Sturge-Weber Syndrome

Bachur, Catherine; Comi, Anne M.

doi:10.1007/s11940-013-0253-6

Cited by 52 publications

(47 citation statements)

References 55 publications

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“…14,15 More recently, levetiracetam has become more common as a first-line treatment in SWS, and is sometimes used in conjunction with oxcarbazepine. 2,10 Both oxcarbazepine or carbamazepine and levetiracetam were commonly used both alone and in combination in this study population. Oxcarbazepine or carbamazepine was associated with better seizure control in multiple analyses when compared both with subjects not using those drugs and with subjects using levetiracetam.…”

Section: Discussionmentioning

confidence: 96%

“…However, the finding that over 30% of subjects with higher (worse) seizure scores were also using monotherapy was more surprising given that failure of a single drug would not be a stopping point for anticonvulsant treatment. 10 These usage distributions were captured at the most recent visit available, so it is possible that these subjects experiencing seizures on monotherapy were in the middle of a treatment transition at the time of the visit.…”

Section: Discussionmentioning

confidence: 99%

“…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.…”

Section: Introductionmentioning

confidence: 99%

“…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.…”

Section: Introductionmentioning

confidence: 99%

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Anticonvulsant Efficacy in Sturge-Weber Syndrome

Kaplan

Kossoff

Bachur

et al. 2016

Pediatric Neurology

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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.

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Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Anticonvulsant Efficacy in Sturge-Weber Syndrome

Kaplan

Kossoff

Bachur

et al. 2016

Pediatric Neurology

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“…6 The available treatment literature reviewed is primarily clinical cohort series; there are results from a few anonymous surveys. There have not been any randomized, placebo-controlled drug trials yet for Sturge-Weber syndrome.…”

Section: Introductionmentioning

confidence: 99%

Current Therapeutic Options in Sturge-Weber Syndrome

Comi

2015

Seminars in Pediatric Neurology

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Sturge-Weber syndrome is a vascular malformation syndrome consisting of a facial port-wine birthmark associated with malformed leptomeningeal blood vessels and a choroid “angioma” of the eye. It is a rare neurocutaneous disorder that occurs sporadically, is not inherited, and is caused by a somatic mosaic mutation in GNAQ. In patients with Sturge-Weber syndrome, brain involvement typically presents in infancy with seizures, strokes, and stroke-like episodes, and a range of neurologic impairments. Standard treatment includes laser therapy for the birthmark, control of glaucoma through eyedrops or surgery, and the use of anticonvulsants. Increasingly low-dose aspirin is offered. Treatment with propranolol has been tried generally without the dramatic results seen in hemangiomas. Treatment with an anticonvulsant or low-dose aspirin or both before the onset of seizures is an option. Surgical resection may be offered to those whose seizures are medically refractory. Endocrine, medical rehabilitation and cognitive comorbidities are important to manage. In the future, new therapeutic options are likely to be offered stemming from preclinical studies and small pilot clinical trials currently ongoing. Discovery of the causative somatic mosaic mutation suggests new insights into the pathophysiology of this vascular malformation disorder, and potential novel treatment strategies for future study. The mutation results in constitutive overactivation of the Ras-Raf-MEK-ERK and the HIPPO-YAP pathways and inhibitors of these pathways may in the future prove useful in the treatment of Sturge-Weber syndrome.

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Mosaic Disorders of Pigmentation

Kinsler

2019

Harper's Textbook of Pediatric Dermatology

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Sturge-Weber Syndrome

Cited by 52 publications

References 55 publications

Anticonvulsant Efficacy in Sturge-Weber Syndrome

Anticonvulsant Efficacy in Sturge-Weber Syndrome

Current Therapeutic Options in Sturge-Weber Syndrome

Mosaic Disorders of Pigmentation

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