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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 Neurofibromatosis Clinic, under the direction of Mohamad Mikati, MD, provides ongoing, specialized multidisciplinary care that is customized according to each patient’s medical, laboratory, and surgical needs.

Specialists in neurology, neuro-oncology, medical genetics, neurosurgery, ophthalmology, neuro-otology, plastic surgery, cardiology, learning disabilities, and rehabilitative services 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 multidisciplinary Duke Neurofibromatosis Clinic offers comprehensive 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 neurofibromatosis consist of three clinical types:

  • Type 1 (NF1), also known as von Recklinghausen disease.  NF1 is the most common type, occurring in one of every 4,000 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 rarely. Researchers do not fully understand what causes the tumors and the intense pain that are characteristics of the disorder. 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 aesthetic purposes, treating the complications (seizures, high blood pressure, scoliosis, speech impairment, vision problems, and early or delayed onset of puberty), and getting intervention for patients with learning disabilities.

Although neurofibromas rarely (3%-5% of cases) become cancerous, in these occurrences, surgery, chemotherapy, or radiation may be 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.

Genetic testing is now available for people with a family history of either NF1 or NF2, though such testing is still not 100% accurate. Amniocentesis or chorionic villus sampling can sometimes determine if an unborn child has the condition.

 

Research. Members of Duke’s neurofibromatosis clinical team also engage in collaborative work with investigators in clinical research and the basic sciences in an effort to enhance and expand current treatment optons. Areas of research emphasis include identifying biochemical markers and therapeutic targets and participating in therapeutic trials examining agents that target cell signaling pathways. In addition, a collaborative initiative with the Neuroproteomics Laboratory has been established to utilize state-of-the-art biochemical technology to search for potential biomarkers of severe or progressive disease in NF-1.


Physicians and Staff

Physicians

Name Areas of Special Interest
M. Tariq Bhatti, MD Optic neuritis and multiple sclerosis, mitochondrial eye diseases, giant-cell arteritis, orbital syndromes, ophthalmic complications of endoscopic sinus surgery
Melanie J. Bonner, PhD Pediatric psychology; patients and families coping with chronic illness; psychological assessment of children and adolescents with medical, developmental, learning, and/or behavioral problems
Robert D. Fitch, MD Pediatric spine; adult, pediatric and adolescent scoliosis; hip, clubfoot, trauma; Ilizarov method for limb lengthening; deformity correction; speciality clinics for conditions including scoliosis, myelodysplasia, cerebral palsy, and (pediatric) amputations
Herbert E. Fuchs, MD, PhD Brain tumors, hydrocephalus, Chiari malformations, spina bifida, craniofacial surgery, spasticity, rhizotomy surgery and baclofen pumps, ventriculoscopic surgery
William B. Gallentine, DO Epilepsy, epilepsy surgery, neurometabolic and neurodegenerative disorders
Sridharan Gururangan, MRCP (UK) Developing innovative phase 1 and 2 trials in the treatment of children with recurrent brain tumors
Ronald J. Kanter, MD Infants, children, teenagers, and young adults with syncope, cardiac arrhythmias, sudden death, autonomic dysfunction, or congenital heart disease; placement of cardiac pacemakers and implantable defibrillators; performance of tilt-table studies, autonomic studies, and electrophysiologic studies, radiofrequency ablation of cardiac arrhythmias
David M. Kaylie, MD, MS Surgery of skull-base tumors, including acoustic neuroma (vestibular schwannoma), meningioma, glomus tumor and cancers; stereotactic radiation for skull-base tumors using BrainLab linear accelerator system (Linac) and gamma knife; surgical and medical management of chronic ear diseases such as ear infection, eardrum perforation, and cholesteatoma; management of temporal bone trauma; facial-nerve paralysis from Bell's palsy, Ramsay Hunt syndrome, and facial-nerve tumors, including facial-nerve schwannoma and hemangiomas; surgical and medical management of hearing loss in pediatric and adult patients for conductive and sensorineural hearing loss, including cochlear implantation, otosclerosis, Baha implants, and hearing aids; surgical and medical management of conditions that cause dizziness, including Meniere's disease, chronic dysequilibrium, vertigo, migraine-associated vertigo, positional vertigo
Corinne M. Linardic, MD, PhD Pediatric hematology-oncology with emphasis on caring for children, adolescents, young adults with sarcomas
Jeffrey R. Marcus, MD Craniofacial surgery for children and adults including cleft lip/palate and craniosynostosis; rhinoplasty for cosmetic and/or breathing issues; microsurgical facial reanimation for facial paralysis; microsurgical repair of brachial plexus injuries in infants; broad scope of pediatric plastic surgery including skin conditions, congenital hand surgery, ear reconstruction; assistance to families of internationally adopted children with cleft lip and palate
Charles M. Maxfield, MD Pediatric radiology
Marie T. McDonald, MD, MB BCh Clinical genetics, dysmorphology, birth defects, metabolic disorders, cancer genetics, Fabry disease, lysosomal-storage disorders
Mohamad A. Mikati, MD Intractable epilepsy and epileptic encephalopathies, presurgical evaluation for epilepsy surgery, development and testing of new antiepileptic drugs, application of new MRI techniques in epilepsy, general pediatric neurology
Carrie R. Muh, MD, MS Evaluation and treatment of neurosurgical disorders of childhood, including pediatric brain and spine tumors; posterior-fossa tumors; genetic tumor syndromes; Chiari malformations; craniosynostosis and craniofacial surgery; tethered cord syndrome and spina bifida; hydrocephalus; spasticity; vagal nerve stimulators for epilepsy
Richard F. Riedel, MD Treatment and management of patients with soft-tissue and bone sarcomas
Edward C. Smith, MD General child neurology with special interest in neuromuscular disorders, brachial plexus injuries, cerebral palsy
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
Gordon Worley, MD Evaluation and treatment of children with cerebral palsy, spina bifida, Down syndrome
Terri L. Young, MD Ophthalmic genetics, pediatric eye disease including pediatric cataracts, surgical correction of strabismus in children and adults

 

B. Capps, RN, BSN
J. Farlow, RN
J. Harrell, LPN

Nurses and Staff

NameRole
Brandi Capps, RN, BSN Neurology Nurse
Janna Farlow, RN Neurology Nurse
Jerri Harrell, LPN Clinic Coordinator
Sheila Rittgers, MSW Social Work


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

Duke Eye Center
2351 Erwin Road
Durham, NC 27710
Tel: 919-681-3937
Hours: Daily, 8:00 am - 5:00 pm 


Duke University Hospital
2301 Erwin Road
Durham, NC 27710
Tel: 919-684-8111
Hours: Daily, 7:00am - 9:00pm

Lenox Baker Children's Hospital
3000 Erwin Road
Durham, NC 27705
Tel: 919-684-6669

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


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: Mohamad Mikati, MD

Clinic Coordinator: Jerri Harrell, LPN

  • For new and return appointments, please call 919-668-6751.
  • For prescription refills, please call 919-668-6751.
  • For urgent calls during business hours, call the divisional office at 919-668-6751.
  • For urgent calls on evenings/weekends, holidays, please call the Pediatric neurology resident on call 919-684-8111.
  • For physicians requesting consultations or making referrals, please call the Duke Consultation and Referral Center at 800-MED-DUKE (800-633-3853).