Neurofibromatosis, also referred to as NF is a genetically inborn disorder of the nervous system (spinal cord & brain). It largely affects the growth of neural (nerve) cell tissues, resulting in tumors (neurofibromas) to grow on nerves & may cause other deformities as well. Neurofibromatosis has approximately 50 percent chances of occurrence in children who have one parent with the mutated gene. Tumors may be painless or may restrict nerves & other tissues causing severe damage. In rare cases, these tumors may become cancerous. Neurofibromatosis treatments intent is to increase healthy growth & to regulate complications as soon as they arise. When neurofibromatosis causes large tumors that press on a nerve, dedicated surgery can help calm the symptoms. Some patients may benefit from pain medications or other therapies such as stereotactic radiosurgery.
What is Neurofibromatosis?
Neurofibromatosis is a genetic disorder of the nervous system which causes formation of tumors on the nerve tissue. Neurofibromatosis can primarily be diagnosed in early adulthood or childhood. Tumors can grow anywhere in the nervous system, including nerves, brain & spinal cord. These tumors are generally non-cancerous (benign) in nature but sometimes can become malignant (cancerous) as well. Symptoms of neurofibromatosis are often mild. However, complications associated with neurofibromatosis can include severe pain, hearing loss, learning impairment, loss of vision & cardiovascular (heart &blood vessel) problems.
Neurofibromatosis is generally passed on by family members through genes. But according to reports, nearly 45 percent of patients diagnosed with this disorder have no family history of the condition. It is assumed that it might have developed automatically through a change (mutation) in the genes. Genes that are specifically involved reckon on the type of neurofibromatosis.
- NF1 Gene – This gene is positioned on chromosome 17. It normally creates a protein known as neurofibromin which helps supervise cell growth. Mutated genes cause failure in production of neurofibromin, which allows cells to multiply uncontrollably.
- NF2 Gene – This gene is located on chromosome 22. It is responsible for the production of a protein called merlin. Mutated genes cause a loss of merlin, resulting in uncontrolled multiplication of cells.
- Schwannomatosis – According to clinical researches, two genes are found to cause schwannomatosis.
Biggest risk factor for this disorder is family history of neurofibromatosis. According to latest medical research, around half of patients with NF1 & NF2 inherited the disease. NF1 & NF2 that is not inherited in patients, sometimes result from new gene mutations. However, the inheritance pattern for schwannomatosis is less understood. Researchers currently believe that risk of acquiring schwannomatosis from an affected parent is about 12 percent.
Signs & Symptoms of Neurofibromatosis
Mainly, there are enumerated three types of neurofibromatosis, each with different signs & symptoms.
NF1 mostly appears in childhood. Signs are often visible at birth or right afterwards by the age of 9. Following are major signs & symptoms of NF1, which are often moderate, but can vary in severity.
- Flat & Light Brown Spots – These harmless spots are commonly seen on the skin of many patients. These spots are known as ‘café au lait’ spots & if patients have more than six cafe au lait spots, it strongly indicates presence of NF1. They are generally present at the time of birth or may grow during initial years of life.
- Freckling in the Armpits or Groin Region – Freckling appears in children by the age of 2 to 5 years. Freckles are much smaller in dimension than cafe au lait spots.
- Lisch Nodules – These are harmless small bumps which usually appear on the iris of patient’s eye.
- Neurofibromas – These tumors are benign in nature & mostly develop in or under the child’s skin.
- Bone Deformities – Abnormal growth of bones & deficiency in bone mineral density can cause bone impairment like bowed lower leg or curved spine (scoliosis).
- Tumor on Optic Nerve (Optic Glioma) – These tumors crop up by the age of 2 years, rarely in late childhood & adolescence.
- Learning Disabilities – Impaired learning skills are always seen in children with NF1, but are generally mild. Learning disabilities, such as problem with reading or mathematics are observed. Attention-deficit/hyperactivity disorder (ADHD) is also noticed in children with NF1.
