Deep Venous Remodeling in Unilateral Sturge-Weber Syndrome: Robust Hemispheric Differences and Clinical Correlates

Juhász, Csaba; Luat, Aimee F.; Behen, Michael E.; Gjolaj, Nore; Jeong, Jeong‐Won; Chugani, Harry T.; Kumar, Ajay

doi:10.1016/j.pediatrneurol.2022.11.011

Cited by 3 publications

(10 citation statements)

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“…The development of these collaterals, and the enlargement and/or increase of these deep vessels, may stabilize blood flow, seizures, and cognitive deficits. 83,84 While more research in this area is necessary, this postnatal compensatory mechanism to increase drainage vessels likely requires time to happen. Therefore, it may be important to delay the onset of seizures and stroke-like episodes to allow time for these deep draining veins to develop.…”

Section: Role Of Neuroimaging In Clinical Care and Monitoringmentioning

confidence: 99%

“…Abnormal leptomeningeal vessels impair drainage, thereby increasing venous pressure and diverting blood into subcortical deep draining vessels. The development of these collaterals, and the enlargement and/or increase of these deep vessels, may stabilize blood flow, seizures, and cognitive deficits 83,84 . While more research in this area is necessary, this postnatal compensatory mechanism to increase drainage vessels likely requires time to happen.…”

Section: Role Of Neuroimaging In Clinical Care and Monitoringmentioning

confidence: 99%

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Sturge–Weber syndrome: Updates in pathogenesis, diagnosis, and treatment

Valery,

Comi

2023

Annals of the Child Neurology Society

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We summarize the current knowledge of Sturge–Weber syndrome (SWS) including genetic involvement, difficulties in diagnosis, symptoms caused by the vascular malformations, treatments, and future areas of research. PubMed searches were completed between October and December of 2022 including the following search terms: Sturge–Weber neuroimaging, Sturge–Weber ocular involvement, Sturge–Weber G‐protein alpha q subunit (GNAQ), Sturge–Weber presymptomatic treatment, and Sturge–Weber quantitative EEG. Clinically relevant articles and case reports were reviewed and summarized, with emphasis placed on reports from the last 20 years. Literature suggests that early identification of brain involvement is essential for optimal medical care. Infants with a port‐wine birthmark on the forehead, temple, or eyelids are at risk for SWS brain and eye involvement. Neuroimaging findings include leptomeningeal enhancements, cortical calcifications, and brain atrophy, and diagnosis requires magnetic resonance imaging with and without contrast. Before 1 year of age, neuroimaging has low sensitivity and may underestimate the extent of involvement; imaging after 1 year of age is needed to exclude brain involvement. The most common underlying cause for SWS is a somatic mosaic mutation in GNAQ. Neurological symptoms include seizures, stroke or stroke‐like episodes, headaches, and cognitive deficits. Recommended treatment for SWS brain involvement includes aggressive seizure control with antiepileptic medications; low‐dose aspirin is also frequently but not universally utilized. Current literature suggests that children with SWS may benefit from presymptomatic treatment; further study of this approach is ongoing. SWS is a rare neurovascular disorder usually signaled by a facial port‐wine birthmark. Early diagnosis and appropriate treatment may improve outcomes.

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Section: Role Of Neuroimaging In Clinical Care and Monitoringmentioning

confidence: 99%

Section: Role Of Neuroimaging In Clinical Care and Monitoringmentioning

confidence: 99%

Sturge–Weber syndrome: Updates in pathogenesis, diagnosis, and treatment

Valery,

Comi

2023

Annals of the Child Neurology Society

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“…MRI with susceptibility-weighted imaging (SWI) has been increasingly used for radiological diagnosis of SWS, partly due to its superior ability to detect small cerebral veins, including enlarged deep medullary veins (EDMVs) even without or before the LVM can be visualized ( 2 , 13 , 15 ). Recent studies have also demonstrated the post-natal evolution and expansion of these veins during the early SWS disease course, as detected by SWI ( 5 , 16 ), leading to EDMVs in the vast majority of patients with unilateral SWS ( 6 ). Curiously, extensive EDMVs appeared to be more frequent in right hemispheric SWS and more commonly present at a young age in those with right SWS as compared to left hemispheric brain involvement.…”

Section: Introductionmentioning

confidence: 99%

“…SWS brain involvement is unilateral in the majority of cases and includes venous abnormalities such as leptomeningeal venous malformations (LVMs) and enlarged deep medullary and subependymal veins ( 2 ). These latter are thought to develop as a result of the LVM-induced superficial venous flow insufficiency to provide collateral venous flow toward the deep venous system ( 3 - 6 ). Unless such collaterals provide adequate blood flow compensation, chronic venous congestion in affected cortex and subcortical white matter underlying the LVM can lead to brain atrophy and calcification ( 7 , 8 ).…”

