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Prcis: In eyes with Sturge-Weber syndrome (SWS) with early onset glaucoma, primary combined trabeculotomy with trabeculectomy (CTT) had a good intermediate-term success rate and minimal postoperative complications., Design: Retrospective cohort study., Objective: To report the intermediate-term outcomes of primary CTT in early onset glaucoma with SWS., Patients and Methods: This study included 49 eyes of 49 children (1997-2020) with SWS and early onset glaucoma who underwent primary CTT with at least 1-year postoperative follow-up. Success was defined as complete when intraocular pressure was >5 mm Hg and ≤16 mm Hg under general anesthesia or ≤21 mm Hg in the clinic without antiglaucoma medications (AGMs) and as qualified with AGM., Results: The median age (interquartile range) at CTT was 0.58 (0.19, 8.3) years. The median postoperative follow-up was 4.7 years (2.5, 9). The majority were male children (31/49, 63%). Epilepsy was noted in 7 (14.3%) and diffuse choroidal hemangioma in 17 children (35%). At diagnosis, 37 eyes(75%), had corneal edema, and the mean (±SD) horizontal corneal diameter was 12.8 ± 0.7 mm. Postoperatively, the median intraocular pressure decreased from 26 (22, 30) mm Hg to 16 (12, 20) mm Hg ( P < 0.0001) and the median number of AGM reduced from 1 (0,1) to 0 (0,1; P < 0.01). Complete success probability of CTT was 86% (76, 96) at 1 year and 64% (49, 84) at 5 years. Qualified success was 98% (94, 100) at 1 year and 89% (78, 100) at 5 years. A larger cup-to-disk ratio ( P < 0.005) was associated with a higher risk of surgical failure. Postoperative complications were noted in 9 eyes (18%), all resolved with conservative management except one eye with a retinal detachment that ended in phthisis bulbi., Conclusion: CTT as a primary procedure showed good long-term efficacy and safety in SWS with early onset glaucoma., Competing Interests: Disclosure: The authors declare no conflict of interest., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Objective: Port-wine birthmark (PWB) is a common occurrence in the newborn, and general pediatricians, dermatologists, and ophthalmologists are often called on to make an assessment of risk for Sturge-Weber syndrome (SWS) due to workforce shortages in pediatric neurologists and MRI's low sensitivity for SWS brain involvement in infants. We therefore aimed to develop a quantitative EEG (qEEG) approach to safely screen young infants with PWB for SWS risk and optimal timing of diagnostic MRI., Methods: Forty-eight infants (prior to first birthday) underwent EEG recording. Signal processing methods compared voltage between left and right sides using a previously defined pipeline and diagnostic threshold. In this test sample, we compared sensitivity/specificity of the qEEG metric against MRI performed after the first birthday. We also used likelihood ratio testing to determine whether qEEG adds incremental information beyond topographical extent of PWB, another risk marker of brain involvement., Results: qEEG helped predict SWS risk in the first year of life (p = 0.031), with a sensitivity of 50% and a specificity of 81%. It added about 40% incremental information beyond PWB extent alone (p = 0.042)., Conclusion: qEEG adds information to risk prediction in infants with facial PWB., Significance: qEEG can be used to help determine whether to obtain an MRI in the first year of life. The data collected can assist in developing a predictive model risk calculator that incorporates both PWB extent and qEEG results, which can be validated and then employed in the community., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2021 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.)

A 75-year-old woman presents to the acute medical take with confusion and headache following a road traffic accident. She had previously been fit and well, living alone with no assistance. Following multiple investigations, she was diagnosed with Sturge-Weber Syndrome, a rare neurocutaneous disorder that usually presents with seizures in childhood. This case highlights an unusual example of this syndrome, presenting for the first time later in life., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.)

Purpose: To explore the relationships between episcleral hemangioma distribution patterns and trabeculotomy prognosis in young Sturge-Weber syndrome (SWS) patients., Methods: Sturge-Weber syndrome-induced glaucoma patients less than 4 years of age who underwent trabeculotomy in our Ophthalmology Department from February 2016 to June 2017 were included. Every patient could be divided into simple episcleral vascular abnormal network (SEVAN) or multiple episcleral vascular abnormal network (MEVAN) groups according to their episcleral hemangioma patterns. The intraocular pressure (IOP) was recorded during follow-up until the last visit., Results: Fifty eyes (forty-six patients) of SWS were included. Mean age of surgery was 12.6 ± 15.1 months (range 1-47 months). Twenty-six eyes were in the SEVAN group, while 24 eyes were in the MEVAN group. There were no significant differences between the two groups in demographic data before surgery (p > 0.05). IOPs at 12 months (p = 0.013) and 24 months (p = 0.002) were significantly different between the two groups. At the 24-month follow-up, the cumulative proportions of trabeculotomy success in the SEVAN and MEVAN groups were 89.7% and 36.0%, respectively. Patients with MEVAN and larger preoperative corneal diameter (per 0.5 mm) were more likely to experience failed trabeculotomy (hazards ratio [HR], 7.997 [95% CI, 1.640-38.996], p = 0.010; 1.853 [95% CI, 1.128-3.042], p = 0.015)., Conclusion: Hemangiomas exhibited different distribution patterns between SEVAN and MEVAN. Trabeculotomy had a poorer prognosis in young SWS patients with MEVAN than in those with SEVAN. In addition to anterior chamber angle anomalies, vascular factors may contribute to the aetiology of SWS early-onset glaucoma., (© 2020 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.)

