Neurofibromatosis is an inherited disease that manifests itself in two 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, such as hearing problems, paralysis of the facial nerves and balance disorders, is comparatively rare. Neurofibromatosis cannot be cured, but it can be treated well enough to prevent possible complications.
What is neurofibromatosis type 2?
Like the more common type 1, neurofibromatosis type 2 is considered to be a congenital and inherited disease. In fact, however, it could be determined that around 50% of those affected have a new mutation, i.e. there are no cases of the disease within the family. See nonprofitdictionary for Chediak-Higashi Syndrome (abbreviated as CHS).
The main feature of the disease are benign brain tumors that develop on both sides of the auditory and vestibular nerves and trigger specific symptoms. The typical symptoms of neurofibromatosis type 2 are reduced or loss of hearing, tinnitus, balance disorders, paralysis of the facial muscles and early cataracts.
This form of the 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.
The cause of every form of neurofibromatosis is mutations in the corresponding neurofibromatosis gene on chromosome 22. This gene is thought to influence the migration behavior and shape of certain cell types, so that a defect has 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 disease is inherited in an autosomal dominant manner, which, in simple terms, means that inheritance is gender-independent, but in any case if one parent is affected.
Symptoms, Ailments & Signs
Patients with neurofibromatosis type 2 develop tumors in the brain and spinal cord. Pigment changes as in NF type 1 are possible to a lesser extent. Type 2 is characterized by tumors on nerves in the body. These arise from the protective layer of nerve cells, the Schwann cells. The main areas of infestation are in the brain, auditory nerves and spine.
Depending on the size of the tumor and its location, different symptoms occur. These include perception of background noise and a general declining ability to hear. Patients cannot keep their balance reliably, the facial muscles are occasionally paralyzed ]] with a tendency to vomit, problems with orientation and headaches.
The propagation to the auditory nerves is usually symmetrical. Medicine refers to this characteristic as a bilateral acoustic neuroma. In most cases, this course can only be recognized after puberty. A permanent ringing or whistling (tinnitus) accompanies the balance problems. Changes in the eyes also indicate type 2 neurofibromatosis. A clouding of the lens of the eye (juvenile cataract) complicates the visual perception of patients and is one of the early recognition features of central neurofibromatosis.
In addition, isolated tumors 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 up to deafness, the manifestation of facial paralysis, difficulty swallowing and an impairment of the voice due to functional disruption of the vocal cords.
Diagnosis & History
The symptoms of neurofibromatosis type 2 are non-specific, so the correct diagnosis is difficult and can be lengthy. If symptoms and risks are present that could indicate the occurrence of the disease, in particular hearing loss and balance disorders, a detailed examination must be carried out.
First, blood is taken to carry out a DNA test. Blood analysis is already possible in the course of prenatal diagnostics. Since the main feature of neurofibromatosis type 2 are bilateral benign tumors of the auditory and vestibular nerves, an imaging procedure must then be initiated. The disease can only be diagnosed if the tumors are detectable in this area. Other clear criteria are the illness of one or both parents and the detection of tumors and fibroids.
If neurofibromatosis type 2 has been diagnosed, the extent of the disease must be determined by means of an EEG, hearing test, imaging examination of the spine and a psychological examination in order to be able to initiate optimal care for the patient.
A distinction is made between two forms of neurofibromatosis: the first occurrence before the age of 20 with rapid tumor progression, the Wishart phenotype, and the slow course of the disease after the age of 20. This is known as the Feiling-Gardner phenotype.
Although neurofibromatosis type 2 is a rare, hereditary disease, it can lead to various complications more frequently, depending on the location of the tumor. In general, the number of albeit benign tumors increases as the disease progresses. Since these are mainly located in the brain or spinal cord, they can lead to neurological deficits in the long term.
However, the complications usually only occur in adulthood and can often be prevented by surgical removal of the tumors. One of the most common complications is dysfunction of the eighth cranial nerve, which is responsible for hearing and balance. Hearing damage up to deafness can occur.
Dizzy spells are also common. Also 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, even paraplegia can occur in extreme cases. Eye changes are also frequently observed, which can lead to cataracts (clouding of the lens) as early as adolescence.
