Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome

Smegal, Lindsay; Sebold, Alison J.; Hammill, Adrienne; Juhász, Csaba; Lo, Warren; Miles, Daniel; Wilfong, Angus A.; Levin, Alex V.; Fisher, Brian; Ball, Karen L.; Pinto, Anna; Comi, Anne M.; Koenig, Jim; Lawton, Michael T.; Marchuk, Douglas A.; Moses, Marsha A.; Freedman, Sharon F.; Pevsner, Jonathan

doi:10.1016/j.pediatrneurol.2021.02.006

Cited by 13 publications

(23 citation statements)

References 30 publications

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“…1,6 These patients can benefit from daily aspirin to prevent thrombosis in low-flow angioma. 7 Most of the cases are diagnosed before 12 years. 8 Our patient is unique as he had type III SWS with isolated pial angiomatosis diagnosed in his sixth decade.…”

Section: Discussionmentioning

confidence: 99%

“…When the seizures remain drug-resistant, patients should be offered surgical options and appropriate investigations to assess for surgical candidacy. 7,9 To this date, several surgical options, such as lobectomy and hemispherectomy, as well as palliative corpus callosotomy, have been used and proven to be beneficial. 7,9,11 VNS is a palliative option reserved for patients with drug-resistant epilepsy for whom epilepsy surgery is not feasible.…”

Section: Discussionmentioning

confidence: 99%

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Clinical Reasoning: Drug Resistant Epilepsy in a 61-Year-Old Man With Abnormal MRI Brain Findings and Management With Vagal Nerve Stimulator

Mankad¹,

Lavingia

2023

Neurology

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A 66-year-old man with seizures that started at 61 years eventually developed drug-resistant epilepsy and was managed with medications and vagal nerve stimulation. The patient had a convulsive event at age 61, followed by recurrent events of confusion and speech arrest lasting 30-120 seconds. He underwent gadolinium enhanced MRI brain and angiogram which revealed pial enhancement in the right occipital, parietal, and posterior temporal regions with subcortical atrophy. CSF findings were unremarkable. Continuous video EEG showed electroclinical correlation for his episodes of confusion and speech arrest with recurrent brief runs of rhythmic delta from the right temporal region with evolution and spread to the entire right hemisphere. The patient tried multiple antiseizure medications including valproic acid, topiramate, phenytoin, carbamazepine, levetiracetam, brivaracetam, lamotrigine without success. He was eventually put on a combination of lacosamide, zonisamide, clonazepam, and primidone, which helped to certain extent, but the patient continued to have daily episodes and 10-12 electroclinical seizures noted on a follow-up 24-hour ambulatory EEG. Follow-up MRI brain with contrast confirmed the diagnosis. Phase II intracranial monitoring for surgical management was offered to the patient which he deferred due to risks. Vagal nerve stimulator (VNS) was also offered as a palliative therapy to which the patient agreed. Gradual titration of VNS settings over 1 year helped to achieve seizure freedom. Presentation of focal seizure with this type of atypical etiology is rare. Typically surgical management is used to achieve seizure freedom in this condition; successful management with VNS has not been reported so far.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Clinical Reasoning: Drug Resistant Epilepsy in a 61-Year-Old Man With Abnormal MRI Brain Findings and Management With Vagal Nerve Stimulator

Mankad¹,

Lavingia

2023

Neurology

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“…In this study, the presence of family history of seizures, bilateral brain involvement, and no anti-epileptic medication use was associated with a higher incidence of neurosurgery. 110 It is currently advisable to warn parents and caregivers about the risk of seizure clusters and to encourage the development of individualized emergency plans that include the use of rescue benzodiazepine therapy. Some providers recommend the use of intermittent benzodiazepine therapy during febrile illnesses.…”

