Neurofibromatosis type 2

Neurofibromatosis is a hereditary disease that manifests itself in both forms type 1 and type 2. Type 2, in which the person affected suffers from benign tumors in the brain and the symptoms they trigger, hearing problems, paralysis of the facial nerves and balance disorders, is comparatively rare. Neurofibromatosis is incurable, but it can be treated so well that possible complications can be prevented.

What is neurofibromatosis type 2?

The Neurofibromatosis type 2 is like the more common type 1, as a congenital and inherited disease. In fact, it was found that around 50% of the patients have a new mutation, i.e. there are no cases of the disease within the family.

The main characteristic of the disease are benign brain tumors that develop on both sides of the auditory and balance nerves and trigger specific symptoms. The typical symptoms of type 2 neurofibromatosis are impaired or lost hearing, tinnitus, impaired balance, paralysis of the facial muscles and a premature cataract.

This form of disease is significantly rarer than neurofibromatosis type 1, which is also known as Recklinghausen's disease. The incidence is 1: 35000, while that of type 1 must be seen at 1: 3500.

causes

The cause of every form of Neurofibromatosis are mutations of the corresponding neurofibromatosis gene on chromosome 22. It is assumed that this gene influences the migration behavior and shape of certain cell types, so that a defect with a high probability of leading to tumor diseases.

About half of the new cases are based on spontaneous gene mutations and are not hereditary. Nevertheless, neurofibromatosis is counted among the hereditary diseases. As such, the inheritance of the disease is autosomal dominant, which simply means that the inheritance is gender-independent, but definitely occurs if one of the parents is affected.

Symptoms, ailments & signs

Patients with neurofibromatosis type 2 develop tumors in the area of ​​the brain and spinal cord. Pigment changes as in NF type 1 are possible in a reduced amount. Tumors on nerves in the body are characteristic of type 2. These arise from the protective layer of nerve cells, the Schwann cells. The main infestation is in the area of ​​the brain, the auditory nerves and the spine.

Symptoms vary depending on the size of the tumor and its location. These include the perception of background noise and a general decline in hearing. Patients cannot keep their balance reliably, the facial muscles are occasionally paralyzed]] with a tendency to vomit, orientation problems and headaches.

The spread to the auditory nerves is usually symmetrical. Medicine calls this characteristic bilateral acoustic neuroma. Usually this process can only be recognized after puberty. Constant ringing or whining (tinnitus) accompanies the balance problems. Changes in the eyes also indicate neurofibromatosis type 2.Clouding of the lens of the eye (juvenile cataract) makes it difficult for patients to perceive it visually and is one of the early distinguishing features of central neurofibromatosis.

In addition, isolated swellings develop on the skin as in NF type 1. However, the typical Lisch nodule is missing in the area of ​​the eyes. Long-term symptoms include severe hearing damage through to deafness, the manifestation of facial paralysis, difficulty swallowing and impaired voice due to functional disruption of the vocal cords.

Diagnosis & course

The symptoms of a Neurofibromatosis type 2 are unspecific, so the correct diagnosis can be difficult and tedious. If there are symptoms and risks that could indicate the occurrence of the disease, especially hearing loss and balance disorders, a detailed examination must be carried out.

First, blood is drawn so that a DNA test can be carried out. The blood analysis is already possible in the course of the prenatal diagnosis. Since the main characteristic of neurofibromatosis type 2 are bilateral benign tumors of the auditory and equilibrium nerves, an imaging procedure must then be initiated. The disease may only be diagnosed if the tumors are detectable in this. Further clear criteria are the disease of one or both parents and the detection of tumors and fibromas.

If neurofibromatosis type 2 has been diagnosed, an EEG, hearing test, imaging examination of the spine and a psychological examination must be used to determine the severity of the disease in order to be able to initiate optimal care for the patient.

A distinction is made between two forms of neurofibromatosis: the first appearance before the age of 20 with rapid tumor progression, the Wishart phenotype, and the slow disease progression after the age of 20. This is known as the Feiling-Gardner phenotype.

Complications

Neurofibromatosis type 2 is a rare, hereditary disease, but depending on the location of the tumors, it can often lead to different complications. In general, the number of benign tumors increases as the disease progresses. Since these are mainly located in the brain or the spinal cord, they can lead to neurological failure symptoms in the long term.

However, the complications usually only arise in adulthood and can often be prevented by surgical removal of the tumors. One of the most common complications is the dysfunction of the eighth cranial nerve, which is responsible for hearing and the sense of balance. Hearing damage up to deafness can occur.

Furthermore, dizziness attacks often occur. Other common complications are facial nerve paralysis, vocal cord paralysis or swallowing disorders. In addition, coordination disorders of movement (ataxia), gait disorders and headaches can occur. If the spinal cord is affected, paraplegia can occur in extreme cases. Eye changes are also often observed, which can lead to a cataract (clouding of the lens) even in adolescence.

The most severe complications can be avoided by surgical removal of the tumors. However, since recurrences often occur, surgery cannot always prevent complications from occurring. Furthermore, the risk of the benign tumors converting into malignant tumors is significantly higher than that of the general population.

