Elsevier

Pediatric Neurology

Volume 58, May 2016, Pages 31-36
Pediatric Neurology

Original Article
Anticonvulsant Efficacy in Sturge-Weber Syndrome

https://doi.org/10.1016/j.pediatrneurol.2015.10.015Get rights and content

Abstract

Objective

We analyzed individuals with epilepsy due to Sturge-Weber syndrome to determine which anticonvulsants provided optimal seizure control and which resulted in the fewest side effects.

Methods

One-hundred-eight records from a single center were retrospectively analyzed for Sturge-Weber syndrome brain involvement, epilepsy, Sturge-Weber syndrome neuroscores, and currently used anticonvulsants.

Results

Of the fourteen anticonvulsants that had been employed, the most often used agents were oxcarbazepine or carbamazepine, and levetiracetam. Individuals whose seizures at the most recent visit were fully controlled (seizure-free) for 6 months or longer were more likely to have ever tried, or currently used, oxcarbazepine or carbamazepine than those with uncontrolled seizures. Thirty-nine of 69 individuals (56.5%) were seizure-free with oxcarbazepine or carbamazepine history versus 11 of 35 individuals (31.4%) who had not taken these agents (P < 0.05); 38 of 62 patients (61.3%) were seizure-free while currently taking these anticonvulsants versus 12 of 42 (28.6%) not taking them (P < 0.01). Patients with seizure control for 6 months or longer were less likely to have ever tried, or to currently be taking, levetiracetam than those without control. Sixteen of 56 individuals (28.6%) were seizure-free with levetiracetam history versus 34 of 48 (70.8%) without it (P < 0.001); 14 of 43 individuals (32.6%) were seizure-free and currently taking levetiracetam versus 36 of 61 (59.0%) not taking it (P < 0.01). When topiramate was added as second-line medication, five of nine patients (55.6%) experienced decreased seizure severity, and worsening of glaucoma was not reported.

Conclusions

Carbamazepine and oxcarbazepine were associated with better seizure control than levetiracetam in this Sturge-Weber syndrome cohort and so may be preferred as the initial therapy. When used as adjunctive therapy, topiramate was effective in this limited analysis without a clear increased incidence of glaucoma.

Introduction

Sturge-Weber syndrome (SWS) is caused by a somatic mutation in the gene GNAQ and characterized by vascular malformations.1 SWS can present with various characteristics depending on the location of the abnormal blood vessels, including facial port-wine birthmark, glaucoma, and brain involvement. Brain involvement with SWS is characterized by a leptomeningeal vascular malformation that is usually noted on contrast-enhanced magnetic resonance imaging by age one year. Brain involvement can lead to complications such as strokes and stroke-like episodes, cognitive impairment, migraines, and epilepsy.2 Epilepsy is present in about 72% of patients with unilateral SWS brain involvement, who make up the majority of SWS cases, but seizures are estimated to occur in 87%-92% of the smaller SWS population who have bilateral brain involvement.3, 4 Seizure onset commonly begins during the first year of life.5 About 45% of patients experience seizure clustering, characterized by individual prolonged seizures or many short seizures over a single day, with clusters separated by months or even years of seizure control.5 Intractable or prolonged seizures are associated with worse cognitive impairment and neurological injury.6, 7, 8, 9

Strokes and stroke-like episodes, seizures, and migraines can interact and trigger one another, leading to further neurological deterioration.10 Earlier seizure onset and greater extent of brain involvement are the most reliable predictors of poorer outcomes, but the majority of patients respond to anticonvulsant therapy.4 Because of this, anticonvulsants are the first-line treatment for SWS-related epilepsy.5, 10 Surgical treatments, such as focal cerebral resection or hemispherectomy, and special diets, such as the ketogenic or modified Atkins diet, are typically considered when anticonvulsant treatment fails.6, 11 A better understanding of patterns of anticonvulsant use and efficacy in SWS could help improve targeted treatment of seizures in this population. Currently, there is nearly nothing in the medical literature specific to SWS regarding which anticonvulsants may be particularly useful or conversely unsuitable for this population. Given the comorbidity between seizures and migraines in many patients with SWS, valproate or topiramate may be helpful in treating both, but this dual efficacy has not been studied in depth in these patients.2 We analyzed a large, single-center cohort to determine if any anticonvulsants appeared to be more helpful than others.

Section snippets

Participants and data collected

The Johns Hopkins Institutional Review Board approved this study to collect clinical data from consenting subjects for the research database at the Hunter Nelson Sturge-Weber Center at the Kennedy Krieger Institute. This database was retrospectively reviewed for patients with confirmed SWS brain involvement. Brain involvement was confirmed with typical findings on magnetic resonance imaging, including leptomeningeal vascular malformation, choroid plexus glomus, dilated deep draining vessels,

Demographics

One hundred thirty-five patients with confirmed SWS brain involvement who had consented to data collection were seen at the Hunter Nelson Sturge-Weber Center at the Kennedy Krieger Institute and Johns Hopkins Hospital. The earliest visit in the database for each subject took place between January 2006 and September 2013. All follow-up visits from March 2014 or earlier were included.

Of these 135 individuals, 108 subjects (80.0%) met our criteria for this analysis, including current use of one or

Discussion

Imaging studies have suggested that during seizures, insufficient blood flow to areas of SWS brain involvement can lead to ischemic events that may contribute to deterioration over time.7, 8 As the relationship between seizures and neurological deterioration in SWS becomes better understood, seizure control remains a priority for this population. Many individuals with SWS experience focal-onset seizures, and oxcarbazepine has been used as a first-line seizure medication in SWS and in other

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