Diagnosis and Treatment for Neurofibromatosis

Diagnosis-
Neurofibromatosis can only be detected with physical findings. Café-au-lait spots are the characteristic features of Neurofibromatosis. NF1 can be diagnosed with the above mentioned condition, while the diagnosis of NF2 is done by seeing mass on the acoustic nerve or any other distinctive nervous tumor. If the parent or the sibling has either of the condition then the chances are that the person may suffer from this condition.

One can monitor the progress by testing the vision and hearing. X-rays are performed to study the bones and to check any kind of deformity. Similarly CT scans and MRI are also done to keep in check the progress of the tumors and its development.

Treatment-
Unfortunately there are no available treatments for the disorder. One can however to certain extent treat the NF1 and NF2 condition individually. The tumors of the skin can be removed surgically. Tumors of the brain, nerves can be removed surgically but the chances of risk cannot be evaded. After this the treatment with drugs and radiation therapy is also continued. The deformity of the bones like the twisting of legs, spine can be corrected with special brace that is introduced surgically.

In case of café-au-lait spots no treatment is done. The tumors have tendency to come back. The worst part is that the tumors can be developed in certain places where they cannot be removed with surgical procedure. Such tumors can be very painful. The rapid growing tumors have to be removed as they can become malignant in the long run.

The NF2 case can be treated with surgery, radiation therapy. The treatment will depend on the location of the tumor along with the extent of its spread. Some patients are likely to develop cataract in the long run. If the parent carries this abnormal gene then the child of the parent are subjected to periodic tests. Scoliosis patents need to wear brace in the spine. Severe Scoliosis is corrected with metal rods and the curvature is corrected, while the spontaneous change cannot be prevented.