When should you go to the doctor?

A doctor should clarify a general feeling of illness, malaise or limitations in various functional abilities. If there are noticeable fluctuations in weight, orientation problems or paralysis, a doctor is required. Changes in the appearance of the skin, pain or hearing impairments must be examined and treated. The perception of noises that go unheard by other people is just as worrying as deafness. If your balance is disturbed, if there is an increase in minor accidents or falls, and if you are unsteady about walking, you should see a doctor.

Clouding of the cornea, visual changes in the area of ​​the eyes and changes in vision are further signs of the disease. Discomfort when swallowing or a tightness in the throat should be examined by a doctor. Changes in voice, restrictions in vocalization or refusal to eat are indications of a health irregularity; a doctor's visit is necessary. If the existing symptoms increase as the disease progresses, a doctor is required. If fears or behavior problems arise, the person affected should seek help. In the event of mood swings, a loss of well-being or quality of life, a visit to the doctor is recommended.

Treatment & Therapy

The cause of the Neurofibromatosis is in the genes and cannot be eliminated, so the disease is considered incurable. The aim and content of therapy can therefore only be to have an early, soothing effect on the symptoms that occur.

Patients should seek advice from several cooperating specialists in order to treat all symptoms. Depending on the severity of the disease, a team of general practitioners, who should particularly intervene in a coordinating manner, a neurologist or neurosurgeon and an ophthalmologist is recommended.

Some university clinics have special outpatient departments for neurofibromatosis patients. Symptom-related treatments, such as eye surgery or interventions on the facial nerves, are carried out there. A large tumor can be surgically removed, but the risks and side effects must be weighed against the chances of success.

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Outlook & forecast

Type 2 neurofibromatosis has so far been considered incurable. The reason for this can be found in the cause of the health disorder. There is a mutation in human genetics which, for legal reasons, doctors and medical professionals are not allowed to change it. In medical care, all measures taken by the attending physician therefore concentrate on alleviating the severely pronounced symptoms of the individual.

In most cases, different specialists work together to ensure optimal patient care. Together they achieve a significant alleviation of the irregularities and thus a significant improvement in the general quality of life. Without treatment, an increase in symptoms can be expected. In addition, the general risk of accidents is increased due to hearing impairment and problems with balance. The risk of developing a secondary illness would therefore be greater than with continuous medical care.

There are repeated surgical interventions in the course of life. The aim of the operations is to remove the benign tumors before they cause complications or disorders of movement and nerve activity. The person affected must therefore have regular check-ups throughout their lives in order to be able to detect growths as early as possible. Their location and impact are determined and, if necessary, preventive action should be taken.

prevention

Hereditary diseases like that Neurofibromatosis type 2 cannot be prevented. The fact that those affected do not have their own children is a personal precautionary measure that must be weighed up, but is recommended by many practitioners, but is not a guarantee due to the new mutations. Sufferers should have themselves examined at least once a year in order to recognize changes in the tumors, new symptoms and deterioration in time and to be able to treat them.

Aftercare

After completing treatment for type 2 neurofibromatosis, it is particularly important to monitor symptoms. The affected patient has to take it easy, especially after surgery. The skin must be protected from further stress and therefore care should be taken not to expose the skin to any further irritation, both in body care and in clothing.

Mild personal care products and low-irritation clothing are particularly important here. Especially mild shampoos and washing liquids with very skin-friendly pH values ​​are very gentle here. Clothing made from soft and breathable materials also provides relief. High-quality cotton or wool, which are processed in a very skin-friendly manner, help those affected for their well-being.

Particularly careful personal hygiene is also indicated. Parents of affected children should ensure that their bed linen is changed regularly and keep the living area very clean by cleaning floors and surfaces on a daily basis.

Parents should watch the development of symptoms very carefully in order to be able to initiate the necessary measures immediately if complications arise. Since type 2 neurofibromatosis can often take a very severe course, it makes sense to involve a therapist. He can help parents cope with stress and establish contact with self-help groups.

You can do that yourself

In addition to surgical treatment, there are self-help blogs and self-help portals on the Internet that offer many suggestions and tips about life as a person affected. A change in diet to anti-angiogenic foods supports the formation of tumor supply vessels and inhibits new tumor growth.

Modern technology enables adaptation to individual needs. Speech recognition programs and vibration amplifiers offer the hearing impaired important assistance. Devices with a large display often enable those affected with visual impairments to read books in the form of e-books. Learning a sign language at an early stage, in combination with appropriate interpreting services via smartphone, enables almost barrier-free communication with the hearing. In addition, there is the right to an interpreter for offices, visits to the doctor and in work life. In this case, however, the person concerned is obliged to apply for an interpreter from the office, the health insurance company or the integration office for each of these cases.

In the case of particularly marked restrictions, there is also the option of an assistance dog, the costs of which, however, have not yet been covered by the health insurance companies or state institutions. Affected people who also suffer from circulatory disorders in the form of polyneuropathy, it helps to stimulate the blood circulation through exercise and blood circulation-promoting ointments. Refraining from smoking and tight-fitting clothing also improves symptoms.