Nuerofibromatosis

1 What is Nuerofibromatosis?

Neurofibromatosis is a genetic disorder, which causes nerve tissue tumors. These tumors can grow on any part of the nervous system: 

  • brain
  • nerves
  • spinal cord

The growths are usually benign or noncancerous, but in rare cases, can become malignant or cancerous. While symptoms are often mild, the complications can sometimes be severe. 

Hearing loss, learning disabilities, cardiovascular diseases, visual impairment and severe pain are some of the possible complications.

2 Symptoms

Neurofibromatosis is divided into three types and the signs and symptoms differ with each type. 

Neurofibromatosis 1 or NF1. NF1 usually occurs in childhood. Most of the time, the signs can be obvious at birth or shortly after birth. 

These are usually mild to moderate symptoms:

  • Cafe au lait spots. These are the flat, light brown spots on the skin that are usually harmless. However, if the child has more than six of this , it could positively mean NF1.
  • Freckles on the armpits or groin. By age 3 to 5, freckling on these areas may appear and tend to come up in clusters.
  • Lisch nodules. These are tiny bumps on the iris of the eye. Although harmless and doesn’t affect the vision, lisch nodules can mean the child has NF1.
  • Neurofibromas. These benign tumors grow on or under the skin.
  • Bone deformities. When bone grows abnormally or if there’s a deficiency in bone mineral density, bone deformities like scoliosis or bowed leg can occur.
  • Optic glioma. Usually appears by age 3, optic glioma is a tumor that grows on the optic nerve. It is a rarity in adults.
  • Learning disabilities. Children with NF1 usually have impaired thinking skills and learning disabilities. ADHD or attention-deficit/hyperactivity disorder is also common in children with the disorder.
  • Head size is larger than average. Due to increased brain volume, children with NF1 tend to have a larger than normal head size.
  • Short stature. Below average height are common with NF1 children.

Neurofibromatosis 2 or NF2 is a much less common type of neurofibromatosis. The signs and symptoms are usually caused by the development of noncancerous, slow-growing tumors in both ears and appear in the late teen to early adulthood. These include:

  • Gradual loss of hearing
  • Ringing in the ears
  • Headaches
  • Poor sense of balance

In some cases, NF2 can result in growth of schwannomas in cranial, spinal, optic, peripheral nerves, and other nerves of the body. 

The growth of schwannomas may cause numbness and weakness in the legs or arms, balance difficulties, pain, facial drop, and vision problems. 

Schwannomatosis. This is the third type of neurofibromatosis. It is a rare condition that usually affects people aged 20 and up. 

Cranial tumors and tumors on the spinal and peripheral nerves characterize schwannomatosis. Symptoms may include chronic pain, loss of muscle, and numbness or weakness in various body parts.

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3 Causes

Genetic mutations or defects are the main cause of neurofibromatosis. It can either be passed on by a parent or spontaneously occur upon conception. 

The genes involved generally depend on the type of neurofibromatosis.

4 Making a Diagnosis

Diagnosis of nuerofibromatosis will start with the basic physical examinations and a walk-through on your own medical history and family medical background. 

Diagnosis may also involve:

  • Ear exam. Audiometry,  brainstem auditory evoked response, and electronystagmography can be used to assess hearing issues and problems in balance, particularly in people with NF2.
  • Imaging tests. To identify bone abnormalities and tumors, imaging tests like X-rays, CT scans, and MRI scans may be done. 
  • Genetic tests. Genetic tests to identify NF1 and NF2 can be done prenatally.

5 Treatment

While there is no cure for neurofibromatosis, most of the signs and symptoms can be treated. 

Monitoring

If a child is affected with NF1, age-appropriate checkups and monitoring should be done. Monitoring involves: 

  • assessment of the skin
  • checking for signs of high blood pressure
  • evaluating the child’s development, including its weight, height, and head circumference

During early puberty, signs and symptoms are kept in check, as well as the changes and abnormalities on the child’s skeletal system. 

A complete eye examination and learning development assessment will also be done regularly.

Surgery and other procedures

In severe cases when symptoms are more pronounced and there are complications, special procedures must be made. 

Surgery to remove tumors may be suggested by your doctor. Complete removal of schwannomas, removal of damaging tumors, and removal of acoustic neuromas are just some of the surgical procedures that are often needed. 

In some cases, acoustic neuromas are removed through stereotactic radiosurgery to prevent hearing loss. In case of a hearing loss in NF2, auditory brainstem implants and cochlear implants

Cancer treatment

Standard cancer therapies like surgery, chemotherapy and radiation therapy are used in treating malignant or cancerous tumors associated with neurofibromatosis. 

Pain medications

Pain medications are important, particularly in treating chronic pain associated with schwannomatosis. 

Medications for nerve pain, tricyclic antidepressants, serotonin, norepinephrine reuptake inhibitors, and epilepsy medications are commonly prescribed depending on the symptom and severity of pain.

6 Risks and Complications

There are several risks and complications associated with nuerofibromatosis.

Family history of the disorder is the biggest risk factor for neurofibromatosis. Almost 50% of people with the disorder inherited the disease, while the remaining number had NF1 and NF2 as a result of gene mutations at conception. 

Both NF1 and NF2 are autosomal dominant disorders, meaning a parent with the disorder has 50% chance of passing it on to his or her child. 

Complications for the disorder may vary depending on the case. 

NF1 complications include:

  • Neurological problems
  • Visible spots
  • Skeletal problems
  • Vision problems
  • Problems associated with hormonal changes
  • Cardiovascular problems
  • Breathing issues
  • Cancer
  • Benign adrenal gland tumor

NF2 complications include:

  • Partial or total loss of hearing
  • Damage of the facial nerves
  • Vision problems
  • Skin schwannomas
  • Weakness in the extremities
  • Multiple benign tumors

Debilitating pain is the most common complication of schwannomatosis.

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