What is Neurofibromatosis?
Neurofibromatosis (NF) is a neurocutaneous disorder – involving the skin, brain, and several other organ systems. It is the most common single-gene disorder in human beings. It affects 1 in every 2,500 to 3,000 people born worldwide.
What causes Neurofibromatosis?
The cause of NF is a change in a gene that produces a protein called Neurofibromin. This protein has several functions in the body, which include:
How do you get Neurofibromatosis?
NF does not just involve the nerves and skin. Other systems are involved too:
How is it diagnosed?
Before birth: Antenatal diagnosis is very rare. Ultrasound signs are non-specific; certain tumors associated with NF may be picked up.
After birth: There are no specific tests – the diagnosis is made after a clinical exam. To confirm the diagnosis, your doctor may advise a blood test to look for changes in the NF gene.
Neurofibromas – These are the most striking feature of NF. Neurofibromas are of three types:
Frequently Asked Questions:
Q: My child has NF? So, what next?
A: Most children have mild-moderate symptoms, some are severe. It is difficult to predict the progression of symptoms, each child is different. Regular doctor visits are recommended.
Q: My child was born with 2 café au lait patches. Should I worry?
A: One or two café au lait patches occur in 10% of the general population. Café au lait spots may be part of several other conditions. However, in the absence of any other symptoms or signs, chances are these are benign in nature and do not need a follow-up with your doctor.
Significance of 3-5 café au lait patches: Children with 3–5 café au lait patches but no other signs of NF should be followed up in a Specialist Neurofibromatosis clinic as they might have mosaic NF1 or NF2.
Q: What is the life expectancy of children with NF?
A: Life expectancy is normal, in the absence of complications such as tumors. Generally, children with NF have an IQ in the low average range. In addition, a learning disorder or behavioural concerns may be a concern. Guidance and intervention regarding schooling, activities that can maximize your child’s potential is important.
Q: What to do if my child is born with NF?
A: NF is a condition that has the potential to involve several parts of the body. Children with NF generally need assessments by different specialist doctors. Surveillance is important as several features and complications of NF develop at different ages.
Be Positive. Learn as much as you can about NF, it will help you to better manage any problems as your child grows older. Focus on your child’s strengths. With the right support, there is nothing your child can’t achieve.
Assessment of children with Neurofibromatosis:
The following should be recorded at each annual visit –
*Asymptomatic children should also have one baseline assessment of colour vision and visual fields at the appropriate developmental age.
Doctors you may need to consult for children with Neurofibromatosis:
References: 1. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. Evans DG et al. J Med Genet. 2002 May; 39(5):311-4. 2. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.Rosalie E Ferner et al. J Med Genet 2007 Feb; 44(2): 81–88.
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