Progressive deafness with stapes fixation

Other Names: Thies Reis syndrome; Thies-Reis syndrome; Stapedo-vestibular ankylosis

Progressive deafness with stapes fixation, also known as Thies Reis syndrome, is a form of [conductive]] or mixed hearing loss caused by fixation of the stapes. The stapes is one of the tiny bones in the middle ear. It rests in the entrance to the inner ear, allowing sounds to pass to the inner ear. If it becomes fixated, sound waves cannot pass through to the inner ear, resulting in loss of hearing.

Cause

The exact cause of progressive deafness with stapes fixation depends on whether it is associated with an underlying condition or infection. This condition may be associated with a number of conditions, including otosclerosis, Paget's disease and osteogenesis imperfecta, or it may be found in isolation. It may also result from chronic ear infections (otitis media with tympanosclerosis).

Inheritance

Isolated cases may be inherited. Autosomal dominant, autosomal recessive, and X-linked cases have been reported. In some cases, no underlying cause can be identified.

Risk factors

This condition may be associated with a number of conditions, including otosclerosis, Paget's disease and osteogenesis imperfecta, or it may be found in isolation. It may also result from chronic ear infections (otitis media with tympanosclerosis).

Signs and symptoms

Progressive deafness with stapes fixation is characterized by hearing loss in both ears that can be conductive, sensorineural, or a mix of both and abnormal development of the stapes, one of the three small bones in the middle ear. In this condition, the stapes becomes fixed in place by an abnormally placed piece of connective tissue. Hearing loss associated with this condition typically begins between ages 8 and 24. Depending on the underlying cause of progressive deafness and stapes fixations, there may be other associated signs and symptoms.

Diagnosis

Otoscopy is normal in otosclerosis, Paget's disease, and osteogenesis imperfecta. It reveals middle ear lesions in tympanosclerosis.

Audiometry shows a conductive or mixed hearing loss with abolished stapedial reflexes.

Computerised tomography (CT) scanning is crucial for the diagnosis of stapes fixation. It detects the bone lesions of otosclerosis as a hypodense regions mainly localized to the anteriorpart of the oval window. In osteogenesis imperfecta and Paget's disease, lesions involve the whole temporal bone and the skull, and result in thickening of the ossicles. In tympanosclerosis, calcified plaques are typically diffuse in the middle ear cleft and involve the oval window.

Treatment

The progression of hearing loss is generally slow, rarely profound, and usually resolves following treatment. Conductive hearing loss can be restored through surgery or hearing aids. Sensorineural hearing loss can be managed with hearing aids or cochlear implants.

NIH genetic and rare disease info

• NIH info on Progressive deafness with stapes fixation

Progressive deafness with stapes fixation is a rare disease.