Table 3 Assessment of children with neurofibromatosis 1.
The following should be recorded at each annual visit |
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• 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 |
*Asymptomatic children should also have one baseline assessment of colour vision and visual fields at the appropriate developmental age.