Branchial fstula in children with branchio-oto-renal syndrome (Melnick-Fraser syndrome): a clinical case report

Abstract

Relevance. Branchio-oto-renal syndrome (also known as Melnick-Fraser syndrome) is a rare syndrome characterized by hearing loss, renal malformations and branchial cyst (fistula) association. The article describes a clinical case of a boy with an atypical clinical picture of branchio-oto-renal syndrome.Material and methods. The patient was admitted to our clinic with acute inflammation, complaints of hearing loss and a fistulous tract in the right retromandibular region.Results. After the acute inflammation resolution and necessary investigations, the patient underwent a fistulectomy for diagnosis verification. We analyzed the patient routing from the first presentation to the patient's GP to the final diagnosis in our clinic. Based on this clinical case result analysis, we offered optimal diagnosis and treatment tactics for patients with Melnick-Fraser syndrome.Conclusion. Correct branchio-oto-renal syndrome diagnosis requires careful history taking, clinical examination and multidisciplinary team involvement. This approach will allow the patient to receive a full range of treatments with quality-of-life preservation.