MRI with diffusion-weighted imaging in children and young adults with simultaneous supra- and infratentorial manifestations of Sturge-Weber syndrome

Arulrajah, Sahayini; Ertan, Gülhan; Comi, Anne M.; Tekes, Aylin; Lin, Doris; Huisman, Thierry A. G. M.

doi:10.1016/j.neurad.2009.05.001

Cited by 12 publications

(7 citation statements)

References 24 publications

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“…Although conventional MRI and PET studies showed no frontal involvement in several patients (N=8), multiple frontal WM areas showed decreased FA on the group level, suggesting common involvement of the frontal lobe WM. Concordant with this finding, a recent study on SWS subjects also found diffusion abnormalities in normal appearing WM (9). Our study also demonstrates that cognitive and fine motor dysfunctions are related to microstructural abnormalities in specific ipsilateral, but not contralateral, WM regions.…”

Section: Discussionsupporting

confidence: 73%

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Focal White Matter Abnormalities Related to Neurocognitive Dysfunction: An Objective Diffusion Tensor Imaging Study of Children With Sturge-Weber Syndrome

et al. 2011

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White matter (WM) loss is associated with cognitive impairment in Sturge-Weber syndrome (SWS). In this study, we evaluated if cognitive and fine motor abnormalities are associated with impaired microstructural integrity in specific WM regions in SWS. Fifteen children with unilateral SWS (age: 3-12.4 years) and 11 controls (age: 6-12.8 years) underwent diffusion tensor imaging. Tract Based Spatial Statistics was used for objective comparisons of WM fractional anisotropy (FA) and mean diffusivity (MD) between the two groups. In the SWS group, WM FA and MD values were correlated with IQ and fine motor scores, with age as a co-variate. Bilateral, multilobar WM areas showed decreased FA, while significant MD increases were confined to small ipsilateral posterior regions in SWS children. IQ in the SWS group (range: 47-128) was positively correlated with FA in the ipsilateral prefrontal WM and inversely associated with MD in the ipsilateral posterior parietal WM. A negative correlation between fine motor function and MD was found in ipsilateral frontal WM encompassing motor pathways. Microstructural WM abnormalities occur not only ipsi- but also contralateral to the angioma in unilateral SWS. Nevertheless, cognitive and fine motor functions are related to diffusion abnormalities in specific ipsilateral, mostly frontal, WM regions.

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Section: Discussionsupporting

confidence: 73%

“…Cortical abnormalities are common pathologic substrates of focal epilepsy and progressive neuro-cognitive impairments (4-6). In addition, the white matter (WM) may show structural and biochemical abnormalities, likely resulting from axonal and myelin injury (7-9). This can lead to a variable degree of WM atrophy in the affected hemisphere.…”

Section: Introductionmentioning

confidence: 99%

Focal White Matter Abnormalities Related to Neurocognitive Dysfunction: An Objective Diffusion Tensor Imaging Study of Children With Sturge-Weber Syndrome

et al. 2011

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“…Increased apparent diffusion coefficients in normal-appearing hemispheric white matter and the pons suggest that subcortical abnormalities may contribute to neurocognitive deficits. 30 Hemispheric white matter atrophy independently predicts cognitive dysfunction in children with unilateral SWS. 44 Thalamic diffusion abnormalities have been strongly correlated with IQ measures.…”

Section: Neuroimaging and Pathogenesismentioning

confidence: 99%

“…In one brain magnetic resonance imaging (MRI) study, apparent diffusion coefficients were elevated in the white matter of 15 participants with SWS compared with an unaffected comparison group. 30 One single-patient case report described concurrent transient hemiparesis and abnormal magnetic resonance brain diffusion in the corresponding contralateral hemisphere. 31 These stroke-like episodes are commonly triggered by minor head injury in toddlers with SWS.…”

Section: Advances and Questions In The Definition Neurological Symptmentioning

confidence: 99%

Updates and future horizons on the understanding, diagnosis, and treatment of Sturge–Weber syndrome brain involvement

