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Neurofibromatosis

Providing comprehensive medical and surgical care to children, adolescents and adults with neurofibromatosis


Neurofibromatosis (NF), one of the most common genetic disorders, is characterized by the formation of tumors involving nerve tissue in the skin, subcutaneous tissue, cranial nerves, and spinal root nerves. Other abnormalities can develop in the skin and bones. The symptoms of NF can be varied and evolve over time. Because of the progressive nature of these conditions, the Duke Comprehensive Neurofibromatosis Clinic, under the direction of Dr. Sri Gururangan, provides ongoing, specialized multidisciplinary care that is customized according to each patient’s medical, laboratory, and surgical needs.

Specialists in oncology, neurology, medical genetics, neurosurgery, ophthalmology, otolaryngology, and learning disabilities, work together to address the multiple complications and complex management challenges that can accompany this condition. Our experienced professionals use state-of-the-art equipment and are at the forefront in research and testing of promising new therapies. The Duke Comprehensive Neurofibromatosis Clinic offers diagnosis, treatment and support for patients with neurofibromatosis and their families.

What is neurofibromatosis?

Neurofibromatosis (NF) represents a genetic disorder of the nervous system, primarily affecting the development and growth of neural cell tissues. As a result of this disorder, tumors can grow on nerves. Such tumors result in skin changes and bone deformities. The term "neurofibromatosis" relates to three distinct conditions:

  • Type 1 (NF1), also known as von Recklinghausen disease.  NF1 is the most common type, occurring in one of every 3,500 births. It affects an estimated 100,000 people in the United States. It is long lasting (chronic) and mostly affects nerves of the outer parts of the body (peripheral nervous system). Hallmark features include café au lait spots, neurofibromas, Lisch nodules, sphenoid hypoplasia, and optic gliomas. [Learn more]
  • Type 2 (NF2), also known as bilateral acoustic neurofibromatosis. NF2 is rarer, appearing in one in 30,000 to 40,000 births. People with NF2 usually develop tumors on the nerves in their ears, causing hearing loss, eventual deafness and problems with balance. NF2 may also involve tumors along the spinal cord. [Learn more]
  • Schwannomatosis is a recently recognized type of neurofibromatosis that occurs infrequently. It is characterized by benign tumors (schwannomas) that can cause intense pain. Recent discoveries have profided insight into the genetic cause of this disorder, and it is hoped that this will lead to a better understanding of the disease. [Learn more]

Treatment

NF1. Because symptoms and rate of development vary greatly with NF1, treatment must be highly individualized. At Duke, an experienced team takes a multidisciplinary approach to the care of each patient. Neurofibromatosis is usually diagnosed based on several conditions, including evidence of at least two of the following:

  • café-au-lait spots
  • two or more neurofibromas
  • Lisch nodules on the irises
  • optic glioma
  • skeletal abnormalities
  • family history of NF1
  • freckling under the arms or in the groin

Treatment for NF1 includes removal of the neurofibromas for cosmetic purposes, treating the complications (seizures, high blood pressure, scoliosis, speech impairment, vision problems, and early or delayed onset of puberty), and intervening when needed for patients with learning disabilities.

Although neurofibromas rarely (3%-5% of cases) become cancerous, treatment with surgery, chemotherapy, or radiation is utilized when necessary.

NF2. The symptoms of NF2, including ringing in the ears (tinnitus), hearing loss, and difficulty with balance, typically develop in young adults. This disorder may be diagnosed earlier in children with a family history of the disease, or it may not appear until middle age in someone with a milder form of the disorder. Magnetic resonance imaging (MRI) in conjunction with audiometry (hearing tests) are the preferred diagnostic tests for identifying NF2.

Treatment options include observation, surgical removal of auditory nerve tumors and radiotherapy. It is important that children who have a family history of NF2 be monitored at an early age to detect tumors while hearing-preservation surgery is still an option.

Schwannomatosis. Treatment of schwannomas is determined based on symptoms. Since schwannomas are almost always benign, the majority do not require treatment. However, surgical intervention or pain management may be required for symptomatic schwannomas.

