Neurofibromatosis is a condition that can affect both children and adults. A diagnosis of this nerve tumor issue in your child can be alarming. Understanding neurofibromatosis and how it can be treated will give you peace of mind and allow you to make proper treatment decisions with the guidance of your neurosurgeon.

About Neurofibromatosis

A condition of the neurological system, neurofibromatosis is the growth of tumors on the nerves throughout the body. In most instances, these (usually) small tumors are benign. However, when large enough, they can impair normal function or cause pain and discomfort. If this is the case, such tumors usually need to be addressed surgically.

There are three types of neurofibromatosis – Neurofibromatosis I (also known as NF1), Neurofibromatosis II (frequently referred to as NF2).

Signs and Symptoms of Neurofibromatosis

The majority of tumors caused by neurofibromatosis are benign, meaning they’re non-cancerous. Despite this, they can still cause problems if they are growing on the spinal cord or spinal nerve roots. Below are some of the most common signs and symptoms of both neurofibromatosis I & II.

NF1 Signs and Symptoms

NF1 can show up through skin discolorations, such as freckles in your child’s groin or under their arms, development of neurofibromas (small, usually benign tumors that grow on the nerves), tan skin spots, changes to the irises of your child’s eyes, or even bone changes. It is not uncommon for NF1 spinal tumors (approximately 95 percent of cases) to cause no symptoms at all.

NF2 Signs and Symptoms

NF2 often makes itself apparent in a different way from NF1. The development of hearing loss and/or tinnitus from benign tumors, called schwannomas, affecting the auditory nerve in the brain, is the classic presentation of this disease.  Additionally, these patients can get spinal schwannomas that can affect strength and balance and other tumors of brain and spine such as meningiomas and ependymomas.

Although it is more common in NF2, both types of NF can cause problems through the compression of nerve roots or the spinal cord. If this occurs, symptoms can include numbness, tingling, pain, bowel and bladder control issues, and weakness or clumsiness.

Diagnosis of Neurofibromatosis

If you or your child is displaying any of the signs or symptoms of neurofibromatosis, it’s integral to see your internist or pediatrician as soon as possible. The symptoms of NF can be the same as many other conditions, so diagnosis is essential to ensure proper treatment. Your doctor will perform a thorough physical exam and may perform a neurological exam as well. If he or she suspects neurofibromatosis, you will most likely be referred to a neurologist or neurosurgeon.

An MRI or CT scan may be recommended to check for tumors in the spine. These are the best diagnostic tools for finding neurofibromas, meningiomas, and schwannomas in the spine and near the brain.

Treatment Options for Neurofibromatosis

Depending on the nature of the tumors associated with NF, treatment options will vary. The location, size, and any symptoms you or your child might be experiencing help determine what sort of treatments would be best suited to their particular case.

In the instance of small tumors that are not causing symptoms, monitoring is usually recommended, with an annual MRI to check and make sure the tumors are not growing or changing.

If the tumors are larger, are growing, or are causing symptoms, it is usually advised that they are surgically removed. Many of these surgeries for these types of tumors can be performed in a minimally invasive procedure using a specialized surgical microscope and instruments. This reduces the chance of infection and minimizes recovery time.

In rare instances where the tumor is very large and has affected the bone in the spine significantly, a spinal stabilization and fusion surgery may be performed after tumor removal to compensate for any structural damage caused by the tumor.