Skip directly to content

Pediatric Neurofibromatosis

Text Increase:
Text Increase Normal
Text Increase Large
Text Increase Largest

NEUROFIBROMATOSIS

Nf-1

  • Autosomal Dominant Mutation on Chromosome 17
  • 50% are spontaneous mutations
  • 50% chance a child will have NF-1 if 1 parent has it
  • Variable Penetrance
  • Life long vigilance
     

Clinical Protocol For Continuum of Care for Neurofibromatosis Patients

Clinical Protocol for NF Patients <18 years of age

  • Office Evaluation to: include growth, blood pressure, skin examination, bone examination (including spine), neurologic examination, vision screening, hearing screening, social/school follow-up,  sexual maturation.
  • All studies should be considered annual unless otherwise specified
  • All MRIs to be with and without contrast unless otherwise specified
  • Anticipatory guidance includes family support, support groups, and long-term planning
  • a = to be performed at beginning of age range and as needed thereafter

 

Clinical Protocol for NF Patients 18 years of age & older

  • Office Evaluation to include: growth, blood pressure, skin examination, bone examination (including spine), neurologic examination, vision screening, hearing screening, social/school follow-up,  sexual maturation.
  • All studies should be considered every 2 years unless otherwise specified
  • All MRIs to be with and without contrast unless otherwise specified
  • Anticipatory guidance includes family support, support groups, and long-term planning (including BP checks q3-4 months and annual ECG)
  • a = to be performed at beginning of age range only

 

New Patients

For first clinic visit, evaluation will include:

  • Height/weight
  • Blood pressure
  • Skin examination
  • Bone examination (including spine)
  • Neurological examination
  • Vision screening
  • Hearing screening
  • Sexual maturation/genetics counseling
  • Focused neuropsychology

Ordered studies will include:

  • Audiometry
  • Opthalmological evaluation
  • Head MRI (including orbits)
  • Entire spine MRI with and without contrast

Thereafter, treatment will be tailored to the patient, using the following protocol(s) based on patient age.

NEUROFIBROMATOSIS

Nf-2

  • Autosomal Dominant Mutation on Chromosome 22
  • Bilateral acoustic neuromas are classic, with a high chance of deafness
  • 50% chance a child will have NF-2 if 1 parent has it
  • Life long vigilance