eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Neurofibromatosis: Treatment & Medication

Author: Beth A Pletcher, MD, Associate Professor, Co-Director of The Neurofibromatosis Center of New Jersey, Department of Pediatrics, University of Medicine and Dentistry of New Jersey
Contributor Information and Disclosures

Updated: Nov 11, 2009

Treatment

Medical Care

  • Medical care consists of routine examinations, focusing on some of the possible complications of neurofibromatosis type 1 (NF1).
  • Biannual examinations for children younger than 5 years, and annual examinations thereafter, provide the best early detection of problems, which can decrease morbidity and improve the patient's quality of life.
  • Annual eye examinations, especially in children younger than 5 years, are essential for early detection of optic nerve lesions. However, because symptomatic optic nerve gliomas may also appear in older children and young adults, annual examinations should be part of ongoing care for all individuals with neurofibromatosis type 1.
  • Optic nerve gliomas in children with neurofibromatosis type 1 are typically more indolent than in the general population. Asymptomatic lesions may simply be clinically monitored, whereas for symptomatic lesions (especially in younger children), chemotherapy is generally recommended over radiation therapy.20 For progressive optic nerve lesions in children older than 5 years, radiation therapy may be considered; surgical intervention is only indicated for large lesions that cause hydrocephalus or unilateral lesions that result in proptosis with complete visual loss.21
  • Brainstem gliomas (not to be confused with unidentified bright objects typically seen on T2-weighted MRI), much like the optic nerve lesions in neurofibromatosis type 1, are generally quite indolent. However, focal enhancement of brainstem gliomas may be a harbinger of likely progression; treatment options with progression need to be carefully considered. For nonresectable, progressive brainstem gliomas, combination chemotherapy with carboplatin and vincristine may be the preferable first-line therapy over radiation because of the risks for secondary vasculopathy associated with radiation.22
  • Recurrent low-grade gliomas along the optic nerve tracts, within the brainstem, or elsewhere in the CNS have been shown, in a limited study, to respond clinically to a combination of bevacizumab (a monoclonal antibody that inhibits vascular endothelial growth) and irinotecan.23 Such combination therapy may hold promise for children who have failed other chemotherapy regimens.
  • Perform a cutaneous examination to search for new neurofibromas and progression of preexisting lesions.
  • Plexiform neurofibromas may be locally invasive; direct clinical evaluation at determining the extent of involvement and detecting evidence of bony erosion or nerve entrapment.
  • In older children and adolescents, malignancies can occasionally arise within a plexiform neurofibroma or peripheral nerve sheath lesion. Although complete resection of the tumor provides the best chance for cure of a malignant neurosarcoma or malignant peripheral nerve sheath tumor (MPNST), adjuvant chemotherapy is sometimes necessary for unresectable or metastatic lesions. Use of chemotherapy to treat MPNSTs is still in its infancy, and, until recently, very poor outcomes were generally reported despite the use of various combinations of agents.
  • More recently, in vitro studies examining a broader range of agents targeting the ras pathway and/or other relevant neurofibromatosis pathways have shown great promise. Specifically, farnesyl transferases used in combination with lovastatin have shown synergistic effects in growth inhibition of MPNST cell lines in vitro.24 A study examining sorafenib reported inhibition of MPNST cell growth in vitro.25 Another study demonstrated that a rapamycin complex 1 inhibitor (RAD001) inhibits MPNST cell growth when used as a single agent and, when used in combination with erlotinib (an epidermal growth factor receptor tyrosine kinase inhibitor), shows even greater growth inhibition and apoptosis.26 These initial studies will likely lead to preclinical and clinical trials for patients with unresectable MPNSTs in the very near future.
  • The examination should include a careful search for skeletal involvement, including scoliosis, hemihypertrophy, and long-bone modeling defects.
  • Check blood pressure at every visit and take prompt action if hypertension is detected.
  • Ask parents about the child's neurodevelopmental progress, which allows any learning disabilities to be addressed in a timely manner. For children and adolescents with attention deficit hyperactivity disorder (ADHD), psychostimulant medication may improve academic performance and social skills.
  • Studies using an neurofibromatosis type 1 mouse model to investigate neurofibromin's effect on neurotransmitters have shown an increase in the release of GABA in the hippocampus of affected mice.27 This effect on neurotransmitter release in key parts of the brain may, in fact, explain some of the learning disabilities in children and adults with neurofibromatosis type 1. This early research could, in the near future, lead to clinical trials using GABA antagonists as a novel strategy to address learning difficulties in this patient population.
  • Individuals and families may benefit from involvement in a local or national support group or organization committed to the service of patients with neurofibromatosis (see Patient Education).

