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Neurocutaneous Syndromes

What are neurocutaneous syndromes?

Neurocutaneous syndrome is a broad term for a group of rare neurological (brain, spine, and peripheral nerve) disorders. These diseases are life-long conditions that can cause tumors to grow inside the brain, spinal cord, organs, skin, and skeletal bones. The most common disorders found in children are skin lesions.

The three most common types of neurocutaneous syndromes include the following:

What causes neurocutaneous syndromes?

Tuberous sclerosis, NF, and Sturge-Weber disease are all conditions that are congenital (present at birth).

Tuberous sclerosis is an autosomal dominant condition. Autosomal means that both males and females are equally affected and dominant means that only one copy of the gene is necessary to have the disorder. A parent with TS has a 50/50 chance of having a child with TS. Many children born with TS are the first cases in a family, since the majority of TS is caused by a new gene change (mutation), and is not inherited. However, parents of a child with TS may have very subtle symptoms of the disorder, and should be carefully examined. Even if no symptoms are present, the parents are considered at a slightly increased risk to have another child with TS, greater than that of the general population.

Neurofibromatosis (NF) is an autosomal dominant condition caused by a gene on chromosome 17, which is inherited from a parent with the disease (in half of the cases). A parent with NF has a 50/50 chance of having a child with the disease.

NF may also be the result of a new gene change (mutation). Half of NF cases are caused by a new mutation and not inherited. Males and females are equally affected, regardless of how the disease occurs.

The cause of Sturge-Weber disease is unknown, and is considered to be sporadic (occurs by chance). Sometimes, other family members will have hemangiomas (a benign growth that consists of blood vessels) to a lesser degree than the person with Sturge-Weber disease.

What are the symptoms of neurocutaneous syndromes?

The child may have varying degrees of symptoms associated with each condition. The following are the most common symptoms of tuberous sclerosis, neurofibromatosis, and Sturge-Weber disease. Symptoms may include:

The symptoms of neurocutaneous syndromes may resemble other conditions. Always consult your child's physician for a diagnosis.

How are neurocutaneous syndromes diagnosed?

Tuberous sclerosis, NF, and Sturge-Weber disease are congenital (present at birth). The diagnosis is made with a physical examination and diagnostic tests. During the examination, the physician obtains a complete prenatal and birth history of the child and asks if other family members are known to have any of these conditions. In older babies and children, the physician will also ask about developmental milestones, since these disorders can be associated with other neurological problems and may require further medical follow up.

Diagnostic tests may include:

Treatment of neurocutaneous syndromes:

Specific treatment for neurocutaneous syndromes will be determined by your child's physician based on:

Since neurocutaneous syndromes are life-long conditions that are not curable, the focus is on medically managing the symptoms. A child is best treated with an interdisciplinary team that may include the following healthcare providers:

Surgery may be needed to remove tumors that may be cancerous, as well as for cosmetic reasons.

Life-long considerations for a child with neurocutaneous syndromes:

Since tuberous sclerosis, NF, and Sturge-Weber disease are life-long conditions that are not correctable, management includes focusing on preventing or minimizing deformities and maximizing the child's capabilities at home and in the community. Positive reinforcement will encourage the child to strengthen his/her self-esteem and promote independence.

The full extent of the disease is usually not completely understood immediately after birth, but may be revealed as the child grows and develops.

Genetic counseling may be recommended by the physician to provide information on the recurrence risks for these disorders and any available testing.

Click here to view the
Online Resources of Neurological Disorders


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