Neurofibromatosis
Neurofibromatosis is a genetic disease that affects the growth of cells in the nervous system As a result, tumors develop in nerve tissues Such tumors can form anywhere in the nervous system, including the brain, spinal cord, and nerves. Neurofibromatosis is usually diagnosed in childhood or adolescence
Tumors are mostly benign, however, in some cases, tumors become malignant. People with neurofibromatosis often have only mild symptoms The effects of neurofibromatosis can manifest as hearing loss, learning problems, and cardiovascular complications However, there may be more severe symptoms, such as severe disability caused by the tumor pressing on the nerves, loss of vision, and severe pain.
The treatment of neurofibromatosis is aimed at the maximum healthy growth and development of the child and at the regulation of complications as soon as they arise. When neurofibromatosis causes large tumors that encroach on the nerves, surgery may be necessary For some people, other types of therapy are helpful, such as stereotactic radiosurgery, medications to control pain, or physical therapy.
Neurofibromatosis is caused by genetic defects (mutations) that are passed from parent to child or develop spontaneously after conception. Each form of neurofibromatosis is caused by a different gene mutation
Neurofibromatosis 1 The gene causing neurofibromatosis 1 is located on chromosome 17 Under normal conditions, this gene produces the protein neurofibromin, which is abundant in nervous system tissues and regulates cell growth. A mutation in this gene causes the loss of neurofibromin, causing the cells to grow out of control
Neurofibromatosis 2 A similar problem develops during neurofibromatosis type 2 The gene for this disease is located on chromosome 22 and it produces the protein Merlin A mutation in this gene leads to the loss of Merlin, which also results in uncontrolled cell growth
Schwannomatosis Schwannomatosis may be linked to a gene on chromosome 22 Mutations of other genes may also be involved in the development of schwannomatosis Schwannomatosis may be hereditary or acquired (spontaneous). However, the exact reason for its formation is unknown
There are three different types of neurofibromatosis with different symptoms
Neurofibromatosis 1 Neurofibromatosis 1 usually develops in childhood Symptoms:
- Flat, light brown spots on the skin These harmless spots are common in this form If you have more than 6 such spots, you are likely to have neurofibromatosis 1 Spots usually appear at birth or in the first years of life Spots are not harmful, but are often the cause of cosmetic problems
- Freckles in armpits and groin area Such freckles appear at the age of 4-5 years
- Soft bumps on or under the skin (neurofibromas) Neurofibromas are benign tumors that can appear anywhere in the body Many people have these growths on or under the skin, although neurofibromas can also grow inside the body. In some cases, the growth involves multiple nerves
- Small growths on the colored membrane of the eye (Lish nodules) Leish nodules are harmless lesions in the eye that are difficult to recognize at first glance They do not affect vision Doctors can detect such injuries with special tools
- Bone deformations Problems with the direction of bone growth and a lack of mineral substances in the bone lead to their deformation, such as a curvature of the spine (scoliosis) or a bent lower limb
- Learning problems Impaired thinking skills are common in children with neurofibromatosis 1, although the symptoms are mild Children may have problems with language, vision and spatial perception Children with neurofibromatosis 1 often have a specific learning disorder, such as attention deficit hyperactivity disorder.
- Larger than normal head size Children with the disease have larger-than-normal heads and larger-than-normal brain volumes, although it is not known whether these findings are associated with thought disorders.
- Low body Children with the disease grow shorter than average
Neurofibromatosis 2 Neorifibromatosis 2 is much rarer than neurofibromatosis 1 Symptoms of neurofibromatosis 2 result from the development of a vestibular schwannoma (acoustic neuroma) in both ears.
These benign tumors grow on the nerves that carry sound and balance information from the inner ear to the brain (eighth cranial nerve). Symptoms that develop as a result of this process appear in late teens or young adulthood:
- Progressive hearing loss
- Ringing in the ears
- Balance
In some cases, neurofibromatosis 2 causes schwannomas in other nerves in the body, including cranial, Symptoms:
- Facial muscle relaxation, drooping
- Decreased sensation and weakness in the upper and lower limbs
- Pain
- Balance problems
This form of neurofibromatosis may also cause vision problems. Such problems are caused by the abnormal growth of the retina (mostly in children) or the formation of cataracts.
Schwannomatosis Schwannomatosis is a rare and newly discovered form of neurofibromatosis. It rarely occurs in patients under 20-30 years of age Schwannomatosis causes the development of painful tumors called schwannomas Schwannomas occur on cranial, spinal, and peripheral nerves, although they do not form on the nerve that carries information from the inner ear to the brain for sound and balance (eighth cranial nerve).
Because tumors do not grow on this nerve, schwannomatosis does not cause hearing loss, which distinguishes it from neurofibromatosis type 2. However, like neurofibromatosis type 2, schwannomatosis does not cause cognitive impairment. Schwannomatosis usually causes chronic pain that can develop in any part of the body
When to see a doctor If you or your child has symptoms of neurofibromatosis, see your doctor Tumors associated with neurofibromatosis are usually benign and slow growing Although early diagnosis and monitoring of complications are needed, the situation is not an emergency
