Neurofibromatosis in children

Neurofibromatosis is actually more than one disorder. It actually is two separate disorders. This is because two different chromosomes can be affected by a mutated gene. Neurofibromatosis in children is common and affects one in every 4,000 births. This disorder is typically identified by the growth of tumors on the nerves. The tumor may appear as a flesh colored wart or mole in any area along the nervous tract and on the stomach and gastrointestinal tract, under the armpits and on the spinal column. The growths are called neurofibroma which is another name for a tumor growing on the nerves. This disorder is caused by an abnormal gene being passed onto the child during conception from one parent or it can be caused by a spontaneous gene mutation. Neurofibromatosis occurs in both males and females and in every racial and ethnic group.

There are two different genes that are affected with this disorder. That is why it can actually be referred to as being two disorders. Neurofibromatosis-1 (NF-1) is a disorder that occurs when there is a gene mutation on chromosome 17. Neurofibromatosis-2 (NF-1) occurs when there is a gene mutation on chromosome 22. With the NF-1 type of Neurofibromatosis, tumors can grow on the peripheral nerves and under the skin. NF-1 can cause Café-au-lait spots on the skin that can be very disfiguring. Skull based tumors may also form and there may be complications with optic and vision functioning. Tumors can also grow deeper within the body as well with NF-1.

NF-2 is the rarer form of this disorder. It is the disorder where tumors grow on the brain and spinal nerves. The main complication with NF-2 is visibular schwannoma, or a tumor that grows on the eighth cranial nerve. This nerve controls the child’s balance and hearing. The tumor can grow on either the right or left side of the nerve. A tumor on this nerve will eventually cause the child to be deaf. Removing the tumor can cause damage to the surrounding nerves and is very difficult to remove without affecting them. Only a highly qualified surgeon with years of experience should attempt to remove a tumor here. Spinal tumors are also common with NF-2. In rare cases the spinal tumors can cause paralysis in the child. Normally the spinal tumors cause weakness and numbness in the child’s legs and arms.

Children who are born with Neurofibromatosis will also generally experience common complications such as scoliosis, nodules in the arm pits and groin area and may have vision impairment. The child may also experience problems with a speech disorder and have learning disabilities like ADHD. It is very important that Neurofibromatosis in children be monitored consistently to detect problems with their hearing and vision. Hearing and vision are the two senses that can be profoundly affected by this disorder. Regular MRIs and CT scans of the brain are normally done to rule out the risk of brain tumor development with Neurofibromatosis in children. When a child has this disorder they may also develop seizure disorders. Diagnostic testing is necessary to catch health complications early in the life of a child born with this disorder.

Early intervention and treatment for this disorder is a key and a necessary factor for the optimum health and development of the child. However, the disorder is not usually discovered until the child has reached his or her adolescents. Parents who have children that have warts or moles that appear on the skin should take their child in for medical testing to rule out this genetic disorder. Warts and moles in children may be an early indication of complicated health issues to follow. Hormonal changes during puberty, pregnancy or menopause may also trigger tumor growths in individuals who have Neurofibromatosis.

Parents who have Neurofibromatosis have a 50/50 chance of passing the mutated gene on to their children. The good news is that if the child does not inherit the gene they will not have NF and will not pass the gene down to their children. NF does not skip generations. There are no known cures for Neurofibromatosis and more research needs to be done for this disorder.

Last updated on Dec 17th, 2009 and filed under Neurological Disorders. Both comments and pings are currently closed.

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