Neurofibromatosis

By | March 30, 2015

Neurofibromatosis is a condition in which tumors are formed on the nervous tissue. It can develop in any place on the nervous system like brain or spinal cord or simply on the nerves. It is a genetic disorder that can seriously affect the cell growth of the nervous system. Often the tumors formed on the nerves are benign and harmless but sometimes they can turn into cancerous cells. This disorder can cause complications like loss of hearing, impaired vision, learning disability and cardiovascular problems. For mild to moderate tumors medications are given to control the symptoms but for large sized tumors surgery is done.

Symptoms and Types :

There are 3 kinds of neurofibromatosis and their symptoms vary accordingly.

  • Neurofibromatosis 1 :

In this type symptoms can be detected in early childhood. The child will develop soft brownish spots on the skin that are called cafeaulait. Freckling appears on the armpits and soft lesions are found under the skin in any part of the body. For some children tiny bumps would be seen on the iris also affecting their vision. As the child grows it may develop bone deficiency and deformities like curving of spine. This disorder will also cause mild learning problems and difficulty in learning language. The child will be lesser than average height for their age.

  • Neurofibromatosis 2 :

This type is not so common and it affects the ears of the children. Tumors grow on the nerves of the ears and affect the hearing ability. It occurs in early teens or sometimes even on adults. The child will lose his hearing ability gradually. Due to the increased growth of bumps (schwannomas) on the nerves anywhere on the body the person may lose balancing skills and may lose sensation on his arms and legs.

  • Schwannomatosis :

This is the third type of neurofibromatosis which is very rare. It causes small to medium sized tumors on the spinal cord and on the peripheral nerves. The main symptom of this type is chronic pain on the body.

Causes :

Neurofibromatosis is a genetic problem and occurs due to defective gene mutation. One of the parents can be the carrier of defective gene which is passed on to the child. If the gene mutation is defective in chromosome 17 it causes NF1 and any problem in the chromosome 22 it can develop symptoms of second type. The disorder occurs due to insufficient secretion of protein neurofibromin and merlin required for nerve cell growth.

Who are at risk?

Children who have a history of parents with neurofibromatosis are at high risk of developing this disorder. Most of the cases of NF1 and NF2 are inherited from the parents.

Complications :

Several kinds of complications can occur due to neurofibromatosis. The tumor cells present in the nerve can seriously affect the growth of nerve tissue. But the complications vary in intensity and location of the tumors. The child can develop cognitive problems as well as learning disability. It can develop epilepsy or stroke due to excess of tumors in the nervous system.

Due to low bone density skeletal problems are common in these children. Abnormal shaped bones, fractures, curvature of the spine and bowing of legs are common. The children can develop loss of vision if the tumor grows inside the iris. Further they are likely to develop heart diseases and hypertension. In rare cases the tumors can become cancerous also. Finally the presence of large fluid filled bumps on the face can cause embarrassment. With NF2 type, hearing loss, facial nerve damage and vision problem can develop.

Diagnosis :

The doctor will collect the medical history of the child and family history from the parents. He would complete physical exam to detect bumps on the skin. Based on the symptoms he would refer the child to ophthalmologist or ENT doctor for identifying the damage. Imaging tests like CT/MRI scan/X-rays will be done to detect the degree of tumor inside.

Images, Pics, Photos and Pictures of Neurofibromatosis :

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Treatment :

Neurofibromatosis has no cure but the symptoms of this disorder can be controlled by medications and therapy. As soon as the symptoms develop on the child parents should consult an expert doctor who is trained in neurofibromatosis. Regular follow-ups of the consultation is absolutely necessary to restore normal health for the child. The doctor would assess the child’s growth, monitor the existing bumps, check for skeletal abnormalities and would assess his learning ability. Multiple specialists have to be consulted for diagnosing physical problems.

Any problems in vision and hearing loss can be corrected to maximum extent by concerned doctors. In case the brownish lesions are rapidly growing in many parts of his body it can be a sign of cancer. Getting prompt treatment at early stage can prevent the child from many complications. Painful tumors have to be removed surgically. If the tumor size is too big or if applies pressure on the neighboring tissues or organs it must be removed. Removal of painful schwannomatosis can give relief from chronic pain.

Surgeries can the best choice for improving the vision and hearing ability of the child. In case of cancer causing tumor your doctor would do radiosurgery for removing the lesions. Powerful radioactive beams are sent directly on the tumor to shrink them permanently. Chemotherapy or radiation therapy will be given along with medications for treating the malignant tumors.

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