Table 1 NF clinical care recommendations assessed in the current study
Citation | |
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Neurofibromatosis 1 (NF1) recommendations | |
MRI is preferred over CT scanning to reduce ionizing radiation exposure in patients with NF1 | 4 |
Blood pressure should be recorded at least annually in patients with NF1 from early childhood through adulthood | 3, 5, 7 |
Patients with NF1 should be educated about malignant peripheral nerve sheath tumor (MPNST) signs and symptoms at initial and follow up visits | 3, 4, 5, 7 |
Development and progress at school should be recorded at each annual visit for pediatric patients with NF1 | 3, 5 |
For hypertensive patients with NF1 who are under 30 years of age, pregnant and/or have abdominal bruits, causes of renovascular hypertension should be evaluated | 4, 5 |
Height and weight should be recorded for patients with NF1 at every visit until one year old, then at least annually until adulthood | 3, 5, 7 |
Patients with NF1 under 8 years old should have annual testing of visual acuity and fundoscopy to assess for optic disc pallor and elevation | 5 |
Neurologic examination should be performed routinely for patients with NF1 from one month to one year of age, then annually until adulthood | 3, 5, 7 |
Pubertal development should be recorded for patients with NF1 at each annual visit from early childhood through puberty | 3, 5, 7 |
Evaluation of the skin of patients with NF1 should be recorded at each visit until 1 year old, and then at least annually thereafter | 3, 5, 7 |
From birth to 8 years old, patients should have ophthalmologic exams every 6–12 months including objective and quantitative visual acuity testing, visual fields, pupillary reflexes, and fundus exam | 7 |
Head circumference should be recorded for pediatric patients with NF1 at each visit until puberty | 3, 5 |
Patients with NF1 should be referred to orthopedics if there is concern about scoliosis | 4, 5 |
Patients with NF1 should be seen at least annually at an NF clinic | 3 |
Patients with NF1 should be followed at a specialized NF clinic | 4 |
All individuals with NF1 should have annual clinical evaluation of the back with Adam's forward bend test | 3, 4, 5 |
Adult patients with NF1 should be screened for depression | 4 |
Women with NF1 should have annual mammogram starting at age 30 years, and consideration of contrast-enhanced breast MRI between ages 30 and 50 years | 4, 7 |
Family planning should be revisited annually for patients of child bearing age who have NF1 | 4 |
Patients with NF1 should be supplemented with vitamin D to reach serum 25-hydroxyvitamin D concentrations in the sufficient range | 4 |
For hypertensive patients with NF1 who are under 30 years of age, pregnant and/or have abdominal bruits, concomitant screening for pheochromocytoma with plasma free metanephrines is recommended | 4 |
MRA is the preferred imaging modality for evaluation of renovascular hypertension. However, for patients with impaired renal function, spiral CT and CT angiography may be used | 4 |
Pregnant women with NF1 should be referred to a high-risk obstetrician | 4 |
Adults with NF1 should be asked about chronic fingertip and toe pain in the assessment of possible glomus tumors | 4 |
Because the risk of MPNST being associated with high internal tumor burden, whole-body MRI should be considered between ages of 16 and 20 years to assess this in patients with NF1 | 7 |
Preanesthesia neuraxial imaging to evaluate for spinal or paraspinal neurofibromas is probably not needed. If there are concerns, spinal anesthesia may be considered | 4 |
Neurofibromatosis 2 (NF2) Recommendations | |
Patients with NF2 should be followed at a specialized NF clinic | 6 |
Patients with NF2 should be seen at least annually at an NF clinic | 8 |
Ophthalmologic examination by a specialized ophthalmologist is recommended in children with NF2 | 8 |
Annual audiology with measurement of pure-tone thresholds and word recognition scores is recommended for patients with NF2 | 8 |
All children presenting with either clear diagnostic criteria for NF2, or those with an NF2 tumor (any schwannoma or meningioma) presenting in childhood should undergo genetic testing of NF2 | 8 |
Patients with NF2 should be informed that follow-up for life with interval scanning is necessary | 6 |
Annual brain MRI is recommended for patients with NF2, unless no tumors are seen on first scan in which case frequency may reduce to every 2 years | 8 |
Surveillance spinal MRI is recommended for patients with NF2 at 24- to 36-month intervals, unless there are no tumors in which case the frequency can be decreased | 8 |
Surveillance spinal MRI is recommended for patients with NF2 at 24- to 36-month intervals beginning at 10 years of age | 8 |
The interval between spinal surveillance MRI scans may be increased in patients with NF2 if there is no disease detected on baseline imaging | 8 |
Annual brain MRI is recommended for patients with NF2 starting at 10 years of age, unless no tumors are seen on first scan in which case frequency may reduce to every 2 years | 8 |
Schwannomatosis Recommendations | |
Test for pathogenic variants ('mutations') in SMARCB1 and LZTR1 genes should be performed in children and young adults with one or more non-intradermal schwannoma, including those with vestibular schwannoma negative for NF2 | 8 |
Baseline MRI of the brain should be obtained at diagnosis, then every 2–3 years, beginning at age 10 for SMARCB1-mutant patients and at age 15–19 for LZTR1-mutant patients with schwannomatosis | 8 |
Baseline MRI of the spine should be obtained at diagnosis, then every 2–3 years, beginning at age 10 for SMARCB1-mutant patients and at age 15–19 for LZTR1-mutant patients with schwannomatosis | 8 |