What is Neurofibromatosis ?
Neurofibromatosis is a neurological disease that is genetically inherited. It is a condition that causes benign tumors to grow in any part of the body, including the nerves, the brain and spinal column among others. The tumor that develops would literally squish and compress the surrounding areas of the body, hence, would greatly alter the normal functioning of the said body part. Although in most cases, the tumors that grow are not cancerous, rare incidences had been reported that the mass growth can be cancerous as well. This condition is most prevalent in children between ages 3 and 16.
What are the types of neurofibromatosis?
Neurofibromatosis, or most commonly called NF, has 2 types, namely NF1 and NF2.
- Neurofibromatosis type 1 (NF1) – NF1 is also medically known as Recklinghausen NF. This type of neurofibromatosis is characterized by the brown cafe au laite spots commonly situated on the back portion of the body. These café au laite spots are hyperpigmented marks on the skin which range from light to dark brown in color. Scoliosis can likewise be present with NF1. In NF1, the nerves in the brain and the spinal column are being compressed so alterations in the normal flow of the nerves and signals to the brain are damaged or delayed. In most of the cases, patients with NF1 have learning disabilities or are categorized as slow learners.
- Neurofibromatosis type 2 (NF2) – This is also referred to as Bilateral Acoustic NF (BAN). BAN is characterized by tumors as well as lesions growing on the spinal cord and cranial nerves. This is a more serious and rare type of neurofibromatosis. The auditory nerves are also damaged so hearing impairment or even loss of hearing is a possibility.
The main cause for neurofibromatosis is either because of genetic mutation or the inheritance of abnormal genes from the parents by the baby.
What are the signs and symptoms of neurofibromatosis?
The general symptom of neurofibromatosis is the presence of café au laite spots and the discoloration of skin. These spots appear as a cluster of bumps found usually at the back of the person afflicted with neurofibromatosis, but these may also spread throughout the body depending on the severity of the condition. Other common symptoms of NF are freckles near the armpits and the groin area.
- The symptoms of neurofibromatosis type 1 would include the following:
- An abundance of café au laite marks scattered over a certain body part and the visible presence of freckles in the groin and armpit regions.
- Noticeable bumps underneath the skin called neurofibromas. These are benign tumors, or mass of bundled tissues that does not cause cancer.
- Obvious tiny mass growths called Lisch nodules in the iris of the eye.
- Deformation of bones and curvature of the spinal column (scoliosis).
- Growth of tumor near the optic nerves that might cause slight disturbances to the eye sight.
- Some signs of neurofibromatosis type 2 are:
- Muscle fatigue or weakness that would result to poor balance and constant feeling of tiredness.
- Sudden dizziness that might cause one to lose his balance.
- Because neurofibromatosis compresses the auditory nerves, a problem with hearing would arise.
- Presence of cataracts in the eyes.
How is neurofibromatosis diagnosed?
In order to confirm the presence of the disease, diagnostic tests will be conducted. These tests will also help detect which type of neurofibromatosis the patient is suffering from. One of the first things the doctor would do is to conduct a physical check up of the patient to assess the presence of café au laite spots and feel any bumps or signs of tumor on or underneath the skin. Afterwhich, the physician will run some diagnostic tests which may include Magnetic Resonance Imaging (MRI) and CT scan. These will help the doctor see clearly where the tumors have grown. A cheaper alternative for these is X-ray. A biopsy of one of the tumors might also need to be done in order to make sure that the tumor is not cancerous.
What are the treatment options for neurofibromatosis?
There is still no cure for neurofibromatosis. The only way to manage the disease is to control or correct the associated symptoms. Surgery would be advised for the removal of the unwanted tumors in order for the affected body parts to function well. For individuals who had developed scoliosis, surgical procedure can also be recommended in order to correct the posture.
If the biopsy showed that the tumor is cancerous, chemotherapy and radiation would be the best treatment option for the patient. If the patient has developed a cataract, an eye surgery could be performed in order to get rid of the cataract before it gets too big.
Neurofibromatosis may seem alarming, and if not given the proper attention, the condition could get worse and even lead to death. But NF can be battled by controlling the symptoms and the giving appropriate medical attention to it before it gets worse.