Surgical Care

  • Neurofibromas
    • Any competent surgeon can accomplish surgical resection, although consultation with a plastic surgeon is advisable for areas of greater cosmetic concern (eg, the face).
    • Neurofibromas that press on vital structures, obstruct vision, or grow rapidly deserve immediate attention.
    • Plexiform neurofibromas may be extremely difficult to approach surgically. Plexiform neurofibromas often recur after resection because of residual cell rests deep in soft tissues.
    • Surgeons must recognize that removal of some of these lesions can cause substantial blood loss, and they should plan accordingly.
    • For many patients, neurofibromas on the scalp, along the hairline, or around the waist (where clothes rub) can cause significant irritation and discomfort. Removal of these lesions should be considered a necessary medical procedure, not a cosmetic procedure.
    • Peripheral nerve sheath tumors may occur in the brachial or pelvic plexuses; most are benign, although they may cause significant neurologic symptoms.
  • Spinal cord tumors
    • Resection of spinal cord tumors is quite difficult but is often necessary to prevent progressive paraplegia or quadriplegia. Prompt action is important when neurologic symptoms appear to maximize operative success.
    • For some patients, surgical intervention may not guarantee a complete resection of the tumor but may serve a palliative function.
    • More recently, single fraction radiosurgery has been used in a few centers to treat benign intradural extramedullary spinal cord tumors. This technique may be used as a primary therapeutic approach or for patients with residual tumor or postsurgical tumor progression.28
  • Orthopedic intervention
    • Orthopedic treatment is indicated for rapidly progressive scoliosis and for some severe bony defects.
    • Referral as soon as scoliosis is detected is advisable; this allows the orthopedic specialist to possibly use nonsurgical approaches to avoid future spinal fusion procedures.
    • Limb-sparing procedures, along with new bracing and casting technologies, have decreased the need for amputation. The best treatment for patients with long-bone defects involves ongoing orthopedic care.
  • Vascular lesions
    • Percutaneous transluminal renal artery angioplasty (PTRAA) may be effective in treating some cases of stenosis secondary to fibromuscular dysplasia.
    • Patients who fail PTRAA or are not candidates for this procedure based on their specific vascular lesion may require surgical repair and anastomosis of the renal artery.
  • Pheochromocytomas
    • Resection is the treatment of choice for a pheochromocytoma
    • When resecting a pheochromocytoma, patients require preoperative prophylactic treatment with an alpha-blocker (preferably a selective post-synaptic alpha-1 receptor antagonist) to offset the effects of catecholamine release during surgical manipulation of the tumor.29

