Neurofibromatosis

WHAT IS NEUROFIBROMATOSIS?

Neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues. These disorders cause tumours to grow on nerves and produce other abnormalities such as skin changes and bone deformities.

Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual's genes. Once this change has taken place, the mutant gene can be passed on to succeeding generations. Scientists have classified the disorders as Neurofibromatosis Type 1 (NF1) and Neurofibromatosis Type 2 (NF2). NF1 is the more common type of the Neurofibromatosis. About 1 in 2,500 babies born in the UK has NF1 and 1 in every 35,000 has NF2. Men and women are equally affected.

WHAT ARE THE SYMPTOMS?

In NF1 symptoms usually appear in early childhood. A telltale sign is the presence of coffee-coloured birthmarks known as 'cafe-au-lait' spots. At least six of these are present at birth or develop within the first five years of life.

After puberty, lumps and bumps develop under the skin and sometimes internally. These growths may increase in size - they can press on nerves and affect vision. Rarely the growths may become cancerous. Other features can include high blood pressure, curvature of the spine, and speech or hearing problems. Epilepsy may develop. Many affected children have Learning Difficulties.

NF2 can be more serious. Although there are rarely any outward signs of growths, benign tumours may form internally. The acoustic nerves (hearing) are most commonly affected, but there are also often tumours on the nerves running down the spine to control the limbs. Often the first symptom, hearing loss, starts in the teenage years or early 20s. Other problems include brain tumours, cataracts and skin tumours.

IS THERE ANY TREATMENT?

Treatments for both NF1 and NF2 are presently aimed at controlling symptoms. Surgery can help some NF1 bone malformations and remove painful or disfiguring tumours; however, there is a chance that the tumours may grow back and in greater numbers. In the rare instances when tumours become malignant (3 to 5 percent of all cases), treatment may include surgery, radiation, or chemotherapy.

For NF2, improved diagnostic technologies, such as MRI, can reveal tumours as small as a few millimetres in diameter, thus allowing early treatment. Surgery to remove tumours completely is one option but may result in hearing loss. Other options include partial removal of tumours, radiation, and if the tumours are not progressing rapidly, the conservative approach of watchful waiting. Genetic testing is available for families with documented cases of NF1 and NF2. New (spontaneous) mutations cannot be confirmed genetically.

WHAT IS THE PROGNOSIS?

In most cases, symptoms of NF1 are mild, and patients live normal and productive lives. In some cases, however, NF1 can be severely debilitating. In some cases of NF2, the damage to nearby vital structures, such as other cranial nerves and the brainstem, can be life-threatening.

For further information click here

To Download This Page As An MP3 File click here

Back to top

***

Please note that every care is taken to ensure that the information included on this webpage is accurate. However, should you discover any information which you believe to be inaccurate please Contact Us as soon as possible.

Although the information we have provided here is meant to be helpful to you, Douglas Silas Solicitors cannot be held responsible for any damage or loss caused by any inaccuracy or reliance placed upon it. If you have any concerns about your child, you should seek professional educational or healthcare advice as soon as possible.