompanied by intermittent discharge. Physical examination revealed cup-shaped right ear deformity, bilateral preauricular fistulas, and branchial fistulas. Audiometry showed bilateral sensorineural hearing loss. Imaging studies identified an enlarged vestibular aqueduct and a hypoplastic left kidney. The patient underwent bilateral preauricular fistulotomy and bilateral branchial fistulotomy. Half a year after surgery, the patient's incision healed well with no discharge or signs of recurrence. Unfortunately, the patient did not undergo genetic testing.

Conclusion: The diagnosis of branchio-oto-renal syndrome requires a high degree of clinical suspicion. Multidisciplinary collaboration is crucial for comprehensive management, including surgical intervention, audiological support, and long-term kidney monitoring.