The most serious complications can be avoided by surgical removal of the tumors. However, since recurrences often form, even surgery cannot always prevent complications from occurring. Furthermore, the risk of the transformation of benign tumors into malignant tumors is significantly higher than in the general population.
When should you go to the doctor?
A general feeling of illness, malaise or limitations in various functional abilities should be clarified by a doctor. If there are noticeable weight fluctuations, problems with orientation or paralysis, a doctor is needed. Changes in the complexion, pain or hearing impairments must be examined and treated. The perception of sounds that remain unheard by those around you is just as worrisome as deafness. A doctor should be consulted in the event of balance disorders, an increase in minor accidents or falls and unsteady gait.
A clouding of the cornea, optical changes in the area of the eyes and changes in vision are further signs of a disease. Difficulty swallowing or a tight throat should be evaluated by a doctor. Changes in vocalization, restrictions in vocalization or a refusal to eat are indications of a health irregularity and a doctor’s visit is necessary. If there is an increase in the existing symptoms as the disease progresses, a doctor is needed. If fears or behavioral problems arise, the person concerned should seek help. In the case of mood swings, a loss of well-being or quality of life, a doctor’s visit is recommended.
Treatment & Therapy
The cause of neurofibromatosis lies 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, alleviating effect on the symptoms that occur.
Patients should seek advice from several collaborating specialists in order to be able to treat all symptoms. Depending on the severity of the disease, a team of general practitioners, who should intervene in a coordinating manner, a neurologist or neurosurgeon and an ophthalmologist is recommended.
Some university hospitals have special outpatient clinics 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.
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 that doctors and medical professionals are not allowed to change for legal reasons. In medical care, all measures initiated by the attending physician are therefore focused on alleviating the individually strong symptoms.
In most cases, various 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 is to be expected. In addition, the general risk of accidents is increased due to hearing impairment and balance problems. The risk of developing a secondary disease 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 affected person must therefore undergo regular check-ups throughout his life in order to be able to detect growths as early as possible. Their situation and effects are determined and, if necessary, preventive action is taken.
Hereditary diseases such as neurofibromatosis type 2 cannot be prevented. The fact that those affected do not have their own children is a personal precautionary measure that has to be weighed up, but is recommended by many therapists, but is no guarantee due to the new mutations. Those affected should be examined at least once a year in order to be able to recognize and treat changes in the tumours, new symptoms and deterioration in good time.
After completing treatment for neurofibromatosis type 2, monitoring of symptoms is particularly important. Especially after surgical interventions, the affected patient must rest. 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 personal hygiene and in clothing.
Particularly mild body care products and non-irritating clothing are important here. Particularly mild shampoos and washing liquids with very skin-friendly pH values are very gentle here. Clothing made of soft and breathable materials also provides relief. High-quality cotton or wool, which are very skin-friendly, help those affected to feel good.
Particular attention to personal hygiene is also indicated. Parents of affected children should make sure that the bed linen is changed regularly and keep the living area very clean by cleaning floors and surfaces on a daily basis.
Parents should observe the development of symptoms very carefully so that the necessary measures can be taken immediately if complications arise. Since neurofibromatosis type 2 can often take a very severe course, it makes sense to involve a therapist. He can help the parents to 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 an affected person. A change in diet to foods with an anti-angiogenetic effect supports the formation of tumor-supplying vessels and inhibits new tumor growth.
The modern technology allows an adaptation to individual needs. Speech recognition programs and vibration amplifiers offer important help to the hearing impaired. Devices with a large display often enable those affected with visual impairments to read books again in the form of e-books. Learning a sign language early on, in combination with corresponding interpreting services via smartphone, enables almost barrier-free communication with hearing people. In addition, there is a right to an interpreter for offices, visits to the doctor and in working life. 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 significant limitations, there is also the option of an assistance dog, the costs of which have not yet been covered by health insurance companies or state institutions. Affected people who also suffer from circulatory disorders in the form of polyneuropathy can use exercise and circulation-promoting ointments to stimulate blood circulation. Refraining from smoking and wearing tight-fitting clothing also improves the symptoms.