Neurocutaneous Syndromes | Diagnosis & Treatments

How do I know if my child has a neurocutaneous syndrome?

Tuberous sclerosis, neurofibromatosis, and Sturge-Weber disease are congenital conditions, which means they are present when your child is born.

Depending on your child’s symptoms and the type of syndrome, it may be some time before a diagnosis is made.

How we diagnose neurocutaneous syndromes

When you make an appointment, we start by requesting all outside imaging, labs, notes, and photographs to begin preparation for your visit.

  • Your visit includes a complete medical history and thorough physical exam.
  • During this exam, your doctor obtains a complete prenatal and birth history of your child and asks if other family members are known to have any of these conditions.
  • In older babies and children, your doctor will also ask about developmental milestones, since these disorders can be associated with other neurological problems and may require further medical follow-up.

How do we treat neurocutaneous syndromes?

  • The first step is to have your child evaluated by members of an experienced interdisciplinary medical team.
  • No single specialist can manage these syndromes and their associated problems, as different interventional techniques and surgical procedures are often needed.

Because there is no cure for these syndromes — and they're progressive conditions — we believe that treating your child's symptoms is the most effective way to manage the disease.

How do I manage my child's condition?

We recommend that your child be treated by an interdisciplinary team that may include the following healthcare providers:

  • pediatrician/family practitioner
  • neurologist — a physician who specializes in conditions of the brain and nerves
  • neurosurgeon — a surgeon who specializes in operating on the brain and spinal cord
  • orthopedic surgeon — a surgeon who specializes in conditions of the muscles, tendons, ligaments, and bone
  • ophthalmologist — a physician who specializes in conditions of the eye
  • nurse
  • rehabilitation team (physical, occupational, speech therapy, audiology)

What is the long-term outlook for my child?

That depends on a few factors:

  • the extent of the disease
  • the overall health of your child
  • your child's tolerance of specific medications, procedures, or therapies
  • new developments in treatment

Every child is unique and your care team will work with you to develop a treatment plan that works for your family.

Will my child get better?

These syndromes are progressive conditions, which means that they will grow as your child grows. That said, we have many effective ways to manage your child’s symptoms.

What do we do after treatment is over?

Your doctor may recommend a series of follow-up visits to check for complications and make sure that we’re managing your child’s condition effectively.

A typical follow-up visit may include some or all of the following:

  • a physical exam
  • laboratory testing
  • imaging scans

Coping and support

Patient education: From the first office visit, our nurses will be on hand to help answer any questions you may have — What kind of tests will my child need? What are the next steps in treatment? They will also reach out to you by phone, continuing the care and support you receive.

Parent to parent: Want to talk with someone whose child has been treated for the same condition? We can often put you in touch with other families who can share with you their experience at Boston Children’s.

Faith-based support: If your child is in the hospital and you are in need of spiritual support, we will help connect you with the Boston Children’s Department of Spiritual Care (chaplaincy). Our program includes nearly a dozen clergy representing Episcopal, Jewish, Lutheran, Muslim, Roman Catholic, Unitarian, and United Church of Christ traditions who will listen to you, pray with you, and help you observe your own faith practices during your hospital experience.

Social work: A social worker can offer counseling and assistance with issues such as coping with your child’s diagnosis, stresses relating to contending with illness and dealing with financial difficulties.

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  • resources that are available for your family