Longitudinal Neuroimaging in Sturge-Weber Syndrome

Summary

In this project the accuracy of a novel, rapid magnetic resonance imaging (MRI) approach to detect brain abnormalities in patients with Sturge-Weber syndrome (SWS) will be tested; this new imaging approach, that can create multiple types of MR images in about 5 minutes, without contrast administration (and sedation even in young children), can be also readily applied in other pediatric brain disorders in the future. The investigators will also study how advanced MRI, including susceptibility-weighted and diffusion tensor imaging can detect detailed signs of brain vascular and neuronal reorganization that helps improve neurological and cognitive outcome of children and young adults with SWS, who could benefit from targeted interventions in the future to minimize neurocognitive deficits in affected patients. All enrolled subjects will undergo advanced brain MRI and neurocognitive evaluation to achieve these goals.

Eligibility

Inclusion Criteria:

1. Subjects with Sturge-Weber syndrome (SWS):

   1. Age 3 months - 30 years;
   2. Presence of a facial port-wine birthmark (PWB) indicating a risk for SWS and/or evidence of SWS brain involvement based on the presence of one or more intracranial SWS brain abnormalities from previous clinical imaging (MRI or computed tomography) scan(s) with or without a facial PWB. SWS brain abnormalities can include both brain vascular and/or parenchymal abnormalities (including atrophy, calcification, etc.);
   3. In children who will undergo formal neuropsychology testing including detailed language testing (age 3 years and above): proficiency of English language.
2. Healthy control subjects:

   1. Age 3 years - 30 years;
   2. No history of neurological or psychiatric disorder

Exclusion Criteria:

For all subjects:

1. Metal in the head or mouth that would preclude safe, artifact-free MRI scanning; or any other metal or electronic device contraindicated for MRI scanning.
2. History of severe claustrophobia, precluding staying still in the scanner for up to 30 minutes.
3. Pregnancy (pregnant women will be scheduled for the study after delivery).

For SWS subjects, who will receive MRI contrast material, additional exclusion criteria:

1. History of sensitivity to MRI contrast material;
2. History of renal disease that would preclude safe administration of MRI contrast material

Conditions2

Locations1 site

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