Make sure that your child’s hearing loss is not due to this ominous condition.

Make sure that your child’s hearing loss is not due to this ominous condition.

A congenital cholesteatoma has to be excluded as a possible cause for children diagnosed with hearing loss. This is especially true in cases of conductive hearing loss. It is an ominous condition and will inevitably lead to serious, even fatal complications if left untreated. If in doubt, consult with an otologist as a matter of urgency to rule it out.

Congenital cholesteatoma
A congenital cholesteatoma presents as a white pearly lesion behind an intact ear drum.

What is a cholesteatoma?

Cholesteatoma is a cyst-like growth consisting of abnormal desquamating skin. It has an incidence of 3-6 per 100 000 of the population per year. Cholesteatoma is found in the middle ear, mastoid or rest of the temporal bone where the skin is not supposed to be present. We can divide cholesteatoma into a congenital and acquired cholesteatoma. By implication, a congenital cholesteatoma is present at birth and develop from epithelial rests within the middle ear. Acquired cholesteatoma develop after birth. There are different ways in which an acquired cholesteatoma can develop. A cholesteatoma is a progressive and destructive disorder, not to be ignored!

Congenital cholesteatoma

Congenital cholesteatoma occurs in less than 1 per 100 000 children per year. They occur more commonly in boys and usually present before the age of 5 years. As mentioned earlier, epithelial rests occur within the middle ear until 33 weeks of gestation, when they are resorbed as part of the normal process. When these cells are not restored, they may lead to the development of congenital cholesteatoma. In 1988 an association between these epithelial rests and congenital cholesteatoma was made, leading to epithelial rest theory.

How is it diagnosed?

Conductive hearing loss in a child is usually due to fluid in the middle ear. In some cases, however, it may be due to a congenital cholesteatoma. With examination, a white pearly mass behind an intact eardrum should raise suspicion, especially without a previous history of ear infections, discharge, tympanic membrane perforation or ear surgery. It is most commonly found in the upper frontal part of the middle ear but can also originate in other parts.

A computed tomography (CT) scan will help delineate the cholesteatoma and assess its destruction and involvement of surrounding structures and the temporal bone in suspected cases. Magnetic resonance imaging (MRI) may show restricted diffusion, which is characteristic of cholesteatoma. It may also be helpful if the intracranial extension is suspected. A hearing test will determine the degree of hearing loss.

Congenital cholesteatoma
A computed tomogram (CT) scan showing the surrounding involvement of a congenital cholesteatoma (*).

What are the dangers of a congenital cholesteatoma?

Congenital cholesteatomas are destructive lesions. They commonly cause conductive hearing loss and can destroy the ossicles(bones of hearing). It can also destroy other structures like the tympanic membrane leading to perforations, infections and discharge.

Cholesteatomas may cause permanent facial nerve injury with weakness of the facial muscles. It may destroy the inner ear and labyrinth, leading to vertigo, dizziness, disequilibrium, as well as permanent sensorineural hearing loss.

Serious complications such as cerebrospinal fluid leaks, meningitis, brain abscesses, thrombosis and otic hydrocephalus may develop with intracranial extension.

The treatment of congenital cholesteatoma

Congenital cholesteatoma is a progressive and destructive, potentially life-threatening condition. It cannot be left alone. No medication may cure it. It needs to be surgically removed to prevent complications. The specific surgical approach and procedure will depend on the size, location and involvement of the surrounding structures. It has to be removed entirely, and leaving only a small piece behind (residual cholesteatoma) will not be good enough as it will only grow again. Radiation is not a treatment option.

It is important to note that cholesteatoma may recur, even in some cases where it is completely removed. It is therefore of cardinal importance to schedule follow up visits in order to rule out recurrence.