Introduction: Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome with typical clinical features including seizures, chronic hemiplegia, hemianopsia and intellectual impairment. Progressive clinical decline may be attributable, at least in part, to progressive venous ischemia. Transcranial Doppler (TCD) ultrasonography could be useful to monitor the degree of hemodynamic involvement and its progression., Purpose: To determine whether there is an association between the degree of asymmetry in TCD and intensity of clinical and radiological involvement and whether there is a correlation between clinical changes and changes in serial TCD., Methods: In fourteen SWS pediatric patients and two "possible cases" (infants younger than two years old without previously known brain involvement, but with other typical signs of SWS) mean flow velocity in the middle cerebral arteries (MCA) was measured by TCD in both hemispheres. The percent difference between hemispheres (asymmetry) was calculated. Clinical and radiological severity was scored using scales. The correlation between TCD asymmetry and SWS clinical and radiological scores was analyzed at baseline, as well as the correlation between the changes in the different variables (TCD asymmetry, clinical and radiological cores) during evolution and in relation to the changes due to therapy., Results: The percentage of MCA velocity asymmetry was positively correlated with the clinical severity score (p = 0.04), and with seizure frequency (p = 0.014). Throughout evolution, therapeutic and clinical changes were associated with noticeable changes in transcranial doppler asymmetry in some cases., Conclusions: TCD may provide a noninvasive method to assess the severity of blood flow abnormalities at baseline and a method to monitor children for progressive changes over time., Competing Interests: Declaration of competing interest None., (Copyright © 2020 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Purposes: This study was to further explore the adenosine dysfunction in refractory epilepsy in Sturge-Weber Syndrome (SWS), to evaluate the neuronal-level effect of the A1 receptor (A1R) agonist on both excitatory pyramidal neurons and inhibitory interneurons, to discuss the possibility of adenosine augmentation therapy (AAT) using A1R agonist for treating refractory epilepsy in SWS., Materials and Methods: The intrinsic excitatory properties of pyramidal cells (PCs) and fast-spiking (FS) interneurons from human brain tissues with SWS cases and malformations of cortical development (MCD) cases were compared using electrophysiology. With application of either A1R agonist or antagonist, the neuronal-level effect of A1R agonist was evaluated in vitro in PCs and FS interneurons from SWS cases and MCD cases., Results: No significant difference of passive excitatory properties of PCs and FS interneurons was found between SWS cases and MCD cases. In terms of the neuronal-level effect of A1R agonist, with 22.88 ± 1.12% percentage of decreased frequency, FS interneurons showed relatively highest sensitivity of A1R agonist application, compared with PCs from SWS cases and FS interneurons and PCs from MCD cases., Conclusion: Our results supported the potential of AATs using A1R agonist to be a novel therapy for reducing life burden from patients with refractory epilepsy in SWS, with application to epileptic generation region but not propagation region., Competing Interests: Declaration of competing interest The authors declare that they have no competing interests., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Background : Sturge-Weber syndrome (SWS) is a rare sporadic syndrome characterized by nevus flammeus (port-wine stain, PWS) in the trigeminal nerve distribution, diffuse choroidal hemangioma, and brain leptomeningeal hemangioma. We are unaware of previous reports of SWS incidence in the United States. This study investigated SWS incidence and associated ocular involvement in Olmsted County, Minnesota. Materials and methods : The Rochester Epidemiology Project database was used to identify SWS cases from January 1, 2000-December 31, 2017. Incidence of SWS was calculated using the Olmsted County census population. A literature review of studies investigating SWS-associated ocular involvement was also performed. Results : There were 13 patients with SWS in Olmsted County classified as type 1 (31%) or type 2 (69%). Age and sex-adjusted incidence of SWS was 0.19/100,000/year. Race was predominantly Caucasian (85%), with sex female (69%) or male (31%). All patients had PWS, mostly with unilateral distribution in the V1 and/or V2 region (85%). Two cases (15%) had associated Klippel-Trenaunay syndrome. The most common ocular features included: dilated episcleral vessels (46%), glaucoma (46%), retinal detachment (23%), DCH (7.7%), strabismus (31%), and refractive error (38%). PWS in the V1 distribution was associated with all cases of glaucoma, DCH, and neurological involvement. Severe visual impairment (>0.6 LogMAR, Snellen equivalent ≤20/100) was found in (23%) at final follow-up, and one patient (8%) required enucleation for uncontrolled glaucoma. Conclusions : SWS affects approximately 0.19/100,000/year in Olmsted County. Early diagnosis, intervention, lifelong follow-up, and multidisciplinary approach should be used to optimize systemic and ocular outcomes.

