Golisano Children's Hospital / Pediatric Orthopaedics / Conditions We Treat / Neurofibromatosis

Neurofibromatosis

What are neurocutaneous syndromes in children?

Neurocutaneous syndromes are disorders that affect the brain, spinal cord, organs, skin, and bones. The diseases are lifelong conditions that can cause tumors to grow in these areas. They can also cause other problems, such as hearing loss, seizures, and developmental problems. Each disorder has different symptoms. The most common disorders in children cause skin growths.

The 3 most common types of neurocutaneous syndromes are:

Tuberous sclerosis (TS)
Neurofibromatosis (NF), including NF1, NF2, and schwannomatosis
Sturge-Weber disease

What causes a neurocutaneous syndrome in a child?

These diseases are all present at birth (congenital). They are caused by gene changes.

Tuberous sclerosis (TS) is an autosomal dominant disorder. Autosomal means that both boys and girls are affected. Dominant means that only 1 copy of the gene is needed to have the condition. A parent with TS or the gene for TS has a 50% chance to pass the gene on to each child. Many children born with TS are the first cases in a family. This is because most cases of TS are caused by a new gene change (mutation) and are not inherited. But the parents of a child with TS may have very mild symptoms of the disorder. The parents are believed to have a slightly increased risk of having another child with TS.

Neurofibromatosis Type 1 (NF1) occurs in about 1 in 3,000 to 4,000 babies in the U.S. NF1 is an autosomal dominant disorder. It’s caused by changes in a gene on chromosome 17. In half of the cases, this is inherited from a parent with the disease.

Neurofibromatosis Type 2 (NF2) is less common, is also an autosomal dominant disorder. It affects about 1 in 25,000 babies in the U.S. The gene change that causes NF2 is on chromosome 22.

A parent with NF has a 1 in 2 chance of passing on the genetic mutation and disease to each child.

NF may also be the result of a new gene change. From 3 in 10 to 1 in 2 cases of NF are caused by a new mutation and not inherited. Boys and girls are equally affected.

Schwannomatosis is a form of NF. It's rare, and only 3 in 20 cases are inherited. There are 2 genetic forms of schwannomatosis:

Schwannomatosis 1. This is caused by mutations in either the SMARCB1 or LZTR1 genes. This condition is also known as congenital cutaneous neurilemmomatosis.
Schwannomatosis 2. This condition starts in adulthood. It causes schwannomas (benign nerve tumors) to grow throughout the body. But it has no other symptoms.

The cause of Sturge-Weber disease is not known. Researchers think it occurs by chance (sporadic). In some cases, other family members have hemangiomas. These are noncancer (benign) growths that are made of blood vessels. Some children with this condition may have mutations in a gene called GNAQ.

Which children are at risk for a neurocutaneous syndrome?

A child is more at risk for a neurocutaneous syndrome if they have a family member with one of the syndromes.

What are the symptoms of a neurocutaneous syndrome in a child?

Symptoms can occur a bit differently in each child. Below are the most common symptoms for each condition:

Tuberous sclerosis

This causes growths called tubers to grow in the brain and retina of the eye. Tuberous sclerosis also affects many other organs in the body. It can affect the brain, spinal cord, lungs, heart, kidneys, skin, and bones. Some of the symptoms include intellectual disability, developmental delays, seizures, and learning disabilities. Areas of white skin (called Chagrin patches) and other skin abnormalities may appear.

Neurofibromatosis Type 1 (NF1)

This is the more common type of neurofibromatosis. It's also called Von Recklinghausen's disease. The classic symptom of NF1 is light brown patches of pigment on the skin. These are known as cafe-au-lait spots. A child may also have skin tumors that are not cancer (benign). These are called neurofibromas. Neurofibromas are often found growing on the nerves and in organs. There is a higher rate of brain tumors in people with NF. Less than 1 in 100 people with NF1 will have cancer (malignant) in the neurofibromas. An older child may also have Lisch nodules. These are small tumors on the colored part of the eye (iris). These usually do not cause problems. Other symptoms can include hearing loss, headaches, seizures, scoliosis, and facial pain or numbness. Intellectual disability of varying degree may be slightly more common in people with NF1. About half may have a variety of learning problems and attention deficit disorder. Renal artery stenosis and other vascular problems may occur with NF1.

Neurofibromatosis Type 2 (NF2)

NF2 affects about 1 in 25,000 people. The symptoms usually appear between ages 18 and 22. The tumors called schwannomas grow on a vestibular nerve branch. These are known as bilateral vestibular schwannomas. These tumors on the 8th cranial nerve can lead to hearing loss, headaches, problems with facial movements, problems with balance, and trouble walking. A child may have hearing loss. Other signs of NF2 may include seizures, tumors of the membranes around the brain and spinal cord (meningiomas), skin nodules (neurofibromas), cataract, and cafe-au-lait spots.