- Larger Head Size – Children with NF1 tend to have a head which is larger than average head size due to enhanced volume of brain.
- Short Stature – Often, children with NF1 have small heights.
NF2 is less common than NF1. Symptoms of NF2 mostly result from growth of benign, slow-growing tumors known as acoustic neuromas in both ears. These tumors are also called as vestibular Schwannomas. They grow on the nerve that transfers sound & balance information from the innermost ear to the brain. Following signs & symptoms of NF2 generally appear in late teen & early adulthood years & may also vary in severity.
- Ringing in ears
- Gradual hearing loss
- Poor balance
Sometimes, NF2 can lead to development of schwannomas in other nerves of body, including spinal, cranial, optic (visual) & peripheral nerves. Signs & symptoms of these schwannomas include the following.
- Facial drop
- Vision problems
- Numbness & weakness in arms or legs
- Severe pain
- Balance difficulties
- Development of cataracts
This is a rare type of neurofibromatosis which usually affects patients after the age of 20 years. Schwannomatosis causes tumors to grow on spinal, cranial (skull) & peripheral nerves, but not on the nerve that bears sound & maintains information from the inner ear to the brain. Usually, these tumors do not develop on both hearing nerves & therefore, schwannomatosis does not cause any hearing loss experienced by patients with NF2. Schwannomatosis causes chronic pain, which can be experienced in any part of the patient’s body. Other symptoms may include the following.
- Weakness or numbness in various areas of patient’s body
- Loss of muscle
Parents should consult pediatric orthopedists or neurologists if they themselves or their children develop any of these signs & symptoms of neurofibromatosis. It is important to obtain timely diagnosis so that the situation does not become an emergency.
Doctors may begin with a physical evaluation & review patient’s health history & family medical history. Normally, NF1 can be easily diagnosed based on results of physical assessment. Doctors may use a special lamp to identify cafe au lait spots on skin. Along with physical examination & family history, doctors also might recommend the following tests.
- Eye Evaluation – An eye specialist can easily identify Lisch nodules & cataracts.
- Ear Evaluation – Tests such as electronystagmography, audiometry & brain stem auditory evoked response can aid assess hearing & balance issues in patients with NF2.
- Imaging Tests – CT scans, X-rays or MRI scans can help detect bone deformities, tumors in spinal cord or brain & very tiny tumors. MRI tests may also be used to detect optic gliomas. These imaging tests can also monitor NF2 as well as schwannomatosis.
- Genetic Tests – Specific genetic tests for detecting NF1 & NF2 are now available & can be performed prenatally. Patients should ask doctors & take genetic counseling. However, genetic tests for schwannomatosis are restricted.
Patient’s family doctor may refer them to a surgeon who specializes in brain & nervous system conditions (neurologist). Patients should also be well-prepared for the appointment. Following information may be helpful for patients to understand what to expect from the surgeon.
- Concerns – Patients should write down a list of all doubts & concerns & also make a note of when they first started to experience these symptoms.
- Health Report – Copy of complete medical & family history should be brought to the hospital if the doctor does not already have it.
- Personal Information – Patients should make a note of key personal information, including any recent life changes or major stresses.
- Medications – Patients should make a list of all medications, vitamins & herbal supplements that they are currently taking.
- Pictures – Photographs of family members, living or deceased, who have had identical signs & symptoms, should be brought to the clinic during initial appointment.
- List of Questions – Think of all the important questions to ask doctors.
Patient’s time with the doctor is limited, so preparing a list of queries & doubts can save precious time. Few important questions which may be asked to surgeons are listed below.
- What is neurofibromatosis?
- What type of neurofibromatosis is suspected?
- Is neurofibromatosis a life threating disease?
- What treatment do you suggest for neurofibromatosis?
- What are the benefits of recommended treatment?
- What are the potential risks & complications of the suggested method of treatment?
In addition to these questions, patients can ask anything to surgeons regarding treatment of neurofibromatosis.
Neurofibromatosis cannot be completely cured, but several efficient treatments are available for easing signs &symptoms. Sooner it is detected, the better are the chances of successful outcomes.