We present an unusual case of Sturge-Weber syndrome whose main clinical manifestations were nevus flammeus, seizures, glaucoma, and acoria. To our knowledge, the combination of Sturge-Weber syndrome and acoria has not been previously reported.

Purpose: To evaluate the efficacy and safety of Ahmed valve implantation in childhood glaucoma associated with Sturge-Weber syndrome (SWS)., Methods: A retrospective chart review of patients who underwent primary Ahmed valve implantation in childhood glaucoma associated with SWS. The outcome measures were success rate (Intraocular pressure (IOP) >5 and <21 mm Hg without additional surgical maneuver), and operative complications., Results: Twenty-four eyes of 18 patients were analyzed. Mean IOP (26.21 ± 3.52 to 12.27 ± 1.27 mm Hg) and mean number of anti-glaucoma medicines (3.92 ± 0.28 to 1.5 ± 1) reduced significantly after the surgery at the mean follow-up of 2.12 ± 0.87 years (P = < 0.05). The cumulative probability of success rate was 75% (Confidence Interval 95%, 60 to 100%) by Kaplan-Meier survival curve analysis. Failed eyes [6 (25%)], hyphema [4 (16.67%)], hypotony [3 (12.5%)], choroidal detachment [3 (12.5%)], tube-cornea touch [2 (8.33%), and visually significant cataract [4 (16.67%)] were the complications observed in post-operative period., Conclusion: Primary Ahmed valve implantation may provide a safe and effective option in the management of childhood glaucoma associated with SWS.

Sturge-Weber syndrome belongs to the group of phacomotoses and is characterized by a combined lesion of the skin, eyes, nervous system and internal organs. The clinical course of Sturge-Weber syndrome is quite diverse. Of particular interest in the practice of pediatric neurology and neurosurgery is the fact that 72-90% of patients present with epilepsy. Of particular difficulty is the differential diagnosis of epileptic seizures and stroke-like episodes. The article presents clinical cases of patients with Sturge-Weber syndrome of various ages with epileptic seizures and transient ischemic attacks.

The phakomatoses, encephalotrigeminal angiomatosis (ETA; Sturge-Weber Syndrome), neurofibromatosis type 1 (NF1 or von Recklinghausen disease), Von Hippel-Lindau (VHL) disease, tuberous sclerosis (TSC), oculodermal melanocytosis (ODM), and phakomatosis pigmentovascularis are a group of neurocutaneous disorders that have characteristic systemic and ocular manifestations. Through many different mechanisms, they may cause glaucomatous damage of the optic nerve and subsequent vision loss varying from mild to severe. Glaucoma commonly affects patients with ETA (43-72%), orbito-facial NF1 (23-50%), and ODM (10%). Rarely, it may present as neovascular glaucoma in VHL and TSC. In ETA, glaucoma typically occurs ipsilateral to the port-wine stain, which is caused by a mutation in the GNAQ gene. Specifically, mechanical malformation of the anterior chamber angle and elevated episcleral venous pressure has been implicated as causes of glaucoma in ETA. In NF1, which is caused by a mutation in the NF1 tumor suppressor gene, glaucoma commonly occurs ipsilateral to lid plexiform neurofibromas. Histological studies of eyes with NF1 have revealed direct anterior chamber infiltration by neurofibromas, secondary angle closure, fibrovascularization, and developmental angle abnormalities as mechanisms of glaucoma. Lastly, phakomatosis pigmentovascularis is a rare combination of ODM and port-wine stain. Affected patients are at very high risk of developing glaucoma. Despite the many different mechanisms of glaucomatous damage, management follows similar principles as that for congenital glaucoma and primary open angle glaucoma. First-line therapy is topical intraocular pressure-lowering eye drops. Surgical management, including goniotomy, trabeculotomy, trabeculectomy, and tube shunt placement may be required for more severe cases., (© 2018 Wiley Periodicals, Inc.)

