pediatrics
Neurofibromatosis
Diagnosis of Neurofibromatosis
Clinical evaluation Brain MRI or head CT Sometimes genetic testing Most patients with NF1 are identified during routine examination, examination for cosmetic complaints, or evaluation of a positive family history. Diagnosis of all 3 types is clinical (see table) by detailed physical examination that is focused on the cutaneous, skeletal, and neurologic systems. NF1 should be suspected and monitored for in children who have multiple café-au-lait spots even if they do not have other features or family history of NF1. Brain MRI is done in patients with neurologic symptoms or signs and, when detailed visual testing is not possible, in young children who meet the clinical criteria for NF1 and who may have an optic glioma. T2-weighted MRI may show thickening or tortuosity of the optic nerves and parenchymal hyperintense lesions that change over time and correlate with small cystic structures in NF1; MRI may help identify vestibular schwannomas or meningiomas in NF2. If vestibular schwannoma is suspected, CT of the petrous ridge can be done; it typically shows widening of the auditory canal. Although the diagnosis can usually be established by clinical criteria, genetic testing is recommended for patients who are suspected to have neurofibromatosis but who do not fulfill clinical criteria. 