Middle Ear Fibrosis Contributes to Hearing Loss in Patients With Myhre Syndrome

Area of Science:

• Genetics
• Otolaryngology
• Audiology

Background:

• Myhre syndrome (MS) is a rare genetic disorder associated with craniofacial anomalies and Eustachian tube dysfunction.
• Patients with MS are susceptible to airway scarring and mucosal inflammation, complicating medical interventions.
• Conductive or mixed hearing loss is a common comorbidity in MS, with an unclear etiology.

Purpose of the Study:

• To describe a newly identified cause of progressive hearing loss in children with Myhre syndrome.
• To highlight the challenges in managing middle ear pathology in MS patients.
• To evaluate the efficacy of bone conduction implantation for hearing restoration in MS.

Main Methods:

• Case report of two unrelated children diagnosed with Myhre syndrome.
• Detailed audiological evaluation and surgical history, including multiple tympanostomy tube placements.
• Assessment of hearing outcomes following bone conduction implantation in one patient.

Main Results:

• Both patients presented with progressive mixed hearing loss attributed to middle ear space fibrosis and obliteration.
• Early extrusion of tympanostomy tubes was observed in both cases.
• Bone conduction implantation in the older child led to substantial improvements in speech recognition and interactive abilities.

Conclusions:

• Fibrosis and obliteration of middle ear spaces represent a novel etiology for hearing loss in Myhre syndrome.
• Otolaryngologists should exercise caution during middle ear surgery to prevent iatrogenic fibrosis.
• Bone conduction implantation shows promise for improving auditory function and quality of life in affected children.