Sirolimus Treatment in Sturge-Weber Syndrome

Sebold, Alison J.; Day, Alyssa M.; Ewen, Joshua B.; Adamek, Jack H.; Byars, Anna W.; Cohen, Bernard A.; Kossoff, Eric H.; Mizuno, Tomoyuki; Ryan, Matthew; Sievers, Jacqueline W.; Smegal, Lindsay; Suskauer, Stacy J.; Thomas, Cameron; Vinks, Alexander A.; Zabel, T. Andrew; Hammill, Adrienne M.; Comi, Anne M.

doi:10.1016/j.pediatrneurol.2020.10.013

Cited by 41 publications

(31 citation statements)

References 56 publications

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“…Brain ailments can range from a small unilateral parietal–occipital focal area of the brain to extensive bilateral ailments. This results in a variety of symptoms, including seizures, mild learning problems, fine motor deficiencies, vision loss, hemiparesis, strokes that are mainly ischemic, and severe intellectual disability [ 62 , 68 ].…”

Section: Resultsmentioning

confidence: 99%

“…It is characterized by capillary–venous malformation of the brain, glaucoma, seizure, and neurological, ocular, and skin anomalies. Among the latter, port wine facial birthmarks stand out [ 62 , 63 , 64 , 65 , 66 ]. The etiology of this condition is attributed to somatic mutations that activate genes that encode heterodimeric G-protein chains, specifically the GNB2 gene, tha encodes the beta chain or the GNAQ and GNA11 genes that encode the alpha chain.…”

Section: Resultsmentioning

confidence: 99%

“…In infants, presymptomatic treatment with anticonvulsant medications and/or aspirin is promising in delaying the onset of seizures, while in patients with refractory epileptic syndromes, the use of neuromodulators, such as cannabidiol, has been suggested. If the location of the lesion is unilateral, hemispherectomy may be used [ 62 ]. There are other treatment approaches, such as modulation through bioactive compounds, that induce fibronectin expression or carbonic anhydrase enzyme and acetylcholinesterase, which focus on decreasing the severity of glaucoma.…”

Section: Resultsmentioning

confidence: 99%

“…The increasing complexity of therapeutic approaches to vascular malformations highlights the need to avoid confusing them with each other through correct characterization. Although clinical data may be useful in this process, such data are not entirely decisive, given that at a clinical level there may be silent courses, as in the cases of CCT [ 58 ] and small CAs [ 31 ] or clinical manifestations that are closely similar, such headaches and seizures that are present in most of the different vascular malformation cases [ 17 , 20 , 32 , 33 , 49 , 50 , 51 , 60 , 62 , 68 ]. An example of a fairly useful clinical feature is port wine stain in the case of SWS [ 63 , 64 , 65 ]; however, this syndrome will only occur in 8% to 33% of the subjects with the skin mark [ 70 ].…”

Section: Discussionmentioning

confidence: 99%

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Atlas of Nervous System Vascular Malformations: A Systematic Review

Rangel

Marín-Márquez²,

Hernández-Contreras³

et al. 2022

Life

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Vascular malformations are frequent in the head and neck region, affecting the nervous system. The wide range of therapeutic approaches demand the correct anatomical, morphological, and functional characterization of these lesions supported by imaging. Using a systematic search protocol in PubMed, Google Scholar, Ebsco, Redalyc, and SciELO, the authors extracted clinical studies, review articles, book chapters, and case reports that provided information about vascular cerebral malformations, in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A total of 385,614 articles were grouped; using the inclusion and exclusion criteria, three of the authors independently selected 51 articles about five vascular cerebral malformations: venous malformation, brain capillary telangiectasia, brain cavernous angiomas, arteriovenous malformation, and leptomeningeal angiomatosis as part of Sturge–Weber syndrome. We described the next topics—“definition”, “etiology”, “pathophysiology”, and “treatment”—with a focus on the relationship with the imaging approach. We concluded that the correct anatomical, morphological, and functional characterization of cerebral vascular malformations by means of various imaging studies is highly relevant in determining the therapeutic approach, and that new lines of therapeutic approaches continue to depend on the imaging evaluation of these lesions.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Atlas of Nervous System Vascular Malformations: A Systematic Review

Rangel

Marín-Márquez²,

Hernández-Contreras³

et al. 2022

Life

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“…Patients with these invasive brain interventions as well as patients with cognitive deficits or hyperactivity may need physiotherapy, educational therapy, and behavioral therapy. Some studies have shown oral treatment with rapamycin improves cognitive function and recovery time from stroke-like episodes ( Sebold et al, 2021 ). Larger clinical studies are required.…”

Section: Sturge-weber Syndromementioning

confidence: 99%

GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models

Trigt

Kelly

Hughes

2022

Front. Hum. Neurosci.

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Port-wine birthmarks (PWBs) are caused by somatic, mosaic mutations in the G protein guanine nucleotide binding protein alpha subunit q (GNAQ) and are characterized by the formation of dilated, dysfunctional blood vessels in the dermis, eyes, and/or brain. Cutaneous PWBs can be treated by current dermatologic therapy, like laser intervention, to lighten the lesions and diminish nodules that occur in the lesion. Involvement of the eyes and/or brain can result in serious complications and this variation is termed Sturge-Weber syndrome (SWS). Some of the biggest hurdles preventing development of new therapeutics are unanswered questions regarding disease biology and lack of models for drug screening. In this review, we discuss the current understanding of GNAQ signaling, the standard of care for patients, overlap with other GNAQ-associated or phenotypically similar diseases, as well as deficiencies in current in vivo and in vitro vascular malformation models.

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