Purpose: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by a facial port-wine stain, a glaucoma, and a leptomeningeal angioma. Epilepsy occurs in more than 75% of affected children, and seizures occurring in the first year of life are associated with a poor neurological prognosis. The aim of this study was to identify possible predictive markers of epilepsy on electroencephalogram (EEG) performed prior to seizure onset in children with SWS., Methods: This study included children with a diagnosis of SWS who had an EEG performed prior to seizure onset. Patients who did not develop epilepsy had a minimum follow-up of 3-years. We compared EEG characteristics of patients who developed epilepsy with patients who did not develop epilepsy by the time of their follow-up., Results: Eleven children were included in this study. EEG was performed at the median age of 2.1 months (range 1.0-22.1). Six children developed seizures with a time interval between EEG and seizure onset ranging from 2 days to 21 months. EEG background activity was asymmetric in 8 patients, 5 of whom later developed epilepsy. Focal interictal spikes or sharp waves were exclusively recorded in patients who developed later epilepsy (4 out of 6). One of these patients had a supposed false positive EEG as he did not developed epilepsy until 21 months later and one patient had a false negative EEG with seizures occurring 2 days after a normal EEG., Conclusion: Spikes on EEG might be a useful marker to identify patients with SWS at risk of developing epilepsy. Their predictive value should be assessed in larger prospective studies., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Purpose: Vision loss in Sturge-Weber syndrome (SWS), a rare congenital disorder, is primarily due to glaucoma., Methods: We reviewed the data of all consecutive SWS-associated glaucoma cases in patients who had undergone combined trabeculotomy-trabeculectomy (CTT) at a tertiary glaucoma facility between January 1993 and December 2015. We analyzed the preoperative and postoperative intraocular pressure (IOP), corneal clarity, visual acuity, success rate, need for repeat surgery, and number of topical antiglaucoma medications needed at last follow-up., Results: Twenty-six eyes of 20 patients with SWS (surgical age 0.7-96 months; mean 18.64 ± 29.74 months) had undergone primary CTT. The mean preoperative IOP was 32.76 ± 7.86 mm Hg (range 22-54 mm Hg) with medication (mean 3.11 ± 1.17; range 1-5). At the last follow-up (61-288 months); mean SD 134.73 ± 67.77 months), two eyes had IOP <6 mm Hg. Twenty-four eyes analyzed had an IOP of 13.63 ± 6.11 (mean ± SD; range 9-41) mm Hg. All these had an IOP <15 mm Hg at last follow-up except one, which had an IOP of 41 mm Hg. There was a mean reduction of 54.62% ± 31.33% in IOP from baseline. The antiglaucoma medication score at last follow-up visit was 0-3. No eye achieved predefined complete success or modified complete success. A total of 41.7% (10/24) of eyes attained both qualified and modified qualified success. Eleven eyes needed repeat surgeries. No intraoperative complications were noted. Visual acuity was below 6/60 in four eyes., Conclusions: Combined trabeculotomy-trabeculectomy showed promising results as a treatment for SWS-associated glaucoma in children. Long-term visual and surgical outcomes are encouraging.

