Neurofibromatosis Type 1 Follow-up

Updated: Oct 27, 2017
  • Author: David T Hsieh, MD, FAAP; Chief Editor: Amy Kao, MD  more...
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Follow-up

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, renamed Children's Tumor Foundation, can be accessed via web at www.ctf.org or by phone at 1-800-323-7938. Neurofibromatosis, Inc is another support and resource group (www.nfnetwork.org; 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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