Study protocol: retrospectively mining multisite clinical data to presymptomatically predict seizure onset for individual patients with Sturge-Weber

Vedmurthy, Pooja; Pinto, Anna; Lin, Doris; Comi, Anne M.; Ou, Yangming

doi:10.1136/bmjopen-2021-053103

Cited by 4 publications

(14 citation statements)

References 143 publications

(272 reference statements)

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“…Anomalias venosas, como malformações leptomeníngeas e alargamento de veias medulares profundas e ependimárias, são melhor vistas em T1 contrastada e SWI (Jagtap et al, 2013;Planche et al, 2014;Vedmurthy et al, 2022). Podem ser observadas como realce serpiginoso em T1 pós-contraste ou áreas serpiginosas escuras ao longo dos sulcos em SWI, alargamento assimétrico dos plexos coroides em T1 pré e pós-contraste (Bar et al, 2020;Catsman-Berrevoets et al, 2022) e alargamento assimétrico do seio cavernoso (Pasquini et al, 2019).…”

Section: Ressonância Nuclear Magnéticaunclassified

“…A Síndrome de Sturge-Weber (SSW), também conhecida como angiomatose encefalotrigeminal, é uma facomatose esporádica, não-hereditária, com incidência estimada em 1 a cada 20.000-50.000 nascidos vivos (Cremé-Lambert et al, 2020;Jiménez-Legido et al, 2020;Kasasbeh et al, 2020;Vedmurthy et al, 2022). Sua forma típica está relacionada à presença de Mancha Vinho do Porto (MVP) facial e pode levar a acometimento da drenagem venosa cerebral e ocular (Sarti et al, 2019;Velásquez-Gallego et al, 2019).…”

Section: Introductionunclassified

“…O gene codifica a subunidade alfa de proteínas G heterotriméricas (Gαq) que são trifosfatases de guanosina (GTPases) e transmitem a sinalização dos receptores acoplados à proteína G transmembrana que são importantes na função de vários fatores de crescimento, peptídeos vasoativos (como a endotelina) e neurotransmissores. A mutação afeta a atividade da GTPase e mantém a Gαq ativa unida à GTP, hiperativando as vias posteriores que incluem RAS-MEK-ERK, HIPPO-YAP, 5e e mTOR (Cremé-Lambert et al, 2020;Vedmurthy et al, 2022;Velásquez-Gallego et al, 2019). A angiomatose então se desenvolve secundariamente à falha de regressão e maturação do plexo venoso cefálico no primeiro trimestre do desenvolvimento (Kasasbeh et al, 2020).…”

Section: Introductionunclassified

“…A cefaleia geralmente apresenta características de migrânea, aparece em idades mais precoces que na população geral e pode vir acompanhada de aura prolongada e déficits neurológicos (de la Torre et al, 2018;Velásquez-Gallego et al, 2019). O prejuízo intelectual aparece como atraso do desenvolvimento, baixo QI e dificuldade com habilidades sociocomportamentais, havendo maior prevalência de TDAH (40%), TOD, depressão, ansiedade e sintomas psicóticos (Cremé-Lambert et al, 2020;de la Torre et al, 2018;Vedmurthy et al, 2022;Velásquez-Gallego et al, 2019).…”

Section: Introductionunclassified

“…O aparecimento de crises epilépticas antes dos 2 anos de idade é considerado um marco prognóstico (Vedmurthy et al, 2022). Quando não tratada adequadamente, tende a se tornar refratária e provocar deterioração motora e atraso grave da linguagem (Velásquez-Gallego et al, 2019).…”

Section: Introductionunclassified

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Avaliação dos Métodos de Neuroimagem na Síndrome de Sturge-Weber: Revisão Integrativa

Santos

Abritta

2023

RSD

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A Síndrome de Sturge-Weber é uma facomatose com incidência de 1:20.000-50.000 nascidos vivos e está relacionada à presença de Mancha Vinho do Porto facial. Alterações vasculares geradas pela mutação do gene GNAQ causam o acometimento cutâneo, cerebral e ocular. Tem como principal sintoma neurológico o aparecimento de epilepsia, que geralmente ocorre antes dos 2 anos de idade. As crises epilépticas podem ser de difícil controle e estão associadas a hemiparesia, prejuízo intelectual e alterações de comportamento, principalmente quando estas se iniciam antes dos 6 meses de idade. Essa é uma revisão integrativa que objetiva analisar a literatura quanto aos métodos de neuroimagem indicados atualmente para o diagnóstico do angioma leptomeníngeo em crianças com fatores de risco para a síndrome. Foram selecionados 34 artigos dentre os encontrados nas bases de dados MEDLINE e LILACS. A partir deles constatou-se que a RNM continua sendo o exame de escolha para diagnóstico inicial, enquanto a TC não tem indicação nesse momento e deve ser reservada para emergências. Os estudos funcionais são preferíveis na avaliação cirúrgica e os métodos ultrassonográficos se mostram promissores na indisponibilidade de outros métodos e para acompanhamento do tratamento medicamentoso.

