Neurofibromatosis - Causes, Symptoms, Diagnosis and Treatment

What Is Neurofibromatosis?

Neurofibromatosis is a genetic disorder characterized by tumor growth in the nervous system. These tumors can develop anywhere in the nervous system, including the brain, nerves, and the spinal cord. Mostly these tumors are non-cancerous. However, rarely can they turn cancerous or malignant. They may pressurize the nerves and other structures, causing serious damage to them. One may diagnose it in early childhood or later on. Neurofibromatosis poses many complications, from learning impairment, hearing loss, heart and blood vessel problems, loss of vision, severe pain over body parts, and cancers.

What Causes One to Develop Neurofibromatosis?

Neurofibromatosis is essentially developed due to a genetic defect. This means that certain genes in the body undergo defective changes (mutation). According to studies, most of the time, it may be inherited from a parent, or the gene mutation may happen spontaneously. The inherited type of neurofibromatosis is an autosomal dominant condition, which means only one parent needs to carry the gene for it to get passed on to the children. If one of the parents has neurofibromatosis, each of their children has a fifty percent chance of developing the disease.

What Are the Types and Symptoms of Neurofibromatosis Seen Among the General Population?

The type of neurofibromatosis depends on what gene is involved. And generally, three main types of neurofibromatosis affect the population:

1. Type 1 - Where the NF1 gene is involved and is connected to the protein neurofibromin. This is the most common type of neurofibromatosis. Statistically, one in three thousand children are affected by type 1 neurofibromatosis. It is commonly presented in early childhood, mostly within the first six to twelve months. The symptoms are:

• One may first notice some abnormal skin marks known as Cafe au lait spots. They are flat brown spots measuring about five millimeters in size and may be found on both sides of the body, arms, legs, and trunk. Very rarely, they occur on the face and skull. Sometimes, these brown spots may turn into cancers with time.

• The child may develop the second sign typically by eight years of age, which are freckles in the armpits or groin area.

• Tiny growths in the iris (the colored area of the eye).

• Soft pea-sized bumps under the skin.

• Bone deformities like a bowed leg or twisted spine.

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• A tumor affecting the optic nerve, also known as optic glioma, may cause loss of eyesight.

• Children show developmental delays and learning difficulties as well. At least fifty to sixty percent of affected children suffer learning impairment and attention issues.

2. Type 2 - Where the NF2 gene connected to the protein Merlin is involved. It typically does not present itself until one reaches twenty years of age. And it may cause:

• Tumor formation.

• Loss of hearing.

• Balancing problems.

• Ringing in the ear.

• Dizziness.

• Muscle weakness of the face.

• Uncoordinated walking.

• Frequent headaches and cataract formation.

• Chronic pain can be debilitating and can occur anywhere on the body.

• Numbness and weakness with loss of muscles over body parts.

3. Type 3 -This is known as schwannomatosis. It was explored by researchers only in the recent past. Schwannomatosis mostly includes tumors on the spinal cord and small nerves. And they generally develop over thirty years of age.

How Is Neurofibromatosis Diagnosed?

The doctor will ask for the family history and personal medical history of the affected individual and do a thorough physical examination. One may specifically look for Cafe au lait spots using special lights. Earlier, these brown spots were thought to be simple birthmarks. It was not until years ago they figured out that if there are more than six Cafe au lait spots on the skin, it could be neurofibromatosis type 1. Following are the additional tests conducted:

• Eye examination to look for growths, spots, vision problems, cataracts, or tumors over the optic nerve (nerve inside the brain that connects to the eyes)

• Hearing tests - To look for loss of hearing and tumors in the inner ear.

• Tests to check body balancing ability, muscle weakness, and coordination.

• Imaging studies, including magnetic resonance imaging (MRI), computed tomography (CT) scans, and X-rays, look for tumors and bone defects.

• Genetic testing for gene mutation also helps detect neurofibromatosis. However, it can be quite complicated and expensive.

What Are the Treatment Options for Neurofibromatosis?

Neurofibromatosis is not a condition that can be cured, but the symptoms can be managed effectively to some extent to make the child comfortable and improve the quality of life. One should keep observing the brown spots as the child grows to see if they are developing into cancer. As the child ages, they may develop into neurofibromas or tumors on the small nerves of the body. They may occur on the skin or just under the skin's surface and can also form tumors in the brain or spinal cord. One may follow the strategies listed below:

1. It is required to conduct age-appropriate follow-ups. Monitor for new growths in the body or see if the existing lesions show any new changes. One should also periodically monitor the blood pressure and see if any new bone deformities develop in the body.

2. Neurocognitive testing can be conducive to helping with learning difficulties.

3. Neurosurgeons and oncologists should be included in the care when one is affected by a brain or spinal cord tumor. One may need surgery to remove the tumors that compress the nerves and cause pain, numbness, and weakness. If the tumors turn cancerous, one may need chemotherapy and radiation therapy to treat them.

4. Bony defects, too, require corrections with surgery. So, one may involve an orthopedic surgeon if there is increased spine curvature or scoliosis.

5. Physical therapy may help to deal with walking and balancing issues.

6. A psychologist will assess and deal with developmental delays and learning difficulties. The child’s progress at school and level of learning needs to be followed up.

7. Do routine eye examinations to look for vision loss or new changes inside the eyes.

8. One may need medicines to manage the pain. Sometimes, doctors prescribe medicines that suppress immune reactions as well.

Conclusion:

With early diagnosis, one can be under a doctor's care from the start of the disease. This ensures better treatment outcomes and a much lesser burden from the disease. Neurofibromatosis is a condition that affects one’s quality of life severely. The affected child's family must be educated on what to expect in the future concerning disease progression. Doctors always recommend that families join support groups where they can avail good advice and the best options to improve the living status of their child.