Schwannomatosis

This type of neurofibromatosis causes schwannomas to grow through the body, but without other symptoms of NF1 or NF2. A schwannoma is a tumor of the peripheral nervous system that happens in the nerve’s protective covering known as the nerve sheath.

The main symptom is intense pain that occurs when a schwannoma grows larger or presses on a nerve or nearby tissue. Other symptoms may include numbness, tingling, or weakness in the fingers and toes.

Sturge-Weber disease

The classic symptom of this disease is a mark on a child’s face called a port wine stain. A port wine stain is a flat area on the skin that varies in color from red to dark purple. It's present from birth. It's most often found near or around the eye and forehead. The birthmark is caused by too many tiny blood vessels forming under the skin. There may also be related brain abnormalities on the same side of the brain as the face lesion. A child may also have seizures, muscle weakness, changes in vision, and intellectual disability. A child may also have increased pressure in the eye (glaucoma) at birth. Sturge-Weber disease does not affect the other organs of the body.

The symptoms of neurocutaneous syndromes can be like other health conditions. Make sure your child sees their healthcare provider for a diagnosis.

How is a neurocutaneous syndrome diagnosed in a child?

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. They will give your child a physical exam. Your child may also have tests, such as:

Genetic tests. These are blood or saliva 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.

How is a neurocutaneous syndrome treated in a child?

Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is. Neurocutaneous syndromes are lifelong conditions that have no cure. Because of this, your child’s healthcare providers will work to:

Manage symptoms such as seizures
Prevent or lessen problems
Make the most of a child's abilities

A child is treated by a healthcare team that may include:

Pediatrician or family healthcare provider. This is a child’s primary healthcare provider.
Neurologist. This is a healthcare provider who treats conditions of the brain, spinal cord, and nerves.
Neurosurgeon. This is a surgeon who treats the brain and spinal cord.
Orthopedic surgeon. This is a surgeon who treats muscles, ligaments, tendons, and bones.
Ophthalmologist. This is a healthcare provider who treats eye problems.
Oncologist. This is a healthcare provider who treats cancer and other tumors.
Rehabilitation team. This team may include physical, occupational, speech, and audiology therapists. It may also include nurses, and social workers.

Treatment varies as needed. In some cases, surgery may be done to remove tumors that may be cancer or for cosmetic reasons.

Talk with your child’s healthcare providers about the risks, benefits, and possible side effects of all treatments.

How can I help prevent a neurocutaneous syndrome in my child?

Your healthcare provider may advise genetic counseling. You can discuss with a counselor the risk for a neurocutaneous syndrome in a future pregnancy.

How can I help my child live with a neurocutaneous syndrome?

A neurocutaneous syndrome 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 their abilities. You can help your child strengthen their 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.

The full extent of a neurocutaneous syndrome is usually not completely known right after birth. It can become clearer as a child grows and develops. It's important to keep scheduled follow-up appointments with healthcare providers so ongoing observation and support can be given to both your child and family.

When should I call my child’s healthcare provider?

Call the healthcare provider if your child has:

Symptoms that don’t get better, or get worse
New symptoms

Key points about neurocutaneous syndromes in children

Neurocutaneous syndromes are disorders that affect the brain, spinal cord, organs, skin, and bones.
The diseases are lifelong conditions that can cause tumors to grow in these areas. They can also cause other problems, such as hearing loss, seizures, and developmental problems.
Each disorder has different symptoms. The most common disorders in children cause skin growths.
The 3 most common types of neurocutaneous syndromes are tuberous sclerosis (TS), neurofibromatosis (NF), and Sturge-Weber disease.
These diseases are all present at birth (congenital). They are caused by gene changes.
A neurocutaneous syndrome is a lifelong condition that has no cure. In some cases, surgery may be done to remove tumors that may be cancer or for cosmetic reasons.
Medical follow-up appointments are important for ongoing observation and support.

Next steps

Tips to help you get the most from a visit to your child’s healthcare provider:

Know the reason for the visit and what you want to happen.
Before your visit, write down questions you want answered.
At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
Ask if your child’s condition can be treated in other ways.
Know why a test or procedure is recommended and what the results could mean.
Know what to expect if your child does not take the medicine or have the test or procedure.
If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
Know how you can contact your child’s healthcare provider after office hours. This is important if your child becomes ill and you have questions or need advice.

Online Medical Reviewers:

Joseph Campellone MD

Marianne Fraser MSN RN

Raymond Kent Turley BSN MSN RN