Extent of Leptomeningeal Capillary Malformation is Associated With Severity of Epilepsy in Sturge-Weber Syndrome

Abstract

Background: Individuals with Sturge-Weber syndrome (SWS) often expereince intractable epilepsy and cognitive decline. We hypothesized that the extent of the leptomeningeal capillary malformation (LCM) may correlate with the severity of neurological impairment due to SWS. We tested the hypothesis in a cross-sectional study of seizure severity and electroencephalographic (EEG) findings and a retrospective cohort study for surgical indications related to the extent of the LCM. Methods: We enrolled 112 patients and classified them according to LCM distribution: (1) bilateral, (2) hemispheric, (3) multilobar, and (4) single lobe. Age at seizure onset, seizure semiology and frequency, and EEG findings were compared. Surgical indications were evaluated for each group by Fisher exact test, and predictors for surgery were evaluated by univariate and multivariate analyses. Therapeutic efficacy was evaluated by the SWS-Neurological Score (SWS-NS). Results: The bilateral and hemispheric groups had early seizure onset (4.0 months old and 3.0 months old), frequent seizures (88.9% and 80.6% had more than one per month), focal-to-bilateral tonic-clonic seizures (88.9% and 74.2%), and status epilepticus (100% and 87.1%). The groups' EEG findings did not differ substantially. Surgical indications were present in 77.8% of the bilateral, 88.1% of the hemispheric, and 46.8% of the multilobar groups. Seizure more than once per month was a predictor of surgical treatment. Seizure subscore improved postoperatively in the hemispheric and multilobar groups. Even after surgical treatment, the bilateral and hemispheric groups exhibited higher SWS-NSs than members of the other groups. Conclusion: Our study demonstrated a strong association between extensive LCM and epilepsy severity. Surgical intervention improved seizure outcome in patients with SWS with large LCMs.

Retrospective analysis of presymptomatic treatment in Sturge–Weber syndrome

“…Model estimates suggested that standard postsymptomatically treated patients were 9.24 times more likely to have seizure onset by 2 years (p < 0.001, 95% CI: 2.74-31. 19). In this regression model, females were 3.67 times more likely to have seizure onset by 2 years (p = 0.029, 95% CI: 1.139-11.834).…”

“…18 A greater extent of brain involvement has been associated with an earlier age of seizure onset and worse seizure severity. [16][17][18][19][20] Early seizure onset has been associated with lower IQ, increased hemiparesis severity, increased seizure activity, worse brain injury, and cognitive decline. 13,[21][22][23][24][25][26] In a study of 33 young children with SWS, lower IQ was associated with younger age of seizure onset.…”

“…Most infants with SWS brain involvement experience seizures by 2 years of age, and seizure onset by age 2 years is a key milestone in the clinical course of SWS 18 . A greater extent of brain involvement has been associated with an earlier age of seizure onset and worse seizure severity 16–20 . Early seizure onset has been associated with lower IQ, increased hemiparesis severity, increased seizure activity, worse brain injury, and cognitive decline 13,21–26 .…”

An Update on Multimodal Ophthalmological Imaging of Diffuse Choroidal Hemangioma in Sturge–Weber Syndrome

“…It is imperative to manage and control seizures early on to prevent cognitive setbacks. [ 10 , 11 ]. SWS patients rarely have intracranial hemorrhages, and there is little evidence of acute cerebral ischemia [ 12 ].…”