Testing & Diagnosis for Neurocutaneous Syndromes in Children

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Contact the Department of Neurology

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, however, and the type of syndrome, it may be some time before a diagnosis is made.

How will my child be diagnosed?

When you make an appointment at Boston Children’s Hospital, 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.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital
300 Longwood Avenue, Boston, MA 02115
For Patients: 617-355-6000
For Referring Providers: 844-BCH-PEDS | 844-224-7337