Pediatric Neurofibromatosis (NF)

Neurofibromatosis 2 (NF2)

Neurofibromatosis 2 (NF2) – Much less common than NF1, this condition usually appears by the late teen (15 to 17 years*) or early adult years (18 to 25 years*). In this condition, tumors known as acoustic neuromas grow in both ears, affecting hearing and balance.

Schwannomatosis

Schwannomatosis – This rare condition typically affects individuals after age 20, and causes tumors to grow on the cranial (skull), spinal and peripheral nerves.

What are the signs and symptoms of Pediatric Neurofibromatosis (NF)?

Neurofibromatosis 1

Signs and symptoms of NF1 can vary in severity over time and include:

• Below average height
• Bone deformities
• Curvature of the spine (scoliosis)
• Flat, light brown spots on the skin (called café au lait spots)
• Learning disabilities
• Soft bumps on or under the skin (neurofibromas)
• Tiny bumps on the iris of the eye (Lisch nodules)
• Tumor on the optic nerve (optic glioma)
• Unusually large head

Neurofibromatosis 2

Individuals with NF2 may experience some or all of the following symptoms:

• Cataracts
• Difficulty balancing
• Facial drop (face has lost muscle tone and appears to be drooping)
• Gradual hearing loss
• Headaches
• Numbness and weakness in the arms or legs
• Pain
• Poor balance
• Ringing in the ear
• Vision problems

Schwannomatosis

The main symptoms of schwannomatosis are:

• Chronic pain anywhere in the body
• Loss of muscle
• Numbness or weakness anywhere in the body

*Age of late teen and early adult as defined by the Centers for Disease Control (CDC).

How is Pediatric Neurofibromatosis (NF) treated?

Neurofibromatosis 1

Children with neurofibromatosis 1 can develop several health conditions including fluid build-up in the brain, headaches, seizures, heart defects and high blood pressure. Children with NF1 may also have learning or behavioral challenges. Due to these conditions, medical treatment may include medication, surgery, radiation, or chemotherapy, among other interventions.

Coordinating Care

NF is the most common cancer predisposition syndrome in children. Managing this chronic disease year in and year out requires continuity of care with a focus on screening and access to subspecialists. To that end, the NF Program holds two clinics a week to accommodate annual or more frequent office visits for all patients. These visits allow us to track patient health and serve as the coordination point for regular screenings – ophthalmological and neuropsychology evaluations are common, for example.

Once a month, complex NF cases are brought before a comprehensive board of subspecialists to develop and coordinate medical treatment plans. The board includes not only medical subspecialists, such as neurologists, neuropsychologists and ophthalmologists, but also school services specialists and surgical subspecialists. Given this breadth of expertise, all NF-related issues receive the best possible treatment.

Pediatric Neurofibromatosis (NF) Research

Patients in the Gill Center’s Neurofibromatosis program have access to one of the country’s largest NF clinical programs, with the most up to date clinical therapies and research for patients with both NF1 and NF2. The Gill Center’s NF program has participated in a number of multicenter trials as well as research performed solely at our institution.

Currently, our program is participating in a multi-institution trial to follow NF associated optic gliomas, attempting to identify factors which indicate therapy may be necessary. Our NF program was also selected as a site for the clinical trial of Lovastatin™ in the learning issues associated with NF. Currently, three institutional studies are underway. Led by Dr. Alice Ann Holland of the neuropsychology, one clinical trial assesses the prevalence and possible health correlation of bullying in our NF patient population. The second study is a collaborative effort between Animesh Tandon, M.D., pediatric cardiologist and Dr. Klesse to study the prevalence of heart disease risk factor in pediatric NF patients. Finally, our program has a bio specimen repository aimed at collecting samples from both patients and family members to identify potential genetic modifiers of tumors associated with NF1.