NEUROFIBROMATOSIS

Description

Genetic disorder that causes tumors on brain and spinal cord there are two types both of which causes tumor growth in body parts.

Symptoms

Type1

  1. Flat, light brown spots on the skin (cafe au lait spots)
  2. Freckling in the armpits or groin area
  3. Tiny bumps on the iris of your eye (Lisch nodules)
  4. Soft bumps on or under the skin (neurofibromas)
  5. Bone deformities
  6. Learning disabilities.
  7. Larger than average head size
  8. Short stature

Type2

  1. ringing in the ears
  2. problems with balance
  3. glaucoma (an eye disease that damages the optic nerve)
  4. hearing loss
  5. vision impairment
  6. numbness or weakness in the arms and legs
  7. seizures

Causes

  • a genetic mutation, which is a permanent change in the DNA sequence
  • family history
  • Schwannomatosis
  • mutation of NF1 gene on chromosome 17
  • mutation of NF2 gene on chromosome 22
  • sporadic mutation of NF2

Risk Factors

  • family history
  • NF1 and NF2 are both autosomal dominant disorders

Complications

NF1

    Neurological problems
    Vision problems. 
    Problems during times of hormonal change
    Benign adrenal gland tumor (pheochromocytoma)

NF2

  • Partial or total deafness
  • Facial nerve damage
  • Vision problems
  • Small benign skin tumors (skin schwannomas)
  • Weakness or numbness in the extremities
  • Multiple benign brain tumors or spinal tumors

Diagnostic Tests

  • audiometry
  • CT scan
  • MRI scan
  • balance tests
  • vision tests
  • genetic testing
  • blood test

Treatments

  • chemotherapy and radiation therapy
  • Surgery to remove tumors
  • Auditory brainstem implants and cochlear implants

Medications

  • Gabapentin (Neurotin) or pregabalin (Lyrica) for nerve pain
  • Tricyclic antidepressants such as amitriptyline
  • Serotonin and norepinephrine reuptake inhibitors such as duloxetine (Cymbalta)
  • Epilepsy medications such as topiramate (Topamax)
  • carbamazepine (Carbatrol, Tegretol)

Lifestyle Management

  • Join a support group for parents who care for children with neurofibromatosis
  • Accept help for daily needs such as cooking, cleaning, caring 
  • Seek academic support for children with learning disabilities.