Neurofibromatoses are a group of genetic disorders that cause tumors to develop in nervous system tissue. These tumors can develop anywhere in the nervous system, including the brain, spinal cord and nerves. Developmental disorders, such as learning disabilities, are more common in such cases than in normal people. In addition, some cases may not show any symptoms, while in others, the follow-up and treatment process, which should continue from childhood, may become pathological.
The human body is made up of millions of cells. Cells contain structures called chromosomes and these chromosomes transfer the information needed for the cells to genes. Some differentiations in genes are called mutations. As a result of mutations in genes, the gene structure changes and certain diseases occur. Half of the chromosomes are inherited from the mother and half from the father. If one of the parents has the disease, there is about a 50 percent chance that the disease will be seen in the child.
What are the Types of Neurofibromatosis?
There are 2 types of neurofibromatosis. These are classified as Type 1 Neurofibromatosis (NF1) and Type 2 Neurofibromatosis (NF2). NF1 is usually diagnosed in infancy or early childhood, while NF2 is more commonly diagnosed in adolescence or adulthood.
The NF1 gene is located on chromosome 17. The symptoms observed in NF1 occur mostly in childhood or early adulthood. Tumours that develop in nervous system tissue are benign. This gene produces a protein called neurofibromin, which helps regulate cell growth. The mutated gene causes a loss of neurofibromin, which allows cells to grow uncontrollably.
The NF2 gene is located on chromosome 22 and produces a protein that tumors. The mutated gene causes loss of merlin, which leads to uncontrolled cell growth.
What are the symptoms of neurofibromatosis?
Symptoms may vary from person to person. These tumors, which can develop anywhere in the nervous system, including the brain, spinal cord and nerves, can show various symptoms depending on where they develop. In addition, the symptoms of Neurofibromatosis can be listed as follows:
- Numbness and weakness in the arms or legs
- Balance difficulties
- Vision problems or cataracts
- Neurological disorders
- Seizures
- Headache
- Learning disability
- Bone deformations
- Skin blemishes
- Hearing problems
- Short stature
- Epileptic seizure
What Causes Neurofibromatosis?
Neurofibromatosis is a type of disease caused by genetic disorders. It is not caused by any bacteria or toxic substances. It is caused by genetic defects (mutations) that are passed on by the parents or that occur spontaneously during pregnancy.
If a mother or father has the disease, it increases the chances of their child having it by half. Another situation is when the faulty gene develops spontaneously. Although the exact cause of this condition is not known, it can be seen due to genetic disorders that develop later.
How is Neurofibromatosis Diagnosed?
Neurofibromatosis is diagnosed after evaluation and examination by specialized doctors. The doctor learns the personal history of the disease and the medical history of the family in detail and the patient undergoes a physical examination. In the diagnostic phase of the disease, the patient may undergo eye, ear and balance examinations as well as genetic testing. The specialist may also utilize a number of different imaging techniques. The diagnostic stages of the disease can be listed as follows:
Eye Examination: This is a typical eye examination to determine whether there are different conditions such as vision loss or cataracts.
Balance Examination: Since balance problems can also occur in people with NF2, the specialist may also perform a balance test during the neurology examination.
Genetic Testing: Tests to identify NF1 and NF2 are available and can be done during pregnancy before the baby is born. This examination is done to determine whether there is a diseased gene.
Imaging Techniques: Imaging methods such as X-rays, tomography and MRI are used. They can help identify bone abnormalities, tumors in the brain or spinal cord, and very small tumors.
What are the Treatment Methods for Neurofibromatosis?
Although there is no cure forneurofibromatosis, treatment planning is based on managing symptoms and signs. If the person experiences pain, painkillers can be given by the specialist doctor. Surgical intervention can be applied if the tumors grow and put pressure on the nerves. The treatments to be applied depend on the problem the person is experiencing. Hearing aids may be recommended for people with hearing problems, while cochlear or brain stem implants may be implanted. When it causes any problems in the musculoskeletal system, treatment methods are recommended according to the disease or condition.