NIH-funded Project on Sturge-Weber Syndrome

Title

Longitudinal neuroimaging in Sturge-Weber Syndrom

Narrative

Sturge-Weber syndrome (SWS) is a sporadic neurocutaneous disorder characterized by a facial port-wine birthmark and leptomeningeal vascular malformation (LVM). SWS most often (85%) affects one cerebral hemisphere and has a progressive but highly variable clinical course, thus providing a unique clinical model to study the neurocognitive effects of an early, postnatal, unilateral brain lesion. Most children with SWS develop seizures during the first 2 years of life and also develop neurological symptoms as well as cognitive impairment. Currently, SWS has no cure or specific treatment. With NIH support and nationwide patient recruitment, we have built a clinical imaging research program for children with SWS, in order to understand the pathophysiology of progression and find new diagnostic and treatment paradigms. We have tested novel MRI approaches for more accurate detection of SWS-related brain abnormalities and identified critical age windows when most of the progressive brain damage occurs. Recently, we have also identified two, potentially powerful compensatory mechanisms that may prevent severe neurocognitive complications of SWS-related brain injury: (i) a deep venous vascular remodeling in the ipsilateral (SWS-affected) hemisphere, and (ii) reorganization in the contralateral hemisphere affecting both verbal and non-verbal cognitive functions. We also identified a subgroup of children with SWS whose cognitive functions improved over time, presumably due to effective compensatory processes.

Sponsor Name: National Institute of Neurological Disorders and Stroke - NINDS (2R01NS041922)

Recent findings

Will be prepared soon.

Representative examples of final deep vein masks obtained from two SWS subjects with right hemispheric involvement. 1st column: 2-D 10 mm transverse minimum intensity projection of native susceptibility-weighted imaging, 2nd column: 2-D white matter mask, 3rd column: 2-D final deep vein mask in the affected hemisphere (red) in a selected plane, 4th column: 3-D final deep vein mask in the affected (red) and unaffected hemispheres (blue) that were overlaid with 3-D white matter mask (gray) and 3-D basal ganglia mask (peach). Note that only a small number of (likely physiologic) deep vein fragments were detected in the unaffected hemispheres, while calcified areas were successfully excluded.