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. 2024 Mar;2(1):60-72.
doi: 10.1002/cns3.20058. Epub 2024 Jan 10.

Retrospective Analysis of Presymptomatic Treatment In Sturge-Weber Syndrome

Chelsea B Valery  1 , Isabelle Iannotti  2 , Eric H Kossoff  3 , Andrew Zabel  4   5 , Bernard Cohen  6 , Yangming Ou  7 , Anna Pinto  2 , Anne M Comi  1   3
Affiliations

Retrospective Analysis of Presymptomatic Treatment In Sturge-Weber Syndrome

Chelsea B Valery et al. Ann Child Neurol Soc. 2024 Mar.

Abstract

Background: Ninety percent of infants with Sturge-Weber syndrome (SWS) brain involvement have seizure onset before 2 years of age; this is associated with worse neurologic outcome. Presymptomatic treatment before seizure onset may delay seizure onset and improve outcome, as has been shown in other conditions with a high-risk of developing epilepsy such as tuberous sclerosis complex. Electroencephalogram (EEG) may be a biomarker to predict seizure onset. This retrospective clinical data analysis aims to assess impact of presymptomatic treatment in SWS.

Methods: This two-centered, IRB-approved, retrospective study analyzed records from patients with SWS brain involvement. Clinical data recorded included demographics, age of seizure onset (if present), brain involvement extent (unilateral versus bilateral), port-wine birthmark (PWB) extent, family history of seizure, presymptomatic treatment if received, neuroscore, and anti-seizure medication. EEG reports prior to seizure onset were analyzed.

Results: Ninety-two patients were included (48 females), and 32 received presymptomatic treatment outside of a formal protocol (5 aspirin, 16 aspirin and levetiracetam; 9 aspirin and oxcarbazepine, 2 valproic acid). Presymptomatically-treated patients were more likely to be seizure-free at 2 years (15 of 32; 47% versus 7 of 60; 12%; p<.001). A greater percentage of presymptomatically-treated patients had bilateral brain involvement (38% treated versus 17% untreated; p=.026). Median hemiparesis neuroscore at 2 years was better in presymptomatically-treated patients. In EEG reports prior to seizure onset, the presence of slowing, epileptiform discharges, or EEG-identified seizures was associated with seizure onset by 2 (p=.001).

Conclusion: Presymptomatic treatment is a promising approach to children diagnosed with SWS prior to seizure onset. Further study is needed, including prospective drug trials, long-term neuropsychological outcome, and prospective EEG analysis to assess this approach and determine biomarkers for presymptomatic treatment.

Keywords: Sturge-Weber Syndrome; epilepsy; presymptomatic treatment; vascular malformation.

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Conflict of interest statement

Potential Conflicts of Interest: Anne Comi, Anna Pinto and Eric Kossoff are members of the ACNS editorial board.

Figures

Figure 1.
Figure 1.
Infant with SWS in panel A has a high-risk left-sided facial port-wine birthmark (PWB) covering the forehead, temple, and both eyelids. Magnetic Resonance Imaging (MRI) in panel B (neuroimaging from another subject) shows typical SWS right-sided leptomeningeal enhancement on axial post-contrast T2 Fluid-attenuated inversion recovery (FLAIR) MRI of the brain.
Figure 2.
Figure 2.
Flow chart depicts subjects eligible for this study, based on published protocol, including replacement of ineligible subjects. Upon in-depth record review, 16 of the originally planned subjects had to be replaced, due to a lack of SWS brain involvement or sufficient follow up. Those who were replaced were matched for sex, treatment, and extent of brain involvement.
Figure 3.
Figure 3.
Diagram shows the questions that this study focuses on answering and the relationship between clinical and diagnostic predictors, presymptomatic treatment, seizure onset, and neurological outcome.
Figure 4.
Figure 4.
Kaplan-Meier Survival Curves shows age of seizure onset data in the presymptomatic and standard treatment groups, with a follow-up duration of 2 years after birth (in days). At age 2, 45.2% of presymptomatically treated patients (bolded line) had not experienced seizure onset, while in the standard treatment group only 13.2% had no had seizure onset by two years of age.
Figure 5.
Figure 5.
Bar graph shows a significantly higher percentage of subjects with bilateral brain involvement in the presymptomatically treated group, as compared to subjects in the standard treatment group.
Figure 6.
Figure 6.
Box-plots for total SWS Neuroscore and hemiparesis sub-score at 2 years of age. In the presymptomatically treated group there is a trend for a lower total neuroscore and a significantly lower hemiparesis subscore (where lower scores indicate better neurologic function), when compared to the standard treatment group.
See this image and copyright information in PMC

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