- Monitoring – When a child has NF1, the pediatric orthopedist will likely suggest yearly age-appropriate checkups for the following reasons.
- To assess child’s skin for changes in existing neurofibromas or for identifying new neurofibromas.
- For checking signs of high blood pressure
- For examining child’s growth & development including weight, height & head circumference, according to standard growth charts available for children with NF1.
- For checking signs of early puberty.
- For evaluating the child for any abnormalities & skeletal changes.
- For checking child’s learning development & progress in school.
- For obtaining a complete eye evaluation.
It is extremely important to rule out the possibility of a cancerous tumor & to attain a suitable treatment at an early stage.
Doctors may suggest surgery or other procedures for treating serious symptoms & complications of neurofibromatosis.
- Surgery to Remove Tumors – Symptoms can be treated efficiently by removing all or portions of tumors that are compressing surrounding tissues or affecting nearby organs. If patients have NF2 & have experienced brainstem compression, hearing loss or tumor growth, doctors may recommend surgical removal of acoustic neuromas that are causing problems. Complete elimination of schwannomas in patients with schwannomatosis can substantially ease the harsh pain.
- Stereotactic Radiosurgery – During this procedure radiation is delivered precisely to the tumor & does not need any incision. Stereotactic radiosurgery is an excellent option for removing acoustic neuromas if patients have NF2. Stereotactic radiosurgery also helps preserve the hearing ability of patients.
- Auditory Brainstem Implants & Cochlear Implants – These implants & devices might help enhance hearing if patients are suffering from hearing loss.
Managing pain is an essential part of treatment for schwannomatosis. Surgeons may recommend the following medications to relieve severe pain.
- Tricyclic antidepressants such as amitriptyline
- Pregabalin (Lyrica) or Gabapentin (Neurontin) for nerve pain
- Epilepsy medications such as carbamazepine (Carbatrol, Tegretol) or topiramate (Topamax)
- Serotonin & norepinephrine reuptake inhibitors such as duloxetine (Cymbalta)
Neurofibromatosis is an advancing & unpredictable disorder that is associated with a variety of clinical outcomes & complications. Recovery is dependent upon the patient’s age, severity of disease & which organ systems may be affected by the development of neurofibromas. Patients with NF1 & NF2 are subjected to developing other malignancies & tumors as well. Life expectancy of patients suffering from neurofibromatosis may be decreased by 12 to 15 years, most probably as a result of malignancies such as soft tissue sarcomas or peripheral nerve sheath tumors. Work limitations & accommodations may comprise considerations for visual or hearing impairment. It is important to follow instructions & guidelines of surgeons & maintain a healthy lifestyle to prevent any other problems.
Complications associated with neurofibromatosis vary, even within the same family. Mostly, complications result from tumor growth disfiguring nerve tissue or pressing on internal parts.
- 1NF1 Complications – Complications of NF1, generally, include the following.
- Neurological problems
- Learning & thinking issues
- Epilepsy & buildup of excessive amount of fluid in brain
- Cafe au lait spots
- Numerous neurofibromas in the facial area
- Anxiety or emotional stress
- Skeletal problems like osteoporosis
- Vision problems like optic gliomas
- Hormonal changes
- Cardiovascular problems
- Blood vessel abnormalities
- Breathing problems
- NF2 complications – Complications of NF2 include the following.
- Facial nerve damage
- Small benign skin tumors (skin schwannomas)
- Partial or total deafness
- Vision problems
- Numbness in extremities
- Multiple benign brain tumors
- spinal tumors (meningiomas)
- Schwannomatosis Complications – Severe pain can be caused by schwannomatosis.
Pain is relieved in a majority of patients with schwannomatosis. Some patients may experience emotional or psychological issues following treatment of neurofibromatosis. Patients may become isolated & detach themselves because they feel different from others. They may suffer from emotional or social stress concerning their appearance. Genetic or family counseling may help patients with neurofibromatosis.
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