eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Neurofibromatosis: Follow-up

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

Follow-up

Further Inpatient Care

  • Hospitalization may be required for major surgical procedures and for clinical evaluation of uncontrolled hypertension.

Further Outpatient Care

  • Many minor surgical procedures (eg, cutaneous neurofibroma removal) may be performed in an outpatient setting.
  • Although treatment of the patient with neurofibromatosis can be accomplished in the primary care setting, a number of additional medical concerns should be addressed on a routine basis. Some practitioners believe it best for patients to be seen on an annual basis in a comprehensive neurofibromatosis center; other practitioners believe they can provide the annual care themselves and refer to consultants for specific needs.
  • Patients younger than 5 years should receive biannual examinations, then annual examinations thereafter. Clinicians should devote special attention to complications of neurofibromatosis. Each biannual examination should include the following:
    • Blood pressure estimation
    • Head circumference measurement, at least during the first 3 years of life
    • Examination of the skin for typical lesions, including early or growing neurofibromas
    • Brief, age-appropriate visual acuity check
    • Examination of the eyes for evidence of proptosis or strabismus
    • Examination of the spine and extremities for abnormalities
    • Neurodevelopmental assessment and Tanner staging to exclude precocious puberty
  • Annual ophthalmologic examinations should look for optic nerve pallor, visual acuity changes, visual field defects, and Lisch nodules. Promptly refer young children to a pediatric ophthalmologist for concerns about visual acuity, evidence of proptosis, or palpebral plexiform neurofibromas obstructing vision.
  • Referral to an orthopedic surgeon may be necessary for deformities of the extremities, including significant hemihypertrophy, or for scoliosis. Orthopedic referral for scoliosis is particularly urgent for children younger than 10 years.
  • Referral to a pediatric neurologist may be necessary for concerns about neurologic symptomatology such as significant headaches, weakness or asymmetry, severe hypotonia, rapidly increasing head size, and possible seizures.
  • Referral to a developmental specialist may be indicated for a child with motor, speech, or cognitive delays.

Complications

  • Locally invasive plexiform neurofibromas
  • Dumbbell-shaped spinal cord neurofibromas or neurofibromas of the brachial or sacral plexus
  • Optic nerve gliomas, especially in children younger than 5 years
  • Less commonly, brainstem, cerebral or cerebellar gliomas
  • Scoliosis, which may be particularly aggressive in children younger than 10 years
  • Bony modeling defects that may lead to pseudarthrosis, thoracic cage asymmetry, or pathologic fractures
  • Hypertension due to pheochromocytoma or renal vascular stenosis secondary to fibromuscular dysplasia
  • Increased risk for brain tumors, leukemia, and other malignancies of neural crest origin, including neurofibrosarcomas
  • Peripheral nerve sheath tumors, which may undergo malignant transformation and are clinically challenging
  • Learning disabilities, attention deficit hyperactivity disorder (ADHD), or, rarely, mental retardation

Prognosis

  • Although most individuals with neurofibromatosis type 1 lead relatively long and healthy lives, neurofibromatosis type 1 may reduce overall life expectancy as much as 15 years. The major causes for this increased morbidity and subsequent mortality are hypertension and cancer.
  • Prompt attention to complications of neurofibromatosis type 1 and early detection of medical problems may significantly reduce overall morbidity and mortality.

Patient Education

  • Ensure children and their parents are aware of symptoms that require immediate medical attention; these include onset of strabismus, headaches that increase in intensity or frequency, signs of precocious puberty, and focal neurologic deficits.
  • The following organizations are among the resources for patients with neurofibromatosis and their families:
  • In addition to emotional support, these organizations provide the following services:
    • Periodic updates on advances in neurofibromatosis research
    • Contact information for regional support groups and local medical resources
    • Newsletters for patients and families

Miscellaneous

Medicolegal Pitfalls

  • Failure to identify scoliosis sufficiently early to institute nonsurgical approaches
  • Failure to identify optic gliomas sufficiently early to intervene before they cause permanent visual loss
  • Failure to identify and appropriately treat alternative causes of hypertension
  • Failure to provide appropriate genetic counseling31
 


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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