Purpose: Most children with Sturge-Weber syndrome (SWS) develop seizures that may contribute to neurocognitive status. In this study, we tested the hypothesis that very early seizure onset has a particularly detrimental effect on the cognitive and/or motor outcomes of children with unilateral SWS. We also tested whether side of SWS brain involvement modulates the effect of seizure variables on the pattern of cognitive abnormalities., Methods: Thirty-four children (22 girls; mean age 6.1years) with unilateral SWS and history of epilepsy in a longitudinal cohort underwent neurological and cognitive evaluations. Global intelligent quotient (GIQ), verbal intelligent quotient (VIQ), nonverbal intelligent quotient (IQ), and motor function were correlated with epilepsy variables, side and extent of brain involvement on magnetic resonance imaging (MRI)., Results: Mean age at seizure onset was 1.3years (0.1-6years) and mean IQ at follow-up was 86 (45-118). Age at seizure onset showed a logarithmic association with IQ, with maximum impact of seizures starting before age 1year, both in uni- and multivariate regression analyses. In the left SWS group (N=20), age at seizure onset was a strong predictor of nonverbal IQ (p=0.001); while early seizure onset in the right-hemispheric group had a more global effect on cognitive functions (p=0.02). High seizure frequency and long epilepsy duration also contributed to poor outcome IQ independently in multivariate correlations. Children with motor involvement started to have seizures at/before 7months of age, while frontal lobe involvement was the strongest predictor of motor deficit in a multivariate analysis (p=0.017)., Conclusion: These findings suggest that seizure onset prior to age 1year has a profound effect on severity of cognitive and motor dysfunction in children with SWS; however, the effect of seizures on the type of cognitive deficit is influenced by laterality of brain involvement., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Purpose: To evaluate the intermediate-term efficacy and safety of trabeculotomy in infant Sturge-Weber syndrome (SWS)., Design: Retrospective cohort study., Methods: All SWS-induced glaucoma patients less than 12 months of age who underwent trabeculotomy at our Ophthalmology Department from August 2011 to March 2017 were reviewed. Baseline demographics, intraocular pressure (IOP), cup-to-disc ratio (C/D), and cornea diameters were noted before surgery. The IOP, success probabilities, and medication usage were recorded during follow-up until the last visit., Results: Overall, 34 eyes (32 patients) were included, with a median surgery age of 3 months and a median follow-up time of 15.5 months. The mean preoperative IOP, asymmetry between 2 eyes, cornea diameter, and median C/D were 21.5 ± 6.6 mm Hg, 10.1 ± 4.9 mm Hg, 12.6 ± 0.7 mm, and 0.65 (interquartile range [IQR]: 0.55, 0.80), respectively. The IOP was significantly reduced from the preoperative baseline at 1 week, 3 months, 6 months, 1 year, and 2 years after the surgery (P < .05). At the last follow-up, the cumulative proportions of overall and complete success were 86.6% and 66.0%, respectively. Complications included a transient shallow anterior chamber. Thirty of the 34 eyes had intraoperative hyphema, 27 of which lasted less than 3 days. No other complications were noted during the follow-up., Conclusions: Compared to previous studies with a later diagnosis of glaucoma in SWS patients, better outcomes were achieved with an early diagnosis of glaucoma in SWS patients. Early trabeculotomy ab externo was safe and led to good intermediate-term surgical outcomes for early-onset glaucoma in SWS patients. Higher preoperative IOP and corneal edema were associated with a greater risk of surgery failure., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Background: The reproducibility of transcranial Doppler (TCD) ultrasound measurements in Sturge-Weber syndrome (SWS) and TCD's ability to predict neurological progression is unknown., Methods: In 14 individuals with SWS, TCD measured mean flow velocity, pulsatility index, peak systolic velocity, and end-diastolic velocity in the middle, posterior, and anterior cerebral arteries of the affected and unaffected hemisphere. TCD was performed either once (n = 5) or twice in one day (n = 9). We assessed the reproducibility of the measurements performed twice on the same day on subjects and compared the TCD measurements to previously published age-matched controls. Clinically obtained neuroimaging was scored for extent and severity of SWS brain involvement. Patients were prospectively assigned SWS neuroscores., Results: Middle cerebral artery velocity (r = 0.79, P = 0.04, n = 7), posterior cerebral artery velocity (r = 0.90, P = 0.04, n = 5), and anterior cerebral artery pulsatility index (r = 0.82, P = 0.02, n = 7) were reproducible TCD measurements comparing same-day percent side-to-side differences. In subjects with SWS, affected and unaffected mean peak systolic velocity and end-diastolic velocity in the middle, posterior, and anterior cerebral arteries were globally lower compared with age-matched control subjects. Subjects with the lowest affected middle cerebral artery velocity had the greatest worsening in the total neurological score between time 1 and 2 (r = -0.73, P = 0.04, n = 8) and the most severe magnetic resonance imaging involvement of the affected frontal lobe (r = -0.82, P = 0.007, n = 9)., Conclusions: TCD may be a reliable measure with potential clinical value, indicating that blood flow may be globally decreased in SWS patients with unilateral brain involvement., (Copyright © 2017. Published by Elsevier Inc.)

Aim: To evaluate clinical and metabolic correlates of cerebral calcifications in children with Sturge-Weber syndrome (SWS)., Method: Fifteen children (11 females, four males; age range 7mo-9y, mean 4y 1mo) with unilateral SWS underwent baseline and follow-up magnetic resonance imaging (MRI) with susceptibility weighted imaging (SWI), glucose metabolism positron emission tomography (PET), and neurocognitive assessment (mean follow-up 1y 8mo). Calcified brain volumes measured on SWI were correlated with areas of abnormal glucose metabolism, seizure variables, and cognitive function (IQ)., Results: Ten children had brain calcification at baseline and 11 at follow-up. Mean calcified brain volume increased from 1.69 to 2.47cm 3 (p=0.003) in these children; the rate of interval calcified volume increase was associated with early onset of epilepsy (Spearman's rho [r s ]=-0.63, p=0.036). Calcified brain regions showed a variable degree of glucose hypometabolism with the metabolic abnormalities often extending to non-calcified cerebral lobes. Larger calcified brain volumes at baseline were associated with longer duration of epilepsy (r s =0.69, p=0.004) and lower outcome IQ (r s =-0.53, p=0.042)., Interpretation: Brain calcifications are common and progress faster in children with SWS with early epilepsy onset, and are associated with a variable degree of hypometabolism, which is typically more extensive than the calcified area. Higher calcified brain volumes may indicate a risk for poorer neurocognitive outcome., (© 2017 Mac Keith Press.)