Consultations

  • An ophthalmologist is a valuable member of the neurofibromatosis consultation team, evaluating patients on an annual basis for visual acuity changes, for field defects, and for Lisch nodules.
  • A neurologist serves as a core consultant, performing a complete focused neurological examination to provide valuable information about neurologic changes.
  • A neurosurgeon provides expert consultation when a spinal cord tumor or brain tumor is identified. The neurosurgeon works closely with the neurologist to determine the optimal timing for surgery and the ideal surgical approach.
  • A geneticist provides information about diagnosis, diagnostic testing, inheritance, and recurrence risk in future children. A geneticist may also address family planning options and prenatal diagnosis.
  • An orthopedic surgeon is a key consultant for the many bone abnormalities that occur in neurofibromatosis (eg, scoliosis, pseudarthrosis, hemihypertrophy, bony erosion by plexiform neurofibromas).
  • A developmental pediatrician may be an invaluable resource for evaluating a child with learning disabilities. Speech delay and hypotonia are among the most common signs of developmental delay in neurofibromatosis. Early intervention with appropriate services may help maximize a child's potential. A developmental specialist can determine which services are needed and may recommend early intervention programs.
  • The patient may benefit from consultation with several other specialists to address specific neurofibromatosis concerns, including the following:
    • A nephrologist to exclude renal vascular lesions
    • A general or plastic surgeon to remove neurofibromas
    • An oncologist for management and treatment of optic nerve gliomas, other intracranial gliomas, neurosarcomas, or MPNSTs
    • An otolaryngologist for suspected hearing loss or acoustic nerve lesions
    • A dermatologist for cutaneous lesions
    • An oculoplastic surgeon for orbital plexiform neurofibromas
  • A psychologist may provide ongoing support for both the child and family as they learn to cope with the prospects of dealing with a chronic medical condition. A study on the quality of life (QoL) for children with neurofibromatosis type 1 suggests that orthopedic complications, learning disabilities, and plexiform neurofibromas are most likely to negatively impact the child's and parents' assessment of QoL.30

Activity

  • Neurofibromatosis type 1 requires no general activity restrictions with the exception of individuals with specific orthopedic concerns whose consulting physicians may recommend activity restrictions.
  • Patients with spinal fusion procedures and individuals with significant long-bone weakness or pseudarthrosis may need to limit specific athletic activities.

Medication

Neurofibromatosis type 1 (NF1) has no known medical therapy. Researchers have initiated several drug trials in search of medications that slow or halt the growth of neurofibromas. A recent trial used a retinoic acid derivative in an attempt to slow the growth of plexiform neurofibromas. To date, none of these medications has demonstrated significant benefit.

For a small subset of patients with pruritus caused by cutaneous neurofibromas, diphenhydramine administration may provide limited temporary relief. Encourage patients with this condition to avoid hot showers and baths because heat may exacerbate itching.

Chemotherapy trials with carboplatin have proven efficacy in controlling the growth of visually significant optic gliomas.

More on Neurofibromatosis

Overview: Neurofibromatosis
Differential Diagnoses & Workup: Neurofibromatosis
Treatment & Medication: Neurofibromatosis
Follow-up: Neurofibromatosis
Multimedia: Neurofibromatosis
References
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Further Reading

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Keywords

neurofibromatosis, NF, classic neurofibromatosis, neurofibromatosis type 1, NF1, neurofibromatosis type 2, NF2, von Recklinghausen disease, hamartomas, optic nerve gliomas, spinal cord tumors, scoliosis, long-bone abnormalities, treatment, diagnosis

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Contributor Information and Disclosures

Author

Beth A Pletcher, MD, Associate Professor, Co-Director of The Neurofibromatosis Center of New Jersey, Department of Pediatrics, University of Medicine and Dentistry of New Jersey
Beth A Pletcher, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics
Disclosure: Nothing to disclose.

Medical Editor

Ian Krantz, MD, Department of Pediatrics, Assistant Professor, University of Pennsylvania and Children's Hospital of Philadelphia
Ian Krantz, MD is a member of the following medical societies: American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Leonard G Feld, MD, PhD, MMM, FAAP, Sara H Bissell and Howard C Bissell Endowed Chair in Pediatrics, Chief Medical Officer, Levine Children's Hospital, Carolinas Medical Center
Leonard G Feld, MD, PhD, MMM, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Physician Executives, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, and Juvenile Diabetes Foundation International
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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