NeurofibromatosisBrianna Campbell

What Is It?

• Neurofibromatosis (NF) is a neurocutaneous syndrome that can affect many parts of the body, including the brain, spinal cord, nerves, skin, and other body systems. NF can cause growth of non-cancerous tumors on nerve tissue, producing skin and bone abnormalities.

• 3%-5% of neurofibromas ever become cancerous

• Two types (N1 & N2)

Signs/Symptoms

• First appears most often in children ages 3-16

• Presence of brown café au lait spots. These distinctive spots don't hurt or itch and never progress to anything more serious than spots

• Learning Disabilities

• Bone Deformities

• Pain

• Numbness and Dizziness

• Trouble Sleeping

Causes

• Chromosome 17 produces a protein called neurofibromin. Mutation causes cell growth to go uncontrolled

• Chromosome 22 produces a protein called Merlin which also helps regulate cell growth, mutation of this causes uncontrollable cell growth

Diagnostic Findings & Expected Outcomes

• Usually diagnosed in during a Physical

• Eye, Ear, Imaging, and Genetic Testing

• Surgery

• Cancer

• Life with symptoms

Complications

• Neurological Problems

• Skeletal Problems

• Visual Difficulties

• Increase in Neurofibromas

• Cardiovascular Problems

• Cancer

• Facial Nerve Damage

• Spinal Tumors

Interventions

• Surgeries: Orthopedic, Vascular

• Height & Weight should be charted frequently, especially in children

• Examine Heart

• Check for Skeletal involvement

• Treat Symptoms

• Reproductive Counseling

• Check Skin for lesions

• Life long monitoring

• Auditory Rehabilitation (Type 2)

Medical Personnel

• Family Physician (Ph.D.)

• Pharmacist (Ph.D.)

• Cardiologist (Ph.D.)

• Audiologist (Ph.D.)

• Ophthalmologist (Ph.D.)

• Orthopedic Surgeon (Ph.D.)

• Neurologist (Ph.D.)

• Geneticist (Ph.D.)

Patient Teachings & Community Resources

• Children's Tumor Foundation

• Psychological Counseling

• Genetic & Parental Planning Counseling

• Get Involved

Interview

• How long have you had NF?

- I was diagnosed about 8 years ago

• How often do you experience symptoms?

- Most days I have so much pain in my back that its hard for me to sleep. I don’t get the brown spots on my body anymore but I still get dizzy sometimes and I think my vision is messed up because of the disease

• Do you take any medications to help your symptoms?

- I used to take a medicine to help slow down the development of tumors on my back but they made me sick to my stomach so I don’t take them anymore. I wear glasses for my eye sight, and I take pain medication every once in a while for my back. Other than that I don’t take any medicine.

• What type of doctor do you see the most often?

- I just see my regular doctor most of the time and if he has any concerns he sends me in to get an MRI.

• Have you had to have any surgeries related to this disease?

- No

• Do you have any learning disabilities?

- Not that I know of

Sources

• "KidsHealth." Neurofibromatosis. N.p., n.d. Web. 25 Dec. 2013. <http://kidshealth.org/parent/general/aches/nf.html>.

• "Living with NF." CTF. N.p., n.d. Web. 25 Dec. 2013. <http://www.ctf.org/pdf/brochures/NF1-Brochure.pdf>.

• "Patient.co.uk - Trusted medical information and support." Patient.co.uk. N.p., n.d. Web. 25 Dec. 2013. <http://www.patient.co.uk/doctor/Neurofibromatosis.htm>.

• staff, Mayo. "Definition." Mayo Clinic. Mayo Foundation for Medical Education and Research, 3 Jan. 2013. Web. 25 Dec. 2013. <http://www.mayoclinic.com/health/neurofibromatosis/DS01185/DSECTION=symptoms>.

• Barnett, Tristan. Phone interview. 24 Dec. 2013.

• Korf, Bruce R.. Neurofibromatosis: a handbook for patients, families and health-care professionals. New York, NY [u.a.: Thieme Med. Publ. [u.a.], 1990. Print.