Purpose: To evaluate choroidal thickness and its effect on the outer retinal layers in patients with Sturge Weber syndrome (SWS)., Materials and Methods: Twenty eyes of 10 patients with SWS and 20 eyes of 10 healthy controls were evaluated at the ophthalmology unit of the Umberto I Policlinic, Rome from December 2015 to May 2015. Manual segmentation measurements of choroidal and retinal pigment epithelium (RPE)-photorec eptor layer (PHL) thickness were performed at the subfovea and at 500 µm intervals over 3 mm-long horizontal and vertical segments using enhanced depth spectral domain optical coherence tomography., Results: Mean choroidal thickness of the affected (561.6 µm ± 208.8) and fellow eyes (322.0 µm ± 56.6) of patients with SWS was significantly higher with respect to controls (266.5 µm ± 48.5 µm), p = 0.001 and p = 0.017, respectively. Mean RPE-PHL thickness was significantly lower in both the affected and fellow eyes of patients with respect to controls (p = 0.039 and p = 0.025, respectively)., Conclusions: The choroid is thickened in patients with SWS, but the RPE-PHL is thinner. Choroidal thickening may lead to functional impairment causing disruption in the fine equilibrium between the choroid and retina and consequent outer retinal layer thinning.

Visual functions in Sturge-Weber syndrome (SWS) may be impaired by glaucoma, diffuse choroidal haemangioma (DCH) or leptomeningeal angioma. The aim of this study was to gain better insight in the visual deficits of SWS patients. A systematic literature search using PubMed and Embase medical databases was performed to identify articles describing visual acuity (VA) and/or visual field (VF) findings in SWS patients. In addition, a Dutch multicentre cohort with 33 SWS patients was collected and the combined results of VA and VF findings are presented. Visual acuity results of 25 studies and VF results of 12 studies were suitable for data extraction. Description of the combination of both VA and VF findings was scarce. Homonymous hemianopia (HH) was present in 42% of SWS patients. Seventy per cent of eyes had a (near) normal vision, while VA of eyes with glaucoma or DCH was severely impaired in 28% and 67%, respectively. In the Dutch cohort, only 18% (6/33) of patients had (near) normal findings of both visual parameters. In addition, half of the patients with glaucoma suffered from a combination of a HH and VA impairment. In conclusion, although SWS patients are exposed to severe functional visual impairment due to the possible cumulative consequences of glaucoma, DCH and cerebral injury, description of the combination of both VA and VF results is scarce in the literature. Particularly, the combination of visual impairment due to glaucoma or DCH, and HH might be invalidating., (© 2016 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.)

Sturge-Weber syndrome (SWS) is a neurocutaneous disorder with skin, eye, and brain involvement. Hemiplegia in children with SWS after a mild head injury is known to occur in up to one-fifth of cases. A3-year male child presented with a sudden onset hemiplegia following a mild head injury. He was known to have seizure disorder and was being treated with sodium valproate. CTscan of the brain showed contusion. He was admitted for neurological observations and the patient made complete recovery with conservative treatment. MRI scan of the brain done 5 days later which showed venous malformation of choroid plexus on the left side. These changes were considered to be consistent with a preexisting cerebral lesion which coincidentally got detected at neuroimaging done after the mild head injury. There is need for good seizure control as it is likely to be associated with better neurological outcome. The case emphasizes the need for clinical correlation with findings at neuroimaging in children with SWS presenting with head injuries.

