In this section
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.
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.
These are reputable sources
of information for doctors and families.
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.
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
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.
This is the outpatient note
format used by the former NF1 clinic at The RCH.
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.
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.
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.
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.
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
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.