Neurofibromatosis resources for paediatricians

  • The information on this page was compiled by Dr Jeremy Freeman of the Department of Neurology, for paediatricians caring for children with neurofibromatosis. Paediatricians are welcome to refer patients with neurological concerns to the Department of Neurology. Questions regarding diagnosis and genetic counselling should be directed to the Victorian Clinical Genetics Service.

    • General information about Neurofibromatosis type 1 (NF1)
    • Online resources for general paediatricians caring for children with NF1
    • Frequently asked questions

    General information about NF1

    Neurofibromatosis type 1 (NF1) is a common condition in the community, affecting 1 in 3000 people. The autosomal dominant condition is due to mutation in the NF1 gene. The mutation is inherited from an affected parent in roughly half of affected children. Many children with NF1 have only cosmetic manifestations of the disorder, but learning difficulties are the most common neurological manifestation, affecting almost half of affected children. Life-threatening complications are rare in childhood but increase in adulthood, so successful transition to adult services is a critical aspect of care for the paediatrician. Regular clinical review for surveillance of complications, education of the child and the family, reassurance regarding fears that parents have concerning disfigurement and death, and advocacy with respect to educational opportunities are the main aspects of care.

    Online resources

    These are reputable sources of information for doctors and families.

    Genetic fact sheet

    This is a simple explanation of the clinical features and genetics of NF1 produced by the Centre for Genetics Education in Sydney, NSW. It is useful as a handout to families.

    Guidelines for diagnosis and management of NF1

    Ferner RE, Huson SM, Thomas N et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J. Med. Genet. 2007;44;81-88. This is a comprehensive guideline that represents the consensus of the United Kingdom Neurofibromatosis Association Clinical Advisory Board. It contains very useful tables including an annual visit assessment checklist.

    Neurofibromatosis Association of Australia

    This is the website of NF Australia, a charity with aims of supporting members, raising public awareness, providing information and promoting research. There is information on this site about NF1, but also NF2 and schwannomatosis, so be aware of potential for confusion between these different conditions.

    NF1 clinic outpatient note

    NF1 clinic outpatient note [PDF 62KB]

    This is the outpatient note format used by the former NF1 clinic at The RCH.

    Frequently asked questions

    These are some answers to questions that parents of children with NF1 have. Parents may not raise these questions directly, so it is worth touching on these points when seeing children with NF1.

    Will my child have disfigurement as a result of NF1?

    One in four people with NF1 have plexiform neurofibromas, and only 5% of these people have disfigurement as a result, so this problem affects around 1% of people with NF1. Furthermore, plexiform neurofibromas causing disfigurement are congenital lesions that are apparent by 5 years of age and usually by 3 years of age, so it is worth reassuring parents of this when appropriate to do so.

    Will my child become covered in lumps?

    Focal cutaneous neurofibromas (not plexiform neurofibromas) affect most people with NF1 but the number of these varies between individuals and within families. They tend to occur more on the trunk/torso rather than the limbs or face. If an individual lump causes local pain, catches on clothing or is of cosmetic concern, it can be removed. They do not become malignant.

    Can this lump become cancerous?

    Plexiform neurofibromas can develop into malignant peripheral nerve sheath tumours (MPNST) in 2-5% of people with NF1. This is extremely rare during early childhood, but becomes more of a concern in teenagers and adults.  The presenting symptoms of MPNST are: (1) unremitting pain not otherwise explained and disturbing sleep; (2) rapid increase in size of a pre-existing plexiform neurofibroma; (3) change in consistency of a plexiform neurofibroma from soft to hard; and (4) new or unexplained neurological deficit. Parents should be reassured about the low likelihood of this complication, but also told these warning signs.

    Should my child have an MRI scan of the brain?

    Routine MRI scanning for diagnosis of NF1 or surveillance for tumours is not recommended. Children with probable NF1 should be managed as if they do have NF1 with respect to surveillance, the most important aspect of which in early childhood is annual assessment of vision and fundoscopic examination by a paediatric ophthalmologist. Optic pathway gliomas can be seen in up 20% of children with NF1 if MRI is routinely performed, but the majority of children do not require treatment. Treatment is indicated when there is progressive vision impairment or tumour growth. MRI of the brain should be performed whenever there are symptoms or signs suggestive of an intracranial tumour or other neurological complication of NF1 such as stroke. It is not indicated for learning difficulty or ADHD associated with NF1.

    Is this headache a concern?

    Primary headache disorders including tension type headache and migraine occur in 10-20% of people with NF1. These primary headache disorders are, by definition, diagnoses of exclusion, which in children without NF1 can be made by history and physical examination alone. For a child with NF1, the clinician must decide whether the history and examination are sufficient to exclude a secondary cause of headache. In general, a stable pattern of episodic headache with typical symptoms of migraine or tension-type headache does not warrant brain imaging. Concerning symptoms include recent onset of headache in a child with no prior history of these, worsening of headache frequency or severity and symptoms suggestive of raised intracranial pressure. Neurological examination findings of concern should also prompt brain imaging. MRI is preferable to CT in children with NF1 considering the greater risk posed by radiation for children with NF1.