Neurofibromatosis or NF refers to a number of inherited conditions that are clinically & genetically distinct & carry a high risk of tumor formation, particularly in the brain. Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop. If any one parent has neurofibromatosis, his or her children have a 50% chance of developing this condition. The severity in affected individuals can vary. Nearly half of these cases are due to de novo mutations with no other affected family members to be found. It affects males & females equally. In addition, some individuals may have mosaic NF, in which some but not all cells of the body carry these mutations.
Neurofibromatoses are as follows –
- Neurofibromatosis type I – in which nerve tissues grow tumors that may cause serious damage by compressing nerves & other tissues
- Neurofibromatosis type II – often leading to hearing loss
- Schwannomatosis – in which painful schwannomas develop
What is Neurofibromatosis?
Neurofibromatosis is abnormal growth of tumors on & around nerve tissues. This mainly affects the skin, nerves, brain & spinal cord. These are mostly non-cancerous, growths which cause deformities in skin & bones of the children. Larger tumors can affect surrounding organs by putting pressure on them.
Symptoms of Pediatric Neurofibromatosis
In the mild form of neurofibromatosis brown colored spots can be seen on the skin of the child. These spots are small & usually found in places where the skin wrinkles. Some neurofibromas (tumors) are also found on the nerve tissues & under the skin. This type is mostly found in children attaining puberty.
Major symptoms of neurofibromatosis include –
- Colored spots on the skin
- Slight bumps under the skin caused by small non cancerous tumors
- Miniscule growth in the iris of the eye which can be observed
- Deformation in the spinal column (scoliosis) is also seen in more severe forms of neurofibromatosis
- Lower leg bone may be bent abnormally
- More severe cases display symptoms like slower learning & cognitive abilities
- Most severe cases experience ringing in the ears, facial weakness accompanied by headaches & loss of balance
What Causes Neurofibromatosis?
All types of neurofibromatosis are believed to be genetic disorders. This is caused by mutation in the sperm or egg during conception. This disorder is the result of loss of neurofibromin protein due to mutation of the neurofibromatosis gene. It allows uncontrolled cell growth, causing tumors.
Types of Neurofibromatosis
Neurofibromatosis is basically of three types –
NF1 – This is the mildest form & is also known as peripheral neurofibromatosis. Most cases of this type of neurofibromatosis display coffee or brown colored spots on the skin as well as under the skin. Abnormal cell growth results in deformation in the bones. A few cases may also experience a bend in the spinal. There is a risk of tumor growing in the brain as well as the surrounding nerves of the spinal cord.
NF2 – This is more severe form but rare than NF1. It is also known as Bilateral Acoustic Neurofibromatosis. Persons affected by this type of neurofibromatosis also display tumor in the brain & spinal nerves. Severe lesions on the brain & spinal cord are also seen in some instances. This type affects the auditory nerves severely. The tumor affecting the auditory nerves causes hearing loss & impaired balancing ability.
Schwannamatosis – This is the rarest from of neurofibromatosis. It causes severe deformation in the brain & spinal cord. Hearing loss & affected balance are symptoms shown by persons affected with this type of neurofibromatosis.
Treatment of Neurofibromatosis
Doctors will be able to diagnose this type of neurofibromatosis by conducting certain tests. Patients suspected to be suffering from NF1 will have to undergo MRI scan or X-ray test so as to determine abnormal growth in bones or tumors. Certain audiometry tests are also conducted to check for hearing loss. This will help determine NF2. Other methods consist of imaging tests in order to check for cancerous growth in the auditory nerves, spinal cord & brain. Most cases of neurofibromatosis are mild & neurofibromas can be removed by a simple cosmetic surgery. If diagnosis shows an advanced form of neurofibromatosis then chemotherapy, radiation & surgery would be advisable. In case of NF2 the surgeon would require to remove the auditory nerves in order to further restrict the growth of cancer.
Choosing India for Neurofibromatosis Treatment & Surgery
It is essential to determine type of neurofibromatosis early in a child’s life. Early detection ensures faster treatment which needs to be performed only by experienced pediatric surgeons. India boasts of skilled & experienced surgeons who closely study, examine & evaluate patient’s needs & post treatment activities. India has a wide network of reputed healthcare facilities which cater to needs of patients & their families at affordable prices. All hospitals are well equipped so as to provide pre & post care treatments. All Indian metropolitan cities like Mumbai, Delhi, Goa, Kerala, Nagpur, Chennai, & Bangalore are internationally well connected for a convenient & hassle free medical experience for patients from all around the world.