Neurofibromatosis Type 2 And Schwannomatosis

Neurofibromatosis type 2 and schwannomatosis

Neurofibromatosis type 2 (NF2) and schwannomatosis are rare genetic diseases in which benign tumors form on cells of the nervous system. Nerve tumors in the brain, eyes, hearing organs and in the area of the spine or spinal cord are typical. They can also appear on peripheral nerves on the skin. The tumors can lead to impaired vision and balance, nerve pain or other complaints.

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• How is the diagnosis made?
• How are the diseases going?
• How is NF2 and Schwannomatosis treated?
• Whom can I ask?
• How are the costs going to be covered?

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Neurofibromatosis type 2 (NF2) affects around 1 in 30,000 newborns. Schwannomatosis has an estimated frequency of one in 60,000 newborns.

In around 50 percent of children with NF2 or schwannomatosis, the disease is inherited from a parent, but in around 50 percent the child's parents themselves are not affected. An affected person has a 50 percent risk of passing on the disease in every child.

The rare diseases NF2 and schwannomatosis as well as the somewhat more common neurofibromatosis type 1 differ from one another in terms of the causal genetic defect as well as the form and severity of the nerve tumors and the course of the disease.

• As schwannomas nerve tumors are called, which develop from the so-called Schwann cells and may be located at each nerve of the body, usually in the range of the cranial nerves, especially the auditory nerve, but also in the area of the nerves in the spinal canal or the skin or muscles.
• The group of meningiomas usually includes slowly growing tumors in the area of the brain or spinal cord skin.

What are the symptoms?

The symptoms are triggered by the development and spread of nerve tumors or meningiomas. Depending on the location and shape of the tumor, different symptoms can arise.

Symptoms of neurofibromatosis type 2 (NF2)

The main feature is schwannomas in the area of the equilibrium nerves. Symptoms include sudden hearing loss, tinnitus (ringing in the ears), slowly progressive hearing deterioration or impaired balance. The first signs of the disease usually appear in young adults between the ages of 18 and 24 years. But they can also show themselves at a later age. Neurological complaints such as pain, paralysis or sensory disorders can also occur.

However, schwannomas can also develop in other nerves. Furthermore, benign tumors of the meninges (meningiomas) occur frequently, which can lead to neurological deficits due to pressure on the brain or spinal cord. In the spinal canal, low-grade tumors, so-called ependymomas, can damage the spinal cord.

Further symptoms are pathological changes in the eyes (e.g. clouding of the lens) and benign tumors of the skin. These complaints usually appear for the first time in adulthood.

Symptoms of schwannomatosis

The disease is usually characterized by a large number of benign tumors of the peripheral nervous system - that is, the nerves outside the brain and spinal cord. The main symptom is often difficult-to-treat pain. These can be triggered by the pressure of the tumor on a nerve root (compression).

How is the diagnosis made?

The clinical pictures NF2 and Schwannomatosis are difficult to differentiate even for medical experts. Diagnosis is based on the detection of certain nerve tumors and on the basis of certain clinical criteria, such as the shape, type, location and number of tumors.

During a neurological examination, the specialist can determine signs of a tumor. For an accurate diagnosis, a genetic test and various imaging examinations and tests are necessary, e.g. hearing tests (audiometry), checking the nerve tracts, etc.

The diseases can be detected by the genetic test. Sometimes, however, there are so-called mosaics, which means that not all body cells show the change - this can make testing considerably more difficult. Not all genes involved in schwannomatosis are yet known.

The clinical criteria for diagnosing neurofibromatosis type 2 are:

• Either: bilateral tumors (schwannomas) of the equilibrium nerves or a first-degree relative with NF2 and either a unilateral tumor (schwannoma) of an equilibrium nerve or two of the following symptoms: meningiomas (benign tumors of the meninges), schwannomas (outside the auditory nerves), neurofibromas (rarely with NF2!) or posterior lens opacity (special cataract).
• Or: a unilateral tumor (schwannoma) of an equilibrium nerve and two of the following: meningiomas (benign tumors of the meninges), schwannomas (outside the auditory nerves), neurofibromas (rare with NF2), posterior lens opacity (special cataract).
• Or: Multiple meningiomas and a unilateral tumor (schwannoma) of an equilibrium nerve or schwannoma (outside the auditory nerves) or neurofibroma (rarely with NF2!) Or posterior lens opacity (special cataract).

How are the diseases going?

The severity of the symptoms and the severity of the course vary greatly from person to person and depend on the type of pathological genetic change present and the age of the first symptoms.

In the vast majority of cases, people with NF2 do not develop symptoms until adulthood. In severe cases, the symptoms appear in childhood. Although the tumors in NF2 do not degenerate in principle, the associated complications (paralysis, imprinting of vital areas of the brain or spinal cord) can lead to a certain reduction in life expectancy.

The course of schwannomatosis can be characterized by chronic pain or sensory disturbances. A cure for the disease is currently not possible with either NF2 or schwannomatosis.

How is NF2 and Schwannomatosis treated?

After the disease has been diagnosed, the various symptoms must be treated by specialists in the respective medical fields, e.g. specialist in ENT, neurology, neurosurgery, etc.

Physiotherapeutic and speech therapy support can make a significant contribution to alleviating the symptoms and improving the quality of life. For some sufferers, good pain medical care may be the focus. Regular examinations are necessary to control the course of the disease.

Treatment for NF2

The tumors in the area of the equilibrium nerves are a particular challenge for treatment. They can often occur on both sides and lead to hearing loss or even deafness.

It is decided on an individual basis whether the tumors are to be observed or treated with wait and see using MRI (and hearing examinations for tumors of the auditory nerves). Treatment options are surgical removal, local radiation therapy or possibly drug tumor therapy (especially for tumors of the auditory nerves). The decision on how to proceed is made by the treating specialists together with the patient after weighing possible risks. The aim of the treatment is the greatest possible preservation of the hearing and the facial nerves. It is also important to provide functional care for patients who may need hearing aids or even a cochlear / brain stem implant to restore their hearing.

Treatment for schwannomatosis

Schwannomas can be surgically removed depending on the location. Some patients require intensive pain medical care.

Whom can I ask?

If you suspect neurofibromatosis type 2 or schwannomatosis, you can contact the following offices:

• Specialist in paediatrics and adolescent medicine (pediatrician)
• Specialist in ear, nose and throat medicine (ENT)
• Specialist in neurology
• Specialist in neurosurgery (for known tumors)
• Specialist in oncology
• General practitioner
• Hospital with an ENT department
• Hospital with a department for neurology and neurosurgery
• Hospital with an oncology department
• Hospital with a department for paediatrics

Note At the University Clinic for Paediatrics and Adolescent Medicine of the medical Univ. Vienna (in the Vienna General Hospital) has an expertise center and a specialized outpatient clinic for children with neurofibromatosis type 2 and schwannomatosis.

The NF Kinder patient organization provides further information, advice and help, for example when looking for medical contacts, for people of all ages and their relatives.

How are the costs going to be covered?

The e-card is your personal key to the benefits of the statutory health insurance. All necessary and appropriate diagnostic and therapeutic measures are taken over by your responsible social insurance agency. A deductible or contribution to costs may apply for certain services. You can obtain detailed information from your social security agency. Further information can also be found at:

• Right to treatment
• Visit to the doctor: costs and deductibles
• What does the hospital stay cost?
• Prescription fee: This is how drug costs are covered
• Rehabilitation & cure
• Medical aids & aids
• Health Professions AZ

and via the online guide to reimbursement of social insurance costs.