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Neurofibromatosis Type 1 Follow-up

  • Author: David T Hsieh, MD, FAAP; Chief Editor: Amy Kao, MD  more...
 
Updated: Jul 30, 2015
 

Further Outpatient Care

Although patients with neurofibromatosis type 1 (NF1) can be cared for in the primary care setting, additional medical concerns need to be addressed on a routine basis.

An outline of reasonable guidelines in caring for patients with NF1 is as follows:

  • Annual examinations should focus on potential complications of NF. Each examination should include blood pressure measurement, assessment of the skin for typical lesions (including early or growing neurofibromas), visual acuity check, evaluation of the eyes for evidence of proptosis or strabismus, and examination of the spine and extremities for any abnormalities. Neurologic evaluation should include a careful history for headaches or motor or sensory symptoms as well as a comprehensive motor and sensory examination.
  • Annual ophthalmologic examinations should check for optic nerve pallor, visual acuity changes, visual field defects, and Lisch nodules. Patients should be referred to an ophthalmologist promptly if the treating physician has any concerns about visual acuity, evidence of proptosis, or a palpebral plexiform neurofibroma obstructing vision.
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Further Inpatient Care

Hospitalization may be necessary for major surgical procedures and workup of uncontrolled hypertension.

Many minor surgical procedures (eg, removal of cutaneous neurofibromas) may be done in an outpatient surgical setting.

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Complications

Complications may include the following:

  • Locally invasive plexiform neurofibromas
  • Optic nerve gliomas, especially in children younger than 5 years
  • Dumbbell-shaped spinal cord neurofibromas or neurofibromas of the brachial or sacral plexus
  • Peripheral neuropathy
  • Scoliosis
  • Hypertension due to pheochromocytoma or renal vascular stenosis secondary to fibromuscular dysplasia
  • Bony modeling defects that may lead to pseudarthrosis, thoracic cage asymmetry, or pathologic fractures
  • Increased risk for brain tumors, leukemia, and other malignancies of neural crest origin (including neurofibrosarcomas and MPNSTs)
  • Learning disabilities, attention deficit disorder (ADD), attention deficit hyperactivity disorder (ADHD), or rarely, mental retardation
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Prognosis

Although most individuals with NF1 lead relatively long and healthy lives, the overall life expectancy may be reduced by on average 8 years. The major causes for this increased morbidity and subsequent mortality are hypertension, sequelae of spinal cord lesions, and malignancy.

Prompt attention to complications of NF1 and early detection of medical problems may significantly reduce the overall morbidity and mortality rates.

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Patient Education

Patients and their families may be referred to NF-specific national and regional support groups for continuous updates on treatment advances and for emotional support. The previous National NF Foundation, Inc, now renamed The Children's Tumor Foundation, has a toll-free telephone number (1-800-323-7938). Parents and families can sign up to receive a newsletter. Neurofibromatosis, Inc is another support and resource group with a toll-free telephone number (1-800-942-6825).

Inform patients of symptoms that would require immediate medical attention, including headaches increasing in intensity or frequency or focal neurological deficits.

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Contributor Information and Disclosures
Author

David T Hsieh, MD, FAAP Assistant Professor of Pediatrics, Assistant Professor of Neurology, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Adjunct Assistant Professor of Pediatrics, Adjunct Assistant Professor of Neurology, University of Texas Health Science Center at San Antonio School of Medicine

David T Hsieh, MD, FAAP is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, Child Neurology Society

Disclosure: Nothing to disclose.

Coauthor(s)

Luis O Rohena, MD Chief, Medical Genetics, San Antonio Military Medical Center; Assistant Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Assistant Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Kenneth J Mack, MD, PhD Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, Society for Neuroscience

Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD Attending Neurologist, Children's National Medical Center

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, Child Neurology Society

Disclosure: Have stock from Cellectar Biosciences; have stock from Varian medical systems; have stock from Express Scripts.

Additional Contributors

Ann M Neumeyer, MD Medical Director, Lurie Center for Autism; Assistant Professor of Neurology, Harvard Medical School; Child Neurologist, Massachusetts General Hospital

Ann M Neumeyer, MD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Massachusetts Medical Society

Disclosure: Nothing to disclose.

Acknowledgements

The view(s) expressed herein are those of the author(s) and do not reflect the official policy or position of Brooke Army Medical Center, the U.S. Army Medical Department, the U.S. Army Office of the Surgeon General, the Department of the Army, the Department of the Air Force, Department of Defense or the U.S. Government.

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.

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Café-au-lait spots in a 4-year-old boy.
Axillary freckles.
Inguinal freckles.
Multiple neurofibromas in a 28-year-old man.
Plexiform neurofibroma of the right thigh.
Lisch nodules.
Radial and ulnar bowing and obliteration of the intramedullary spaces.
Unidentified bright object (UBO) within the brain parenchyma.
Left optic nerve glioma with thickening of the nerve and proptosis.
Below-the-knee amputation for tibial pseudarthrosis.
The young woman pictured here has a plexiform neurofibroma of the eyelid.
 
 
 
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