Incidence of Sturge–Weber syndrome and associated ocular involvement in Olmsted County, Minnesota, United States

Rihani, Heba T.; Dalvin, Lauren A; Hodge, David O.; Pulido, José S.

doi:10.1080/13816810.2020.1731834

Cited by 15 publications

(18 citation statements)

References 51 publications

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“…2 In a recent population-based study, Rihani et al showed that the incidence rate of patients with SWS was 0.19/100,000/year with a female predominance (69%) [male (31%)]. 6 In the present series, two males and one female with SWS were studied. The family history of SWS or any genetic disease in the family was not reported in our series.…”

Section: Discussionmentioning

confidence: 69%

“…2 The exact incidence of SWS has not been studied in the literature. 6 The frequency of SWS is estimated to be 1 in 2000 to 1 in 50,000. 2 In a recent population-based study, Rihani et al showed that the incidence rate of patients with SWS was 0.19/100,000/year with a female predominance (69%) [male (31%)].…”

Section: Discussionmentioning

confidence: 99%

“…5 Abnormal vascular malformations have been seen in various sites in the eye and ipsilateral to a facial PWB. 6 Glaucoma is the most frequent ocular manifestation reported in the literature (30% 5 to 74.5 % 12 ) and develops from birth to adulthood (40%). 3 A diffuse choroidal hemangioma is seen as 33% SWS and causes vision loss.…”

Section: Discussionmentioning

confidence: 99%

“…2 The other common ocular conditions are dilated episcleral vessels, buphthalmos, megalocornea and retinal detachment. 6 Intellectual disability (50%), and hemiparesis (30%) commonly occur as neurological complications of SWS. 5 In the present series, all SWS (n=3) have been suffering from mental retardation.…”

Section: Discussionmentioning

confidence: 99%

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Sturge-Weber syndrome: Clinico-neuroradiological features and treatment profile

Chatterjee

Sinha

2021

Nep J Neurosci

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Introduction: Sturge Weber syndrome (SWS) is a rare, nonhereditary genetic disorder. SWS belongs to a diverse group of Neurocutaneous disorders. A somatic mutation in the early development of cells in SWS patients causes the formation of a congenital capillary vascular malformation. SWS is characterized by nevus flammeus on the face (also called Port-Wine Birthmark), brain (leptomeningeal angioma), and eyes (glaucoma). Methods and Materials: We present three patients diagnosed with Sturge Weber syndrome who attended a teaching hospital between 2013 to 2016. The clinical, neuroradiological features and treatment of SWS patients were reviewed retrospectively from medical records. Results: Two males and females with SWS were reviewed. The facial nevus flammeus was unilateral in one patient and bilateral in two patients. The extensive nevus flammeus including the face, trunk, and upper limb was found in one patient. Epilepsy, neurodevelopmental delay, and intellectual disability were the most common presentation in the series. Episodic hemiparesis was manifested in one patient. Levetiracetam and oxcarbazepine, either single or combined, were used in every SWS patient (n=3). Six months seizure-free was obtained in a patient with SWS with combined anticonvulsant therapy. Conclusion: Drug-refractory and early-age epilepsy is associated with lower intelligence level that consequently affects poor social skill and quality of life in the patients with SWS. Sudden or gradual loss of vision is also a threat for SWS patients. Diagnosis at birth or during early age, multidisciplinary intervention, and follow-up is a must to improve absolute outcomes in the patients with SWS.

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Section: Discussionmentioning

confidence: 69%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Sturge-Weber syndrome: Clinico-neuroradiological features and treatment profile

Chatterjee

Sinha

2021

Nep J Neurosci

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“…Overall, PWS occurs in 0.3% live births [63]. In a recent study on the Olmsted County population, a 0.19/100,000/year incidence was found, with a prevalence of Caucasians (85%) and female sex (69%) [106]. The facial location is strongly indicative of SWS; indeed, the risk to develop SWS in a child born with PWS is 15-50% [27].…”

Section: Definition and Epidemiologymentioning

confidence: 99%

Sturge-Weber syndrome: an update on the relevant issues for neurosurgeons

et al. 2020

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Purpose Sturge-Weber syndrome (SWS) is a neurocutaneous facomatosis characterized by facial and leptomeningeal angioma, glaucoma, seizures, and neurological disability. Therefore, a challenging multidisciplinary interaction is required for its management. The goal of this paper is to review the main aspects of SWS and to present an illustrative pediatric series. Methods The pertinent literature has been analyzed, focused mainly on etiopathogenesis, pathology, clinical features, diagnostic tools, management, and outcome of the disease. Moreover, a series of 11 children operated on for refractory epilepsy between 2005 and 2015 (minimum follow-up 5 years, mean follow-up 9.6 years) is reported. The series consists of six boys and five girls with 6.5-month and 16.2-month mean age at seizure onset and at surgery, respectively. Seizures affected all children, followed by hemiparesis and psychomotor delay (81%), glaucoma (54%), and other neurological deficits (45%). Results All children underwent hemispherectomy (anatomical in three cases, functional in two cases, hemispherotomy in six cases); one patient needed a redo hemispherotomy. Mortality was nil; disseminated intravascular coagulation and interstitial pneumonia occurred in one patient each; three children had subdural fluid collection. Eight patients (72%) are in the ILAE Class 1 (completely seizure and aura free), two in Class 2 (only auras, no seizure), and one in Class 3 (1-3 seizure days per year). AEDs discontinuation was possible in 73% of cases. The most important news from the literature concerned the pathogenesis (role of the mutation of the GNAQ gene in the abnormal SWS vasculogenesis), the clinical findings (the features and pathogenesis of the stroke-like episodes are being understood), the diagnostic tools (quantitative MRI and EEG), and both the medical (migraine, seizures) and surgical management (epilepsy). The epileptic outcome of SWS patients is very good (80% are seizure-free), if compared with other hemispheric syndromes. The quality of life is affected by the neurological and cognitive deficits. Conclusions SWS still is an etiological and clinical challenge. However, the improvements over the time are consistent. In particular, the neurosurgical treatment of refractory epilepsy provides very good results as long as the indication to treatment is correct.

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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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Incidence of Sturge–Weber syndrome and associated ocular involvement in Olmsted County, Minnesota, United States

Cited by 15 publications

References 51 publications

Sturge-Weber syndrome: Clinico-neuroradiological features and treatment profile

Sturge-Weber syndrome: Clinico-neuroradiological features and treatment profile

Sturge-Weber syndrome: an update on the relevant issues for neurosurgeons

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

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