Pediatric Schwannomatosis

Schwannomatosis can appear almost everywhere in the body. The dominant symptom is pain, which can be excruciatingly intense. Pain develops when a schwannoma enlarges, compresses nerves or presses on adjacent tissue. Some people experience additional neurological symptoms, such as numbness, tingling or weakness in the fingers and toes. Patients with schwannomatosis never have neurofibromas.

The healthcare provider will ask about your child’s symptoms, health history and developmental milestones. They may also ask about your family’s health history and they will give your child a physical exam. Your child may also have tests, such as:

• Genetic tests. These are blood tests. They check for health conditions that tend to run in families.
• MRI. This test uses large magnets, radio waves, and a computer to make images of the inside of the body.
• CT scan. This test uses a series of X-rays and a computer to create images of the inside of the body. A CT scan shows more detail than a regular X-ray.
• Electroencephalogram (EEG). This test records the brain's electrical activity through sticky pads (electrodes) attached to the scalp.
• Eye exam. This is done to check for growths on the retina, cataract, or excess pressure in the eye.
• Biopsy. A small sample of tissue from a tumor or skin lesion may be taken. This is checked with a microscope.

About one-third of patients with schwannomatosis have tumors only on a single part of the body, such as an arm, a leg or a segment of the spine. The number of schwannomas on a patient can vary widely.

There is no currently accepted medical treatment or drug for schwannomatosis, but surgical management is often effective. When tumors are completely removed, pain usually subsides, although it may recur if new tumors form. When surgery is not possible, ongoing monitoring and management of pain in a multidisciplinary pain clinic is advisable.

Schwannomatosis is a lifelong condition that has no cure. Your child’s healthcare providers will work to prevent deformities or keep them to a minimum. They will also work to help your child make the most of his or her abilities. You can help your child strengthen his or her self-esteem and be as independent as possible. Physical and occupational rehabilitation, plus extra support in school, can help a child function as well as possible.