About Neurofibromatosis
Neurofibromatosis Type 1 (NF1) and Neurofibromatosis Type 2 (NF2) are hereditary disorders that are transmitted as autosomal dominant traits. Fifty percent of children born to an affected parent will inherit the condition, but new mutations are responsible for over 30 to 40% of diagnoses.
NF1 can be diagnosed in 1 of 3000 live births by the presence of at least 6 brown, flat, pigmented lesions called cafe au lait spots. Children are at risk for learning and behavioral disabilities such as ADHD, benign peripheral nerve tumors called plexiform neurofibromas and brain tumors that primarily affect the optic or visual pathways.
Older patients may develop numerous disfiguring benign skin tumors called neurofibromas.
NF2 has an incidence of 1 in 40,000 people but is not easily diagnosed at birth. Symptoms usually present in early adulthood with hearing impairment due to benign tumors growing around cranial nerves responsible for hearing and balance.
Most patients eventually become deaf either before or after surgical removal of the tumors. Hearing can be partially restored with new technological innovations simulating hearing and connected to either the brainstem or hearing nerve in the cochlea.
NF2 patients can also develop other benign brain and spinal cord tumors such as meningiomas and ependymomas.
At the new Neurofibromatosis Center NF1 pediatric and adult patients will be seen primarily at Hassenfeld Children’s Center. After an assessment of each patient’s individual needs by a family nurse practitioner, patients will be discussed at a multi-disciplinary team conference.
Specialty consultations will be sought from NYU Langone Medical Center experts in genetic counseling, neurology, behavior and learning disorders, orthopedics, dermatology and oncology.
The Hassenfeld Center already has essential services in place such as social workers, child life, data management, neuropsychology, neurology and oncology to help patients and their family members.
The NF2 patients will be screened by our family nurse practitioner in the Neurotology and Neurosurgical Suites on the 8th Floor of the Skirball building at NYU Lagone Medical Center.
New patients will be discussed at an NF2 multi-disciplinary conference. They will be evaluated by physicians with expertise in neurology, ophthalmology, genetic counseling, neurosurgery and otolaryngology and neurotology.
Hearing evaluations and counseling for implantable hearing devices such as cochlear and brainstem implants are also provided.
We have recently hired a pediatric oncologist, Matthias Karajannis, M. D., to help develop molecular based treatments with signal transduction inhibitors.
These new treatments will attempt to correct the defects that arise when specific molecular pathways are altered by a mutation in the NF2 gene.
Tumor banking is routine to provide specimens for this important research.
