Mondini

Mondini dysplasia is a malformation of the inner ear, specifically affecting the cochlea, and sometimes also the semicircular canals. It is a congenital condition, meaning it is present at birth.

Description: Mondini dysplasia is characterized by an incomplete or abnormal development of the bony labyrinth of the inner ear. The most commonly observed feature is a cochlea with only one and a half turns instead of the normal two and a half turns. The apical turn is often dilated and cystic. The vestibule and semicircular canals can also be affected, ranging from mild enlargement to complete absence.

Causes: Mondini dysplasia is typically caused by genetic mutations. It can be associated with several syndromes, including Pendred syndrome, BOR syndrome (Branchio-oto-renal syndrome), and CHARGE syndrome. In some cases, the cause is unknown (idiopathic). Environmental factors during pregnancy may also play a role.

Symptoms: Individuals with Mondini dysplasia often experience hearing loss, which can range from mild to profound. The hearing loss is usually sensorineural, meaning it results from damage to the inner ear or auditory nerve. Vertigo and balance problems are also common symptoms, especially if the semicircular canals are affected.

Diagnosis: Mondini dysplasia is typically diagnosed through imaging studies, such as a high-resolution CT scan or MRI of the temporal bone. These scans can visualize the abnormal structure of the inner ear. Audiological testing is also performed to assess the degree and type of hearing loss.

Treatment: There is no cure for Mondini dysplasia. Management focuses on addressing the symptoms and maximizing hearing and balance function. Treatment options may include hearing aids, cochlear implants (for individuals with severe to profound hearing loss), and vestibular rehabilitation therapy to improve balance. Genetic counseling may be recommended for families with a history of Mondini dysplasia. The specific treatment plan is individualized based on the severity of the malformation and the individual's symptoms.