Neurofibromatosis (NF) Clinic

Neurofibromatosis (NF) is a multisystem genetic condition that affects the skin and nervous system. A broad spectrum of neurofibromatosis conditions exists with the most common being NF1 and NF2. These conditions occur in one in every 2,000 births. This is a growing population that is cared for by many subspecialties in the hospital system. Our comprehensive clinic is made up of providers from five main specialties including:

• Neurology
• Neuro Oncology
• Genetics
• Developmental Behavioral Pediatrics
• Psychology
• Ophthalmology

Coordination with other specialties can be arranged to provide comprehensive care depending on each patient’s individual needs.

Patients are seen from birth to age 25. New cases are accepted until age 21. The NF clinic also provides coordinated care for children with similar conditions. This includes NF2, which is less common than NF1 and usually diagnosed in early adolescence, and schwannomatosis, a condition that causes a different type of noncancerous tumor.

If your child has NF1, they may experience frequent headaches, uncontrolled seizures, ADHD, skeletal abnormalities, blood pressure issues, gastrointestinal problems and other conditions requiring the care of numerous specialists. These symptoms may also change as your child grows. They may also require chemotherapy or surgery.

To get a diagnosis for NF1, two or more of the following clinical criteria are required:

• Optic Pathway Glioma (tumor of the visual pathway)
• Two or more Lisch nodules or two or more choroidal abnormalities
• Freckling in the axilla (armpit) or groin*
• Six or more cafe-au-lait macules* (brown skin spots)
  • Greater than 5 mm in pre-pubertal children
  • Greater than 15 mm in post-pubertal individuals
• Two or more neurofibroma tumors of any type, or one plexiform neurofibroma
• A distinctive osseus lesion such as: sphenoid dysplasia; anterolateral bowing of tibia (tibial dysplasia); or pseudoarthrosis of a long bone
• A parent with NF1 based on diagnostic criteria
• A pathogenic NF1 gene variant

*At least one of the two pigmentary findings (cafe-au-lait macules or freckling) should be bilateral.

The Akron Children's Comprehensive Neurofibromatosis (NF) Clinic was established in 2020 and is led by an Oncologist and Neurologist. The clinic’s goal is to provide quality, evidence based, comprehensive care to NF patients in a method that streamlines care for patients and their families. Through Outreach and Education support is provided to patients, families, and primary care providers. Our team of specialists encompasses many areas of expertise, enabling us to tailor care specifically to each patient’s individual needs.

Our team has experience in all areas of NF care, with a special emphasis on:

• Tumor Surveillance, Monitoring, and Interventions
• Management of chronic headaches/migraine
• Seizure Control & Management
• Genetic Counseling
• Learning Disabilities and Attention Deficit Hyperactivity Disorder (ADHD)
• Optic Pathway Gliomas (OPGs)

Visits in our comprehensive clinic last 3-4 hours and include consultation with 4-5 specialists followed by an ophthalmologic evaluation. Coordination with additional pediatric specialists (endocrinology, orthopedic surgery, etc.) is available based on patient needs.

There is currently no cure for Neurofibromatosis (NF) or Schwannomotosis. The Akron Children’s Neurofibromatosis Clinic offers comprehensive therapies to help control symptoms of NF and promote the highest quality of life for individuals living with NF. These interventions can include surgical removal of tumors, novel chemotherapies, and advance services to help diagnose and treat tumors.

Evaluation and Diagnosis for Patients with Suspected Neurofibromatosis:

• Our mini-clinic offers evaluation for diagnosis of neurofibromatosis and other related disorders. Our specialists can order molecular genetic testing to confirm diagnosis.
•  Patients who do not require complex services for their NF Diagnosis can follow in the mini-clinic yearly for up-to-date surveillance and evidence-based care related to their NF.

Families are encouraged to take advantage of these useful resources:

• Children’s Tumor Foundation - https://www.ctf.org/
• Neurofibromatosis Network - https://nfnetwork.org/
• Akron Children’s clinical trials – https://www.akronchildrens.org/cgi-bin/clinical_studies/search.pl
• Clinical trials.gov - https://clinicaltrials.gov/

Akron Children's Neurofibromatosis Conference 2024: Part 1

Akron Children's Neurofibromatosis Conference 2024: Part 2