1925. Prospective Evaluation of the Effect of Vascular Compensatory Mechanisms on Neurocognitive Outcome in Children with Sturge-Weber Syndrome
Authors * Denotes Presenting Author
  1. Ajay Kumar *; Detroit Medical Center/Wayne State University
  2. Shreya Chalasani; Detroit Medical Center/Wayne State University
  3. Aimee Luat; Children's Hospital of Michigan/Central Michigan University
  4. Osama Intikhab; Detroit Medical Center/Wayne State University
  5. Ibraheem Malkawi; Detroit Medical Center/Wayne State University
  6. Jigarkumar Rangunwala; Detroit Medical Center/Wayne State University
  7. Csaba Juhasz; Detroit Medical Center/Wayne State University
The clinical course and outcome of Sturge-Weber syndrome (SWS) is highly variable, ranging from minimal to severe visual, motor and cognitive impairment, as well as uncontrolled seizures; and does not always appear to be correlated with extent of brain involvement (1). Therefore, in this prospective study, we evaluated the effect of vascular and neuronal compensatory mechanisms on neurocognitive outcome in children with SWS.

Materials and Methods:
23 children with SWS (18 males; mean age 6.8 years, range: 1.5-15 years) were recruited prospectively and underwent brain MRI (including pre/post-contrast T1, T2/FLAIR and susceptibility weighted imaging (SWI), FDG-PET and detailed age-appropriate neuropsychological evaluation. Extent of brain involvement on post-contrast MRI (based on pial enhancement) was scored based on the number of cerebral lobes involved (0-8); hemispheric extent of enlarged deep medullary veins on axial SWI was also scored (0-3 in each lobe, depending on intralobar extent). FDG-PET (available in 18 children) was scored by the number of lobes showing hypometabolism.

Mean IQ was 81 and varied widely (40-111). Higher IQ was associated with smaller extent of pial enhancement (p=0.03), smaller extent of lobar hypometabolism (p=0.03), but more extensive deep medullary veins in the right (DMV-right) but not in the left hemisphere (r=0.63, p=0.02 vs. p=0.78, respectively). More extensive DMV-right was also associated with higher age of seizure onset (r=0.67, p=0.01). In multivariate regression, high DMV-right scores and smaller extent of pial enhancement predicted better IQ independently (partial correlations: r=0.78, p=0.002 and r=-0.70, p=0.008, respectively). In a separate multivariate analysis, DMV-right predicted IQ independent of the number of affected lobes on FDG-PET (p=0.02 vs. p=0.27).

Early and extensive enlargement of deep medullary veins in the right hemisphere is associated with delayed seizure onset and better cognitive outcome in SWS children, independent of the extent of pial enhancement on MRI or hypometabolism on FDG-PET. It appears that enlarged medullary veins are compensatory, and their early emergence can contribute to good neurocognitive outcome in SWS children, if it affects the right hemisphere. This has both prognostic and possible therapeutic implications, and susceptibility weighted imaging can be used as an imaging biomarker for this purpose.