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Section: Ressonância Nuclear Magnéticaunclassified

Section: Introductionunclassified

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Avaliação dos Métodos de Neuroimagem na Síndrome de Sturge-Weber: Revisão Integrativa

Santos

Abritta

2023

RSD

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Sturge–Weber syndrome: Updates in pathogenesis, diagnosis, and treatment

Valery,

Comi

2023

Annals of the Child Neurology Society

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We summarize the current knowledge of Sturge–Weber syndrome (SWS) including genetic involvement, difficulties in diagnosis, symptoms caused by the vascular malformations, treatments, and future areas of research. PubMed searches were completed between October and December of 2022 including the following search terms: Sturge–Weber neuroimaging, Sturge–Weber ocular involvement, Sturge–Weber G‐protein alpha q subunit (GNAQ), Sturge–Weber presymptomatic treatment, and Sturge–Weber quantitative EEG. Clinically relevant articles and case reports were reviewed and summarized, with emphasis placed on reports from the last 20 years. Literature suggests that early identification of brain involvement is essential for optimal medical care. Infants with a port‐wine birthmark on the forehead, temple, or eyelids are at risk for SWS brain and eye involvement. Neuroimaging findings include leptomeningeal enhancements, cortical calcifications, and brain atrophy, and diagnosis requires magnetic resonance imaging with and without contrast. Before 1 year of age, neuroimaging has low sensitivity and may underestimate the extent of involvement; imaging after 1 year of age is needed to exclude brain involvement. The most common underlying cause for SWS is a somatic mosaic mutation in GNAQ. Neurological symptoms include seizures, stroke or stroke‐like episodes, headaches, and cognitive deficits. Recommended treatment for SWS brain involvement includes aggressive seizure control with antiepileptic medications; low‐dose aspirin is also frequently but not universally utilized. Current literature suggests that children with SWS may benefit from presymptomatic treatment; further study of this approach is ongoing. SWS is a rare neurovascular disorder usually signaled by a facial port‐wine birthmark. Early diagnosis and appropriate treatment may improve outcomes.

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Retrospective analysis of presymptomatic treatment in Sturge–Weber syndrome

Valery,

Iannotti,

Kossoff

et al. 2024

Annals of the Child Neurology Society

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BackgroundNinety percent of infants with Sturge–Weber syndrome (SWS) brain involvement have seizure onset before 2 years of age; early‐onset seizures are associated with worse neurological outcome. Presymptomatic treatment before seizure onset may delay seizure onset and improve outcome, as has been shown in other conditions with a high risk of developing epilepsy, such as tuberous sclerosis complex. The electroencephalogram (EEG) may be a biomarker to predict seizure onset. This retrospective clinical data analysis aims to assess the impact of presymptomatic treatment in SWS.MethodsThis two‐center, Institutional Review Board–approved, retrospective study analyzed records from patients with SWS brain involvement. Clinical data recorded included demographics, age of seizure onset (if present), brain involvement extent (unilateral versus bilateral), port‐wine birthmark (PWB) extent, family history of seizures, presymptomatic treatment if received, Neuroscore, and antiseizure medications. EEG reports prior to seizure onset were analyzed.ResultsNinety‐two patients were included (48 females), and 32 received presymptomatic treatment outside of a formal protocol (five aspirin, 16 aspirin and levetiracetam; nine aspirin and oxcarbazepine, two valproic acid). Presymptomatically treated patients were more likely to be seizure‐free at 2 years (15 of 32, 47% versus 7 of 60, 12%; p < 0.001). A greater percentage of presymptomatically treated patients had bilateral brain involvement (38% treated versus 17% untreated; p = 0.026). Median hemiparesis Neuroscore at 2 years was better in presymptomatically treated patients. In EEG reports prior to seizure onset, the presence of slowing, epileptiform discharges, or EEG‐identified seizures was associated with seizure onset by 2 years (p = 0.001).ConclusionPresymptomatic treatment is a promising approach to children diagnosed with SWS prior to seizure onset. Further study is needed, including prospective drug trials, long‐term neuropsychological outcome, and prospective EEG analysis, to assess this approach and determine biomarkers for presymptomatic treatment.

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Study protocol: retrospectively mining multisite clinical data to presymptomatically predict seizure onset for individual patients with Sturge-Weber

Cited by 4 publications

References 143 publications

Avaliação dos Métodos de Neuroimagem na Síndrome de Sturge-Weber: Revisão Integrativa

Avaliação dos Métodos de Neuroimagem na Síndrome de Sturge-Weber: Revisão Integrativa

Sturge–Weber syndrome: Updates in pathogenesis, diagnosis, and treatment

Retrospective analysis of presymptomatic treatment in Sturge–Weber syndrome

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