Neurofibromatosis is a congenital condition (present at birth) that can cause skin and brain tumors and complications that can impair a child’s quality of life. At NewYork-Presbyterian’s Neurofibromatosis Clinics, a multidisciplinary team of specialists provides comprehensive care, support and guidance for children undergoing evaluation for neurofibromatosis as well as those diagnosed with these disorders. While there is no cure for neurofibromatosis, we can manage the condition to reduce your child's symptoms, minimize its cosmetic effects, and give your child the best chance to lead a healthy and normal life.
NewYork-Presbyterian’s Neurofibromatosis Clinics are affiliate clinics of the Children's Tumor Foundation Neurofibromatosis Clinic Network (NFCN).
What is Neurofibromatosis?
Neurofibromatosis (NF) is a group of disorders characterized by the growth of tumors in the nervous system. There are three types of NF:
- NF1 is the most common of the NFs. Symptoms may be present at birth or appear in infancy, and progress into adulthood. NF1 is characterized by tan (café au lait) macules on the skin, axillary/inguinal freckling, dermal neurofibromas, and iris Lisch nodules (dark raised spots). More concerning complications include plexiform neurofibromas, optic nerve gliomas, spinal tumors, skeletal abnormalities, vasculopathy, and malignancies. Some individuals with NF1 may have developmental and learning disabilities.
- NF2 is rarer, and early on may not be easily distinguishable from NF1 solely on physical examination. Many infants with NF2 are born with cataracts. Individuals with NF2 can develop tumors that grow on the eighth cranial nerve, which can lead to deafness and balance problems. Tumors of the peripheral nerves are also common.
- Schwannomatosis is characterized by multiple noncancerous (benign) tumors called schwannomas, a type of tumor that grows on nerves. Symptoms usually appear in early adulthood, and depending on the location of the tumors and which nerves are affected, may include pain, numbness, weakness, tingling, and headaches.
About Our Program
NewYork-Presbyterian’s Neurofibromatosis Clinics, operating at NewYork-Presbyterian/
Patients and their families can feel at ease knowing that all of their medical needs can be addressed in one location with the highest level of care and expertise, including transitional care into adulthood.
How We Diagnose Neurofibromatosis
If your child is suspected of having NF, a genetic counselor and research associate will meet with you and your child to obtain a comprehensive personal and family history. A physician from our team will perform a thorough neurologic and physical exam. We offer comprehensive genetic testing that may include specialized genetic panels, whole-exome sequencing, whole-genome sequencing, and parental testing. Blood draws can be performed on-site at the time of the visit and do not require an additional visit to a lab.
Our Approach to Care
Genetic Counseling and Evaluation
When you bring your child to us for care, you'll first meet with a genetic counselor with expertise in the care of individuals with NF. We'll take a thorough medical and family history and perform a physical examination. When necessary, we'll perform genetic testing.
A Personal Plan of Care
Based on the information we obtain from our evaluation, we'll develop a personalized plan of care for your child that includes the coordination of appointments with other specialists. Our neuro-oncologists have expertise in diagnosing and treating tumors of the brain and spinal cord. They see children with known or suspected NF1 in neurogenetics clinics and coordinate their care together with pediatric neurosurgeons, ophthalmologists, and endocrinologists. They also work closely with neurogeneticists and genetic counselors to arrange genetic testing and counseling as indicated.
Your child's treatment may include medications, pain management therapies, and/or surgery. By providing the services of specialists from a wide range of disciplines, we ensure that your child receives the individualized treatment needed to achieve the best outcomes.
Seamless, Coordinated Care
We understand it can be challenging to juggle appointments and manage all the different aspects of your child's care. To provide seamless, efficient care, our patient care coordinators manage all the specialty consultations and steps required to care for your child. Our coordinators help arrange any necessary appointments, explain treatments, and review the timeframe for your child's care. We also help coordinate the care provided by our team with your child's pediatrician.
Transitional Care to Adulthood
At NewYork-Presbyterian, we help teens and young adults with NF prepare to move from pediatric care to adult services. The decision at what age to transition varies from family to family but can begin during early adolescence. Typically pediatric patients have fully transitioned to adult care by age 22. This transition is important because policies and procedures vary from our pediatric and adult services. You should speak with your child’s neurologist about making the transition from pediatric to adult care. Your doctor can make recommendations based on your child’s maturity level and readiness to take on the responsibilities of care. When it is time, we help our patients seamlessly transition to one of our adult physicians in the NewYork-Presbyterian Neurology & Neurosurgery program, the #2 program in the country according to U.S. News & World Report.
How We Treat Neurofibromatosis
The care of patients with NF1 and NF2 is coordinated among multiple specialties. Your child's treatment may include medications, pain management therapies, or surgery. Our pediatric neurosurgeons specialize in the surgical removal of painful or disfiguring tumors. They work closely with a multidisciplinary team of specialists with exceptional expertise caring for patients with NF.
Why Choose Us
Nationally Ranked in Pediatric Neurology and Neurosurgery
U.S. News & World Report has ranked New York-Presbyterian among the top pediatric neurology and neurosurgery programs in the country, reflecting our reputation and excellent outcomes, the expertise of our pediatric neurology care teams, our high volume of cases, and other data related to patient care.
Expertise in Treating Neurofibromatosis
At NewYork-Presbyterian, pediatric neurosurgeons have expertise in diagnosing and treating neurofibromatosis and schwannomatosis in young patients, specializing in the surgical removal of painful or disfiguring tumors.
Unique Neurogenetics, Neurofibromatosis & Neuro-Oncology Program
At the Weill Cornell Medicine Neurogenetics, Neurofibromatosis & Neuro-Oncology Program, neurologists work closely with the Division of Medical Genetics to explore genetic diagnoses that may explain the origin of abnormal brain development disorders, including malformations of the brain, unexplained mental retardation, cerebral palsy, autism, neurodegenerative diseases, refractory epilepsy, and other familial neurological conditions. This information is important for predicting outcomes as children approach adulthood, searching for specific medical interventions, and critical in assessing familial risks for recurrence.
National Recognition by the Children’s Tumor Foundation NF Clinic Network
The Neurofibromatosis Clinics at NewYork-Presbyterian/Columbia University Medical Center and NewYork-Presbyterian/Weill Cornell Medical Center are affiliate clinics of the Children's Tumor Foundation NF Clinic Network (NFCN). As part of this network, the clinics provide education, support, counseling, and comprehensive clinical care for patients and families undergoing evaluation for NF1, NF2, or schwannomatosis as well as those diagnosed with these disorders. Our focus is to provide appropriate neurofibromatosis care by way of the most current guidelines for diagnosis and management.
Access to World-Class Pediatric Specialists
NewYork-Presbyterian has more top pediatric specialists than any other hospital in New York according to Castle Connolly. Your child's healthcare team has access to all of the various pediatric medical and surgical subspecialists who practice at NewYork-Presbyterian, ensuring that all of your child's medical needs can be addressed.
Seamless Access to Resources and Support Services
At New York-Presbyterian, patients and families have seamless access to our vast resources, including on-staff neuropsychologists who offer testing and treatments for emotional and cognitive issues that may occur after a brain or spine injury. We also have a Parent-to-Parent program that can connect you personally with a parent whose child has been treated for the condition your child has.