Section: Other Treatmentsmentioning

confidence: 99%

Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache

Sanchez-Espino¹,

Ivars²,

Antoñanzas³

et al. 2023

TACG

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Sturge-Weber syndrome (SWS) is a congenital, sporadic, and rare neurocutaneous disorder, characterized by the presence of a facial port-wine birthmark (PWB), glaucoma, and neurological manifestations including leptomeningeal angiomatosis and seizures. It is caused by a postzygotic, somatic, gain-of-function variant of the GNAQ gene, and more recently, the GNA11 gene in association with distinctive clinical features. Neuroimaging can help identify and stratify patients at risk for significant complications allowing closer follow-up; although no presymptomatic treatment has been demonstrated to be effective to date, these patients could benefit from early treatment and/or supportive interventions. Choroid plexus (CP) thickness measurements in brain magnetic resonance imaging (MRI) have a high sensitivity and specificity for early and incipient changes in SWS. In contrast, the absence of pathologic findings makes it possible to rule out associated neurological involvement and leads to periodical observation, with new imaging studies only in cases of new clinical signs/symptoms. Periodic ophthalmological examination is also recommended every 3 months during the first year and yearly afterwards to monitor for glaucoma and choroidal hemangiomas. Treatment for SWS depends on the extent and areas that are affected. These include laser surgery for PWB, anticonvulsants in the case of brain involvement, with either seizures or abnormal EEG, and medical treatment or surgery for glaucoma. Sirolimus has been used in a limited number of patients and appears to be a safe and potentially effective treatment for cutaneous and extra-cutaneous features, however controlled clinical studies have not been carried out. Better knowledge of GNAQ/GNA11 molecular pathways will help to develop future targeted treatments.

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“…Use of low-dose aspirin is growing internationally in patients with SWS, particularly in centers who see larger numbers of these patient; a recent multicentered study indicated that aspirin use is common. 10 However, use of low-dose aspirin is not universal. Anecdotally bleeding can be a concern, patients with SWS rarely can developed a subdural hematoma, presumably due to hemispheric atrophy and tearing of bridging veins.…”

Section: Treatmentmentioning

confidence: 99%

“…More centers are implementing low-dose aspirin for reduction of stroke-like episodes and seizures in SWS patients. 10 Also, in the last few years, oral drug trials for SWS have shown promising results in the treatment of stroke and stroke-like episodes, seizure management, and cognitive improvements. 11,12 The purpose of this review is to summarize recent updates in the field of SWS research important in the treatment of patients with SWS, and to lay the foundation for future multicentered drug trials aimed at preventing stroke injury and preserving neurologic function in SWS.…”

mentioning

confidence: 99%

Updates on Sturge-Weber Syndrome

Yeom

Comi

2022

Stroke

Self Cite

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Sturge-Weber syndrome (SWS) is a rare, noninherited neurovascular disorder characterized by abnormal vasculature in the brain, skin, and eye. Patients with SWS characteristically have facial capillary malformation, also known as port-wine birthmark, a leptomeningeal vascular malformation seen on contrast-enhanced magnetic resonance imaging images, abnormal blood vessels in the eye, and glaucoma. Patients with SWS have impaired perfusion to the brain and are at high risk of venous stroke and stroke-like episodes, seizures, and both motor and cognitive difficulties. While the activating R183Q GNAQ somatic mutation is the most common somatic mutation underlying SWS, recent research also implicates that GNA11 and GNB2 somatic mutations are related to SWS. Recent retrospective studies suggest the use of low-dose aspirin and vitamin D in treatment for SWS and prospective drug trials have supported the usefulness of cannabidiol and Sirolimus. Presymptomatic treatment with low-dose aspirin and antiepileptic drugs shows promising results in delaying seizure onset in some patients. This review focuses on the latest progress in the field of research for Sturge-Weber syndrome and highlights directions for future research.

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Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome

Cited by 13 publications

References 30 publications

Clinical Reasoning: Drug Resistant Epilepsy in a 61-Year-Old Man With Abnormal MRI Brain Findings and Management With Vagal Nerve Stimulator

Clinical Reasoning: Drug Resistant Epilepsy in a 61-Year-Old Man With Abnormal MRI Brain Findings and Management With Vagal Nerve Stimulator

Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache

Updates on Sturge-Weber Syndrome

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