Marchuk

Ball

et al. 2011

Develop Med Child Neuro

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AIM To review recent developments in the understanding, diagnosis, and treatment of Sturge–Weber syndrome (SWS). METHOD Members of the Brain Vascular Malformation Consortium Sturge–Weber National Workgroup contributed their expertise, to review the literature, and present promising directions for research. RESULTS The increasing number of reports dealing with SWS over the last decade reflects progress in the diagnosis and understanding of the neurological involvement. The proliferation of centers and advocacy groups to care for patients with SWS and to stimulate research has aided the development of new insights into the clinical manifestations and the pathophysiology of neurological progression, and the development of novel hypotheses to direct future research. Many key questions remain, but the tools and networks to answer them are being developed. INTERPRETATION This review summarizes important new knowledge and presents new research directions that are likely to provide further insights, earlier diagnosis, improved treatments, and possibly, prevention of this syndrome.

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“…To address these issues, this study aims to collect a relatively large multisite cohort for this rare disease and develop machine learning biomarkers. Existing MRI studies for SWS usually had ≤155 17–19 or dozens11 16 20 21 of patients with SWS in single sites. We aim to merge existing clinical data from Boston Children’s Hospital (BCH) and Kennedy Krieger Institute (KKI) to achieve an sample size at least five times bigger.…”

Section: Introductionmentioning

confidence: 99%

Study protocol: retrospectively mining multisite clinical data to presymptomatically predict seizure onset for individual patients with Sturge-Weber

et al. 2022

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IntroductionSecondary analysis of hospital-hosted clinical data can save time and cost compared with prospective clinical trials for neuroimaging biomarker development. We present such a study for Sturge-Weber syndrome (SWS), a rare neurovascular disorder that affects 1 in 20 000–50 000 newborns. Children with SWS are at risk for developing neurocognitive deficit by school age. A critical period for early intervention is before 2 years of age, but early diagnostic and prognostic biomarkers are lacking. We aim to retrospectively mine clinical data for SWS at two national centres to develop presymptomatic biomarkers.Methods and analysisWe will retrospectively collect clinical, MRI and neurocognitive outcome data for patients with SWS who underwent brain MRI before 2 years of age at two national SWS care centres. Expert review of clinical records and MRI quality control will be used to refine the cohort. The merged multisite data will be used to develop algorithms for abnormality detection, lesion-symptom mapping to identify neural substrate and machine learning to predict individual outcomes (presence or absence of seizures) by 2 years of age. Presymptomatic treatment in 0–2 years and before seizure onset may delay or prevent the onset of seizures by 2 years of age, and thereby improve neurocognitive outcomes. The proposed work, if successful, will be one of the largest and most comprehensive multisite databases for the presymptomatic phase of this rare disease.Ethics and disseminationThis study involves human participants and was approved by Boston Children’s Hospital Institutional Review Board: IRB-P00014482 and IRB-P00025916 Johns Hopkins School of Medicine Institutional Review Board: NA_00043846. Participants gave informed consent to participate in the study before taking part. The Institutional Review Boards at Kennedy Krieger Institute and Boston Children’s Hospital approval have been obtained at each site to retrospectively study this data. Results will be disseminated by presentations, publication and sharing of algorithms generated.

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MRI with diffusion-weighted imaging in children and young adults with simultaneous supra- and infratentorial manifestations of Sturge-Weber syndrome

Cited by 12 publications

References 24 publications

Focal White Matter Abnormalities Related to Neurocognitive Dysfunction: An Objective Diffusion Tensor Imaging Study of Children With Sturge-Weber Syndrome

Focal White Matter Abnormalities Related to Neurocognitive Dysfunction: An Objective Diffusion Tensor Imaging Study of Children With Sturge-Weber Syndrome

Updates and future horizons on the understanding, diagnosis, and treatment of Sturge–Weber syndrome brain involvement

Study protocol: retrospectively mining multisite clinical data to presymptomatically predict seizure onset for individual patients with Sturge-Weber

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