Neurofibromatoses are a group of genetic disorders that cause tumors to appear in the nervous system tissue. These tumors can develop anywhere in the nervous system, including the brain, spinal cord, and nerves. Developmental disorders such as learning difficulties can be seen more frequently in such cases compared to normal individuals. Besides, while some cases may not show any symptoms, in others, the follow-up and treatment process that needs to continue from childhood can take a pathological turn.
The human body consists of millions of cells. Cells contain structures called chromosomes, and these chromosomes transfer the information necessary for cells to genes. Certain differentiations occurring in genes are called mutations. As a result of mutations in genes, the gene structure changes and certain diseases emerge. Half of the chromosomes are transferred from the mother and the other half from the father to the child. If one of the parents has the disease, the probability of the disease appearing in the child is approximately 50 percent.
What Are the Types of Neurofibromatosis Disease?
There are 2 types of neurofibromatosis disease. These are classified as Type 1 Neurofibromatosis (NF1) and Type 2 Neurofibromatosis (NF2). While NF1 is usually diagnosed during infancy or early childhood, NF2 is mostly diagnosed during adolescence or adulthood.
The NF1 gene is located on the 17th chromosome. Symptoms observed in NF1 mostly appear in childhood or early adulthood. Tumors developing in the 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 uncontrolled growth of cells.
The NF2 gene is located on the 22nd chromosome and produces a protein tumor suppressor. The mutated gene causes a 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 to these, neurofibromatosis symptoms 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
- Spots on the skin
- Hearing problems
- Short stature
- Epileptic seizure
What Are the Causes of Neurofibromatosis?
Neurofibromatosis is a type of disease caused by genetic disorders. It does not arise from any bacteria or toxic substance. It stems from genetic flaws (mutations) transferred to the person by his parents or occurring spontaneously during pregnancy.
Having the disease in the mother or father increases the likelihood of having it in their child by half. Another situation is the spontaneous development of the defective gene. Although the exact cause of this condition is not known, it can be seen due to subsequently developing genetic disorders.
How Is Neurofibromatosis Diagnosed?
Diagnosis of neurofibromatosis is made after evaluation and examination by specialist physicians. The doctor learns the personal medical history and the family's medical history in detail, and a physical examination is performed on the patient. During the diagnosis stage of the disease, genetic tests can be performed alongside eye, ear, and balance examinations. In addition, the specialist physician can benefit from a number of different imaging techniques. The diagnostic stage of the disease can be listed as follows:
Eye Examination: It is a typical eye examination performed to determine whether there are different conditions such as vision loss or cataracts.
Balance Examination: Since balance problems may also occur in individuals with NF2, a balance test may also be performed by the specialist during the neurology examination.
Genetic Test: Tests to determine NF1 and NF2 are available and can be performed during pregnancy before the baby is born. This examination is done to determine if the diseased gene is present.
Imaging Techniques: These are applications where imaging methods such as X-rays, tomography, and MR are used. It 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 exact cure for neurofibromatosis, treatment planning is based on managing the symptoms and signs. If the person experiences pain, painkillers can be prescribed by the specialist doctor. If the tumors grow and apply pressure on the nerves, surgical intervention can be applied. The treatments to be applied are carried out depending on the problem the person experiences. While hearing aids can be recommended for people experiencing hearing problems, cochlear or brainstem implants can be fitted. When it causes any problem in the musculoskeletal system, treatment methods are recommended similarly according to the disease or condition.