Reliability and Clinical Correlation of Transcranial Doppler Ultrasound in Sturge-Weber Syndrome

Abstract

BACKGROUND The reproducibility of transcranial Doppler (TCD) ultrasound measurements in Sturge-Weber syndrome (SWS) and TCD’s ability to predict neurologic progression is unknown. METHODS In fourteen SWS patients, TCD measured mean flow velocity, pulsatility index, peak systolic velocity (PSV), and end diastolic velocity (EDV) in the middle (MCA), posterior (PCA) and anterior cerebral arteries (ACA) of the affected and unaffected hemisphere. TCD was performed either once (n=5) or twice in one day (n=9). We assessed the reproducibility of the measurements performed twice on the same day on subjects and compared the TCD measurements to previously published age-matched controls. Clinically obtained neuroimaging was scored for extent and severity of SWS brain involvement. Patients were prospectively assigned SWS neuroscores. RESULTS MCA velocity (r=0.79, p=0.04, n=7), PCA velocity (r=0.90, p=0.04, n=5), and ACA pulsatility index (r=0.82, p=0.02, n=7) were reproducible TCD measurements comparing same-day percent side-to-side differences. In subjects with SWS, affected and unaffected mean PSV and EDV velocities in the MCA, PCA, and ACA were globally lower compared to age-matched controls. Subjects with the lowest affected MCA velocity had the greatest worsening in total neurologic score between time 1 and 2 (r=−0.73, p=0.04, n=8) and the most severe MRI involvement of the affected frontal lobe (r=−0.82, p=0.007, n=9). CONCLUSIONS TCD is suggested as a reliable measure with potential clinical value, indicating blood flow may be globally decreased in SWS patients with unilateral brain involvement.

Avaliação dos Métodos de Neuroimagem na Síndrome de Sturge-Weber: Revisão Integrativa

“…O DTC é um procedimento vascular não invasivo que analisa a situação hemodinâmica cerebral, podendo medir a velocidade do fluxo nos vasos sanguíneos cerebrais (Jiménez-Legido et al, 2020;Offermann et al, 2017), e tem sido utilizado com sucesso em pacientes com doenças neurovasculares como na previsão da progressão neurológica da doença falciforme (Jiménez-Legido et al, 2020;Offermann et al, 2017). Foi observado que os pacientes com SSW tiveram uma menor velocidade de fluxo nas artérias cerebral média (ACM) e cerebral posterior (ACP), assim como maiores valores do índice de pulsabilidade da ACM no hemisfério afetado quando comparado ao não afetado.…”

“…Foi observado que os pacientes com SSW tiveram uma menor velocidade de fluxo nas artérias cerebral média (ACM) e cerebral posterior (ACP), assim como maiores valores do índice de pulsabilidade da ACM no hemisfério afetado quando comparado ao não afetado. O DTC é uma ferramenta promissora para monitorar o fluxo sanguíneo anormal na SSW e pode se provar um biomarcador útil para monitorar e predizer sua progressão neurológica (Offermann et al, 2017;Velásquez-Gallego et al, 2019), além de ter potencial para detectar o envolvimento leptomeníngeo antes de 1 ano e ajudar a determinar a efetividade do tratamento clínico (Jiménez-Legido et al, 2020).…”

Updates on Sturge-Weber Syndrome

“…Hemiparesis status predicted overall adaptive functioning level, while seizure frequency predicted intellectual functioning. 62 The SWS Neuroscore has been validated by EEG, quantitative EEG, and multiple neuroimaging measures including MRI and transcranial doppler 9,56,63 ; it has also been used in drug trials for Epidiolex and Sirolimus to assess changes in seizure, hemiparesis, visual field cut, and cognitive function. 11,12 Motor Assessments Motor impairments can be quantified and assessed in clinical trials in children with SWS using the modified Rankin Scale, Pediatric Evaluation of Disability Index, Modified House Functional Classification, and a modified version of the Erhardt Developmental Prehension Assessment.…”

“…Hemiparesis status predicted overall adaptive functioning level, while seizure frequency predicted intellectual functioning. 62 The SWS Neuroscore has been validated by EEG, quantitative EEG, and multiple neuroimaging measures including MRI and transcranial doppler 9,56,63 ; it has also been used in drug trials for Epidiolex and Sirolimus to assess changes in seizure, hemiparesis, visual field cut, and cognitive function. 11,12…”

“…While R183Q GNAQ mutation is commonly associated with SWS, 5 recent discoveries suggest that mutations in GNA11 and GNB2 are also related to SWS. 6,7 Quantitative electroencephalography (EEG) 8 and transcranial doppler 9 have recently been suggested to be possible biomarkers in aiding diagnosis and follow-up with SWS patients in clinical settings. More centers are implementing low-dose aspirin for reduction of stroke-like episodes and seizures in SWS patients.…”