Assessment of children with neurofibromatosis 1
| The following should be recorded at each annual visit |
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| *Asymptomatic children should also have one baseline assessment of colour vision and visual fields at the appropriate developmental age. |
| • Development and progress at school |
| • Visual symptoms, visual acuity and fundoscopy until age 7 years (optic pathway glioma*, glaucoma) |
| • Head circumference (rapid increase might indicate tumour or hydrocephalus) |
| • Height (abnormal pubertal development) |
| • Weight (abnormal pubertal development) |
| • Pubertal development (delayed/precocious puberty due to pituitary/hypothalamic lesion) |
| • Blood pressure (consider renal artery stenosis, phaeochromocytoma) |
| • Cardiovascular examination (congenital heart disease, especially pulmonary stenosis) |
| • Evaluation of spine (scoliosis ± underlying plexiform neurofibromas) |
| • Evaluation of the skin (cutaneous, subcutaneous and plexiform neurofibromas) |
| • System examination if specific symptoms |