Longitudinal Neuroimaging in Sturge-Weber Syndrome

This project will combine advanced neuroimaging with detailed neuro-psychology evaluation, performed in both children and young adults affected by Sturge-Weber syndrome, in order to address two main aims, each of them with two research hypotheses:

AIM 1. To determine the accuracy of a novel, rapid MRI approach for detection of early and advanced SWS brain abnormalities as compared to a standard MRI acquisition (current clinical standard).

Hypothesis 1.1. In young children with SWS, rapid MRI using STAGE will detect the presence and extent of brain involvement with high accuracy when compared to standard MRI.

Hypothesis 1.2. In children, adolescents, and young adults, rapid MRI using STAGE will have high accuracy to detect advanced brain vascular and parenchymal abnormalities as compared to standard MRI.

Since the detrimental neurocognitive effects of SWS brain involvement are most robust during the early disease course, early interventions, including preventive antiepileptic treatment in children with high-risk port-wine birthmark are being considered. This paradigm changing therapeutic approach would greatly benefit from safe, accurate imaging for rapid screening not requiring sedation or contrast injection. In this aim, the investigators will evaluate a recently developed, rapid, multi-echo MRI acquisition protocol (STAGE: Strategically Acquired Gradient Echo) for its ability to detect early and late SWS-related vascular and brain tissue abnormalities.

AIM 2. To assess the role of key vascular and neuronal compensatory mechanisms in neurocognitive outcome in unilateral SWS.

Hypothesis 2.1. Extensive ipsilateral deep vein collaterals will protect the SWS-affected hemisphere as indicated by relatively preserved structural brain integrity and global neurocognitive functions.

Hypothesis 2.2. In unilateral SWS, reorganized structural networks in the contralateral cerebral hemisphere will predict alterations in specific cognitive, motor, language, and executive functions.

Recent studies revealed two, potentially powerful compensatory mechanisms that may offset the effects of SWS-related brain injury in unilateral SWS: (i) expanding ipsilateral deep venous collaterals, and (ii) contralateral brain reorganization associated with preserved verbal functions at the cost of non-verbal abilities ("crowding" effect) in left-hemispheric SWS. Here the investigators will use advanced MRI techniques (such as susceptibility-weighted and diffusion tensor imaging (DTI)-based connectome analysis) to evaluate the long-term global and specific neurocognitive effects of venous vascular remodeling and structural reorganization, respectively.

Inclusion criteria

• Subjects with Sturge-Weber syndrome (SWS):

• Age 3 months - 30 years;
• 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.);
• In children who will undergo formal neuropsychology testing including detailed language testing (age 3 years and above): proficiency of English language.
• Healthy control subjects:

• Age 3 years - 30 years;
• No history of neurological or psychiatric disorder

Exclusion criteria

For all subjects:

• 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.
• History of severe claustrophobia, precluding staying still in the scanner for up to 30 minutes.
• Pregnancy (pregnant women will be scheduled for the study after delivery).

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

• History of sensitivity to MRI contrast material;
• History of renal disease that would preclude safe administration of MRI contrast material