Background: Sturge-Weber syndrome is often accompanied by seizures and neurocognitive deterioration, although previous studies have suggested that early functional brain reorganization may diminish the cognitive sequelae in some children with unilateral Sturge-Weber syndrome. The "rules" governing these plasticity mechanisms are poorly understood. In this study, we evaluated longitudinal changes of cognitive functioning (intelligence quotient [IQ]) and assessed the performance of clinical, electroencephalography (EEG), and magnetic resonance imaging (MRI) variables for predicting IQ in children with Sturge-Weber syndrome., Methods: Thirty-three young children (mean age: 3.3 years at baseline) with unilateral Sturge-Weber syndrome underwent MRI, scalp EEG, and neuropsychology evaluation twice, with a median follow-up of 2 years. None of the children had epilepsy surgery. Longitudinal IQ changes were calculated. Seizure variables, interictal EEG abnormalities, and extent and location of MRI brain involvement were correlated with IQ assessed at follow-up., Results: Global IQ showed a highly variable course with both increases and decreases over time. Lower IQ at baseline was associated with interval IQ increase. In univariate analyses, lower outcome IQ was associated with baseline EEG abnormalities (P < 0.001), young age at seizure onset (P = 0.001), high seizure frequency (P = 0.02), and early frontal-lobe involvement on MRI (P = 0.01). In multivariate analysis, EEG abnormalities at baseline remained a robust, independent predictor of outcome IQ., Conclusions: The early trajectory of cognitive changes in children with unilateral Sturge-Weber syndrome is highly variable; children with improving IQ likely undergo effective unimpeded functional reorganization. Early onset, frequent seizures, and interictal epileptiform abnormalities on EEG likely interfere with this process resulting in poor cognitive functions. Future studies assessing interventions should target this high-risk subgroup to optimize cognitive outcome in Sturge-Weber syndrome., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Objective: We analyzed individuals with epilepsy due to Sturge-Weber syndrome to determine which anticonvulsants provided optimal seizure control and which resulted in the fewest side effects., Methods: One-hundred-eight records from a single center were retrospectively analyzed for Sturge-Weber syndrome brain involvement, epilepsy, Sturge-Weber syndrome neuroscores, and currently used anticonvulsants., Results: Of the fourteen anticonvulsants that had been employed, the most often used agents were oxcarbazepine or carbamazepine, and levetiracetam. Individuals whose seizures at the most recent visit were fully controlled (seizure-free) for 6 months or longer were more likely to have ever tried, or currently used, oxcarbazepine or carbamazepine than those with uncontrolled seizures. Thirty-nine of 69 individuals (56.5%) were seizure-free with oxcarbazepine or carbamazepine history versus 11 of 35 individuals (31.4%) who had not taken these agents (P < 0.05); 38 of 62 patients (61.3%) were seizure-free while currently taking these anticonvulsants versus 12 of 42 (28.6%) not taking them (P < 0.01). Patients with seizure control for 6 months or longer were less likely to have ever tried, or to currently be taking, levetiracetam than those without control. Sixteen of 56 individuals (28.6%) were seizure-free with levetiracetam history versus 34 of 48 (70.8%) without it (P < 0.001); 14 of 43 individuals (32.6%) were seizure-free and currently taking levetiracetam versus 36 of 61 (59.0%) not taking it (P < 0.01). When topiramate was added as second-line medication, five of nine patients (55.6%) experienced decreased seizure severity, and worsening of glaucoma was not reported., Conclusions: Carbamazepine and oxcarbazepine were associated with better seizure control than levetiracetam in this Sturge-Weber syndrome cohort and so may be preferred as the initial therapy. When used as adjunctive therapy, topiramate was effective in this limited analysis without a clear increased incidence of glaucoma., (Copyright © 2016. Published by Elsevier Inc.)

Background: We describe the brain magnetic resonance imaging (MRI) abnormalities and neuropathologic findings of patients with Sturge-Weber syndrome and medically refractory epilepsy., Methods: We reviewed the clinical features, preoperative MRI studies, and pathologic findings of all patients with Sturge-Weber syndrome who underwent excisional surgery for intractable epilepsy at Boston Children's Hospital between 1993 and 2011., Results: Eleven patients (male/female = 4/7) with Sturge-Weber syndrome were identified who underwent surgery for intractable epilepsy (mean age 13 ± 6.2 months), including hemispherectomy (n = 10) and focal cortical resection (n = 1). Mean age at seizure onset was 15 ± 11 weeks. Fifty-five percent (n = 6) of patients exhibited two different types of seizures, and 18% (n = 2) had three types of seizures. Focal clonic seizures were the most common type, occurring in nine patients; apnea was the second most common, occurring in four patients. Brain MRIs were reviewed in five patients. Histopathologic examination revealed varied degrees of cortical morphologic anomaly in seven of 11 patients. Overall, there were no abnormalities in the MRIs that corresponded directly with the pathologic findings except in one patient with polymicrogyria., Conclusions: In spite of pathologic findings of cortical anomalies in varied degrees, these findings could not be readily detected on brain MRIs. The failure to detect focal cortical dysplasia on MRIs may be attributable to the subtle microscopic nature of the abnormalities; in some of the older individuals, the imaging studies available for review were done during an advanced stage of the disease., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Sturge-Weber syndrome (SWS) is a vascular neurocutaneous disorder that results from a somatic mosaic mutation in GNAQ, which is also responsible for isolated port-wine birthmarks. Infants with SWS are born with a cutaneous capillary malformation (port-wine birthmark) of the forehead or upper eyelid which can signal an increased risk of brain and/or eye involvement prior to the onset of specific symptoms. This symptom-free interval represents a time when a targeted intervention could help to minimize the neurological and ophthalmologic manifestations of the disorder. This paper summarizes a 2015 SWS workshop in Bethesda, Maryland that was sponsored by the National Institutes of Health. Meeting attendees included a diverse group of clinical and translational researchers with a goal of establishing research priorities for the next few years. The initial portion of the meeting included a thorough review of the recent genetic discovery and what is known of the pathogenesis of SWS. Breakout sessions related to neurology, dermatology, and ophthalmology aimed to establish SWS research priorities in each field. Key priorities for future development include the need for clinical consensus guidelines, further work to develop a clinical trial network, improvement of tissue banking for research purposes, and the need for multiple animal and cell culture models of SWS., (Copyright © 2016. Published by Elsevier Inc.)