Section: Introductionmentioning

confidence: 99%

“…Curiously, extensive EDMVs appeared to be more frequent in right hemispheric SWS and more commonly present at a young age in those with right SWS as compared to left hemispheric brain involvement. Also, a larger number of EDMVs, assessed by visual scoring, was associated with better seizure and cognitive outcomes in a subset of SWS patients ( 6 ). These data indicated that EDMVs may serve as an imaging marker of adaptive, venous vascular remodeling in SWS.…”

Section: Introductionmentioning

confidence: 99%

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Quantification of enlarged deep medullary vein volumes in Sturge-Weber syndrome

Jeong,

Lee,

Luat

et al. 2024

Quant Imaging Med Surg

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Background Enlarged deep medullary veins (EDMVs) in patients with Sturge-Weber syndrome (SWS) may channel venous blood from the surface to the deep vein system in brain regions affected by the leptomeningeal venous malformation. Thus, the quantification of EDMV volume may provide an objective imaging marker for this vascular compensatory process. The present study proposes a novel analytical method to quantify enlarged EDMV volumes in the affected hemisphere of patients with unilateral SWS. Methods Twenty young subjects, including 10 patients with unilateral SWS and 10 healthy siblings (age 14.5±6.7 and 16.0±7.0 years, respectively) underwent 3T brain MRI scanning using susceptibility-weighted imaging (SWI) and volumetric T1-weighted sequences. The proposed image analytic steps segmented EDMVs in white matter regions, defined on the volumetric T1-weighted images, by statistically associating the likelihood of intensity, location, and tubular shape on SWI. The volumes of the segmented EDMVs, calculated in each hemisphere, were compared between affected and unaffected hemispheres. EDMV volumes were also correlated with visually assessed EDMV scores, hemispheric white matter volumes, and cortical surface areas. Parametric tests including Pearson’s correlation, unpaired and paired t-tests, were used. A P value <0.05 was considered statistically significant. Results It was found that EDMVs were identified well in SWS-affected hemispheres while calcified regions were excluded. Mean EDMV volumes in the SWS-affected hemispheres were 10–12-fold greater than in the unaffected or healthy control hemispheres; while white matter volumes and cortical surface areas were lower. EDMV volumes in the SWS-affected hemispheres showed a strong positive correlation with the visual EDMV scores (r=0.88, P=0.001) and an inverse correlation with cortical surface area ratios (r=−0.65, P=0.04) but no correlation with white matter volume ratios. Conclusions EDMVs were detected in the SWS-affected atrophic hemispheres reliably while avoiding calcified regions. The approach can be used to quantify enlarged deep cerebral veins in the human brain, which may provide a potential marker of cerebral venous remodeling.

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Feasibility and Potential Diagnostic Value of Noncontrast Brain MRI in Nonsedated Children With Sturge-Weber Syndrome and Healthy Siblings

Juhász,

Behen,

Gjolaj

et al. 2024

J Child Neurol

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Background Postcontrast magnetic resonance imaging (MRI), obtained under anesthesia, is often used to evaluate brain parenchymal and vascular abnormalities in young children, including those with Sturge-Weber syndrome. However, anesthesia and contrast administration may carry risks. We explored the feasibility and potential diagnostic value of a noncontrast, nonsedate MRI acquisition in Sturge-Weber syndrome children and their siblings with a wide range of cognitive and behavioral functioning. Methods Twenty children (10 with Sturge-Weber syndrome and 10 healthy siblings; age: 0.7-13.5 years) underwent nonsedate 3-tesla (T) brain MRI acquisition with noncontrast sequences (including susceptibility-weighted imaging) prospectively along with neuropsychology assessment. All images were evaluated for quality, and MRI abnormalities identified in the Sturge-Weber syndrome group were compared to those identified on previous clinical pre- and postcontrast MRI. Results Nineteen participants (95%) completed the MRI with good (n = 18) or adequate (n = 1) quality, including all children with Sturge-Weber syndrome and all 5 children ≤5 years of age. The Sturge-Weber syndrome group had lower cognitive functions than the controls, and both groups had several children with behavioral issues, without an apparent effect on the success and quality of the MR images. Susceptibility-weighted imaging detected key venous vascular abnormalities and calcifications and, along with the other noncontrast sequences, provided diagnostic information comparable to previous clinical MRI performed with contrast administration under anesthesia. Conclusion This study demonstrates the feasibility and the potential diagnostic value of a nonsedate, noncontrast MRI acquisition protocol in young children including those with cognitive impairment and/or behavioral concerns. This approach can facilitate clinical trials in children where safe serial MRI is warranted.

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Deep Venous Remodeling in Unilateral Sturge-Weber Syndrome: Robust Hemispheric Differences and Clinical Correlates

Cited by 3 publications

References 32 publications

Sturge–Weber syndrome: Updates in pathogenesis, diagnosis, and treatment

Sturge–Weber syndrome: Updates in pathogenesis, diagnosis, and treatment

Quantification of enlarged deep medullary vein volumes in Sturge-Weber syndrome

Feasibility and Potential Diagnostic Value of Noncontrast Brain MRI in Nonsedated Children With Sturge-Weber Syndrome and Healthy Siblings

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