Schwannomatosis: Symptoms, Causes and Treatment

Overview

Schwannomatosis is a rare genetic disorder (family disease) as a form of neurofibromatosis that has only recently been identified. It can affect the nerves in the head, spin, and peripheral nerves. It causes benign tumors called schwannomas usually on spinal and peripheral nerves.

Tumor development appears to be primarily related to a change or mutation in certain genes that help regulate cell growth in the nervous system. These mutations prevent the genes from making the normal proteins that control cell proliferation, allowing cells to multiply excessively and form tumors. It may occur most often in people between the ages of 30 and 60.

The exact frequency of Schwannomatosis cases is unknown, though some populations have noted frequencies as few a 1 case per 1.7 million people.

Symptoms

The symptoms caused by schwannomatosis depends on the size and location of the schwannomas. Affected people have the most common symptom: chronic pain, which can occur anywhere in the body caused by schwannomas pressing on nerves or surrounding tissues. The intensity and frequency of pain vary significantly from people to people who are affected. Besides, Schwannomatosis can cause neurological dysfunction. It can reduce the quality of life for some patients. Other signs of Schwannomatosis may include:

  • Numbness or tingling
  • Weakness, including facial weakness
  • Difficulty with bowel dysfunction or urinating
  • Vision changes
  • Headaches
  • Lumps or swollen areas where tumors form under the skin

Causes

In some cases, schwannomatosis is caused by the changes of a gene called MARCB1 or LZTR1, which are tumor suppressor genes. These genes can encode a protein that keeps cells from growing and dividing too rapidly in an uncontrolled way. If there is a mutation in these genes, it will cause abnormal proteins which are incapable of playing a normal part. It is possible for the changes of these genes to be inherited or passed along to patients’ offsprings.

For some affected people without a mutation in MARCB1 or LZTR1, the underlying cause of the disease is not fully understood.

Diagnosis

It is difficult to diagnose schwannomatosis because symptoms vary widely among affected individuals, and many of the symptoms are shared by other disorders. Additional tests can then be conducted to figure out the conditions of the tumors and further support the diagnosis, which include:

  • CT (computed tomography) scans

It is used to look for growths on nerve tissue.

  • MR scans

It uses magnets, radio waves, and computer technology to produce images of organs and tissues such as the brain and spinal cord.

  • Genetic testing

It is used to look for changes or mutation in the SMARCB1 or LZTR1 genes. Unfortunately, genetic testing is not informative in all people affected by schwannomatosis.

Treatment

The treatment of schwannomatosis is based on the signs and symptoms present in each person.

Treatment with medications for common pain can be used such as gabapentin or pregabalin. The doctor may also recommend short-acting opioids. For larger or symptomatic tumors, surgical intervention to remove schwannomas is usually recommended.

In most cases, complete removal of these tumors can be safely achieved by using a surgical microscope, which are very fine instruments, and a variety of other microsurgical techniques. For some patients with large dumbbell tumors, surgeons will consider spinal stabilization and fusion following the complete tumor removal. However, this treatment is often used as a last resort, for surgery may put patients at risk of further neurologic problems.

Keywords: schwannomatosis.

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* The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.