 


Physicians and Staff

Physicians

Name Areas of Special Interest
Sridharan Gururangan, MRCP (UK) Developing innovative phase 1 and 2 trials in the treatment of children with recurrent brain tumors

Director,
Neurofibromatosis Clinic
Hematology-Oncology Specialist

Evaluation and treatment of patients with neurofibromatosis, especially those with brain tumors. Director of Pediatric Clinical Services at the Preston Tisch Brain Tumor Center; more than 20 years experience treating patients with neurofibromatosis
David Van Mater, MD, PhD
Co-Director, Neurofibromatosis Clinic 
Hematology-Oncology Specialist
 
Treatment and management of hereditary cancer syndromes; general care and referrals for children and adults with neurofibromatosis

Kristin Schroeder, MD, MPH
Co-Director, Neurofibromatosis Clinic 
Hematology-Oncology Specialist
 

Treatment of central and peripheral nervous system tumors in children and adults with neurofibromatosis

Medical Genetics

Marie T. McDonald, MD, MB BCh
Evaluation and treatment of genetic disorders associated with neurofibromatosis

Neurology

William B. Gallentine, DO

Evaluation and treatment of epilepsy associated with neurofibromatosis
Sujay Kansagra, MD

Evaluation and treatment of neurofibromatosis patients with sleep disorders
Mohamad A. Mikati, MD Evaluation and treatment of neurofibromatosis patients with epilepsy or suspected seizures

Neuropsychology

Melanie J. Bonner, PhD

Comprehensive cognitive and psychosocial evaluations and monitoring of children with NF-1 to facilitate recommended academic, social, and emotional intervention

Neurosurgery

Herbert E. Fuchs, MD, PhD

Surgical treatment for brain tumors associated with neurofibromatosis

Carrie R. Muh, MD, MS

Surgical treatment for brain and spinal tumors associated with neurofibromatosis

Eric Thompson, MD

Brain tumors, spinal cord tumors, skull and spine tumors, epilepsy, hydrocephalus, vascular disease (such as AVMs and moyamoya disease), myelomeningocele, tethered cord syndrome, and craniosynostosis

Hematology-Oncology

Richard F. Riedel, MD

Evaluation and treatment for adult patients with NF-1 associated bone and soft tissue sarcomas

Corinne M. Linardic, MD, PhD

Evaluation and treatment of children and adolescents with NF-related tumors requiring chemotherapy

Neuro-Opthalmology

M. Tariq Bhatti

Evaluation of eye disorders associated with neurofibromatosis, particularly anterior visual pathway or optic nerve gliomas

Mays El-Dairi, MD

Medical and surgical management of optic neuropathies, double vision, nystagmus, and other neuro-opthalmic conditions in children and adults; diagnosis and management of optic nerve damage in children with compressive or inflammatory brain lesions including optic pathway gliomas

Orthopaedics

Benjamin A. Alman, MD

Comprehensive management of orthopaedic problems related to neurofibromatosis, including spinal deformities, delayed or absent bone healing, bone deformities, and tumors of the bones and soft tissues

Robert D. Fitch, MD

Evaluation and treatment of the orthopaedic manifestations of neurofibromatosis, including spinal deformity and congenital pseudoarthrosis of the tibia

Otolaryngology - Head & Neck Surgery

David M. Kaylie, MD, MS

Evaluation and treatment of hearing and acoustic neuromas associated with NF2 using hearing aids, cochlear implants or brainstem implants; management of acoustic neuroma therapies using surgery, radiation, or extensive observation

Debara L. Tucci, MD, MBA, MS

Evaluation and management of pediatric patients with all types of ear disease and hearing/balance disorders; middle-ear disease, including tympanic membrane perforations, cholesteatoma, conductive hearing loss; evaluation of sensorineural hearing loss and treatment with hearing aids, cochlear implants

Plastic Surgery

Alexander Allori, MD, MPH

Surgical treatment of large or symptomatic neurofibromas, particularly those on the face that affect the eyes, nose, and lips


Clinic Hours & Locations

Duke Children's Hospital & Health Center
2301 Erwin Road
Durham, NC 27710
Tel: 919-668-4000

Hours: Daily, 8:30 am - 5:00 pm


Appointments and Contact Information

The Duke Neurofibromatosis Clinic is dedicated to providing comprehensive medical and surgical care to children, adolescents and adults with neurofibromatosis. Patients will receive diagnostic evaluations, routine follow-up assessments and coordinated, multidisciplinary care.

Director: Sri Gururangan, MRCP (UK)

Co-Directors: David Van Mater, MD, PhD and Kristin Schroeder, MD, MPH     

Clinic Coordinator: April Short

  • For new and return appointments, please call 919-668-6288 and press 2 to connect to the NF Clinic voicemail.
  • For physicians requesting consultations or making referrals, please call the Duke Consultation and Referral Center at 800-MED-DUKE (800-633-3853).