Neurological presentations and cognitive outcome in Sturge-Weber syndrome

Powell, Sebastian; Fosi, Tangunu; Sloneem, Jenny; Hawkins, Christina; Richardson, Hanna; Aylett, Sarah

doi:10.1016/j.ejpn.2021.07.005

Cited by 22 publications

(35 citation statements)

References 43 publications

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“…12,18 In the current management, prophylaxis should be included because several studies have shown its importance to reducing the risk of cognitive impairment. 18,19 The m-Tor inhibitor agent sirolimus in combination with low-dose aspirin or phenobarbital has been successfully used. Medical management of seizures often has to be aggressive, and has included oxcarbazepine, because of a favorable rate of adverse effects reported, 4 in combination with carbamazepine or levetiracetam, particu-larly useful in patients with bilateral brain involvement; in cases when the patients have migraine-like headaches management could be complemented with valproic acid or topiramate.…”

Section: Discussionmentioning

confidence: 99%

“…Management should also include anti-aggregation, usually with acetyl salicylic acid in dose between 3 and 5 mg/kg/d, because it helps to control seizures by diminishing the blood stasis 12 and may help to avoid hemiparesis and stroke-like episodes. 16,20 Considering the complexity of the SWS, management should be addressed by a multidisciplinary team, 16,19,20 where a proper clinical approach by the emergency and Patient with normal birth and development, who presented complex focal seizures since he was 9 mo. Those seizures were managed and controlled with valproic acid and clobazam during his initial 3 y.…”

Section: Discussionmentioning

confidence: 99%

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Type III Sturge Weber Syndrome, An Uncommon Cause of Status Epilepticus

Coronado-Lopez

Coronado-Sarmiento

Urrego

et al. 2022

Journal of Pediatric Epilepsy

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Introduction Sturge Weber syndrome (SWS) is a rare neurocutaneous condition due to the mutation of the GNAQ gen. This condition is characterized by skin, eye, and brain compromise, but the type III only affects the brain, making it a challenging condition to diagnose. Clinical Case A Hispanic 4 year-old female, with a history of complex febrile seizure in her medical records, presented to the emergency room in status epilepticus after 24 hours of upper respiratory symptoms. After a neurological and radiologic evaluation, SWS III was diagnosed, which led to a pharmacological adjustment for achieving control of the seizures, with a great clinical evolution. Discussion The pathophysiology, diagnostics, and proper management of this disease are discussed. Conclusion SWS is a rare neurocutaneous disease, usually diagnosed in patients with pathognomonic features, however it is important to know that type III SWS exists and represents a challenging diagnosis, leading to a time-race for starting proper management, considering that the outcome includes a better life-quality, a higher cognitive result, and reduced morbimortality.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Type III Sturge Weber Syndrome, An Uncommon Cause of Status Epilepticus

Coronado-Lopez

Coronado-Sarmiento

Urrego

et al. 2022

Journal of Pediatric Epilepsy

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“…44 Earlier seizure onset was associated with intellectual and language disabilities; active epilepsy was associated with language disorder. Patients with PWB showed higher rates of intellectual disability and language disorder than patients without PWB, who had more favorable outcomes 45 ; this association may result from the mutation occurring later on in the fetal development in those without birthmark, which would result in fewer cell types affected. Absence of facial port-wine birthmark is associated with later age for seizure onset, which in turn is a predictor of cognitive and neurologic outcomes.…”

Section: Presentation Diagnosis and Symptoms Of Brain Involvementmentioning

confidence: 99%

Updates on Sturge-Weber Syndrome

Yeom

Comi

2022

Stroke

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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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“…15 In 75% of the patients, epilepsy manifests itself within the 1st year of life and more than 85% of all patients are affected by epilepsy by the age of 2 years. 3,4,10,34 Especially in infants, it can be challenging to detect seizure because in SWS seizures are mostly focal and not generalized. 5,6 First-line seizure treatment remains AED therapy.…”

Section: Seizure Control and Managementmentioning

confidence: 99%

“…However, especially in SWS, approximately 20%-25% of all patients develop drug-resistant epilepsy. 31,34 In cases of drug-resistant epilepsy, surgery should be considered, and early surgery should be pursued in order to reduce seizureinduced neuronal damage leading to cognitive decline and increase the chances of good postoperative neurological outcome. 16,29,[35][36][37] The decision for surgery is mostly based on the discussion and recommendation of a multidisciplinary team including pediatricians, pediatric neurosurgeons, pediatric neuroradiologists, and pediatric neurologists.…”

Section: Seizure Control and Managementmentioning

confidence: 99%

Focal lesionectomy as surgical treatment of epilepsy in patients with Sturge-Weber syndrome: a case-based systematic review and meta-analysis

Frank

Greuter

Dill

et al. 2022

Neurosurgical Focus

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OBJECTIVE Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder presenting mostly with a facial port-wine stain and leptomeningeal angiomatosis. More than 85% of the patients are affected by epilepsy by the age of 2 years. Seizure and symptom control is the focus of SWS treatment, since no causal therapy exists yet. For pharmacologically intractable epilepsy, surgery is a treatment option. The aim of this systematic review and meta-analysis was to provide an overview of the literature regarding lesionectomy in SWS with a focus on seizure outcome, complications, and motor and cognitive development. METHODS The PubMed and Embase databases were searched using a systematic search strategy to identify studies on SWS from their inception until 2021. Two independent researchers assessed the studies for inclusion and quality. Outcome measures were seizure outcome, postoperative complications, and motor and cognitive development. Thereafter, a systematic review was conducted, and a meta-analysis was performed for all included cohort studies. Risk of bias was assessed using the Newcastle-Ottawa Scale. Forest plots have been generated for all outcomes; risk ratio was used for pooled outcomes. A p value < 0.05 was considered as statistically significant. RESULTS After removal of duplicates, the authors screened 439 articles, of which 9 articles with 150 patients were included. Our case and 5 case reports and 4 retrospective cohort studies were included for systematic review. The latter 4 studies qualified for the meta-analysis. In these 4 articles, 144 patients received surgical treatment: 81 (56%) underwent focal lesionectomy and 63 (44%) hemispherectomy. Pooled outcome analysis for postoperative favorable seizure outcome showed a nonsignificant difference between lesionectomy and hemispherectomy (69.2% vs 87.3%; RR 0.73, 95% CI 0.50–1.08; t = −2.56, p = 0.08). Lesionectomy showed a significantly lower rate for developmental delay and postoperative hemiparesis in comparison with hemispherectomy (29.8% vs 76.3%; RR 0.41, 95% CI 0.28–0.59; z = −4.77, p < 0.0001 and 18.1% vs 100%; RR 0.11, 95% CI 0.06–0.21; z = −6.58, p < 0.0001, respectively). CONCLUSIONS Based on the limited literature available, lesionectomy leads to a nonsignificant lower seizure control rate, while postoperative developmental or motor deficits are significantly lower compared with hemispherectomy. Therefore, focal lesionectomy remains a valid alternative to hemispherectomy in SWS with a clearly localized epileptogenic area; however, individual case-based decisions in a specialized multidisciplinary team are of paramount importance.

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Neurological presentations and cognitive outcome in Sturge-Weber syndrome

Cited by 22 publications

References 43 publications

Type III Sturge Weber Syndrome, An Uncommon Cause of Status Epilepticus

Type III Sturge Weber Syndrome, An Uncommon Cause of Status Epilepticus

Updates on Sturge-Weber Syndrome

Focal lesionectomy as surgical treatment of epilepsy in patients with Sturge-Weber syndrome: a case-based systematic review and meta-analysis

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