Introduction: Sturge-Weber syndrome (SWS) is a rare sporadic congenital neurocutaneous syndrome which is characterized by vascular malformation involving the brain, face and eye. The anesthetic management is complicated by its localized as well as systemic manifestations, associated anomalies and difficult airway due to the presence of angiomas of the oral cavity and airway. We retrospective analyzed the perioperative anesthetic management of children with SWS undergoing ophthalmic surgery and reviewed the literature., Methods: Medical records and anesthetic charts of all the children with SWS who had undergone an ophthalmic procedure under general anesthesia during the past 6 years were reviewed. Information related to the demographic profile, preoperative evaluation, anesthetic techniques, and perioperative complications were collected and analyzed., Results: Forty children with SWS received general anesthesia for an ophthalmic procedure within the 6-year period. The median age of the children was 3 years. 30 (92.5%) children had facial port-wine staining, 10 (25%) had facial hypertrophy, 15 (37.5%) had a history of convulsion and 4 (10%) children had mental retardation. Inhalational induction was performed in 34 (85%) children (sevoflurane 82.8%). A laryngeal mask airway (LMA) and endotracheal tube were used in 32 (80%) and 5 (12.5%) cases, respectively. One patient had difficult mask ventilation and difficult LMA insertion. There was no significant problem in any of the other children., Conclusion: Preoperative evaluation with airway assessment should be performed with the knowledge of local and systemic manifestation of the syndrome. Proconvulsant and anticonvulsant properties of the anesthetics, as well as drug interactions of antiepileptic medications should be considered when planning anesthesia. Avoiding a rise in intracranial and intraocular pressures, vigilant intraoperative monitoring and postoperative care are the key for conducting safe anesthesia in these children. For ophthalmic procedures, LMAs can be used for airway maintenance with minimal complications in children with SWS.

Sturge-Weber syndrome is a vascular malformation syndrome consisting of a facial port-wine birthmark associated with malformed leptomeningeal blood vessels and a choroid "angioma" of the eye. It is a rare neurocutaneous disorder that occurs sporadically, is not inherited, and is caused by a somatic mosaic mutation in GNAQ. In patients with Sturge-Weber syndrome, brain involvement typically presents in infancy with seizures, strokes, and stroke-like episodes, and a range of neurologic impairments. Standard treatment includes laser therapy for the birthmark, control of glaucoma through eyedrops or surgery, and the use of anticonvulsants. Increasingly low-dose aspirin is offered. Treatment with propranolol has been tried generally without the dramatic results seen in hemangiomas. Treatment with an anticonvulsant or low-dose aspirin or both before the onset of seizures is an option. Surgical resection may be offered to those whose seizures are medically refractory. Endocrine, medical rehabilitation and cognitive comorbidities are important to manage. In the future, new therapeutic options are likely to be offered stemming from preclinical studies and small pilot clinical trials currently ongoing. Discovery of the causative somatic mosaic mutation suggests new insights into the pathophysiology of this vascular malformation disorder, and potential novel treatment strategies for future study. The mutation results in constitutive overactivation of the Ras-Raf-MEK-ERK and the HIPPO-YAP pathways and inhibitors of these pathways may in the future prove useful in the treatment of Sturge-Weber syndrome., (Copyright © 2015. Published by Elsevier Inc.)

Background: Analysis of infraslow EEG activity (ISA) has shown potential in the evaluation of patients with epilepsy and in the differentiation between focal and generalized epilepsies. Infraslow EEG activity analysis may also provide insights into the pathophysiology of refractory clinical and subclinical status epilepticus. The purpose of this report is to describe a girl with Sturge-Weber syndrome (SWS) who presented with a 96-h refractory encephalopathy and nonischemic hemiparesis and who was identified to have infraslow status epilepticus (ISSE), which successfully resolved after midazolam administration., Methods: The continuous EEG recording of a 5-year-old girl with known structural epilepsy due to Sturge-Weber syndrome is presented. The patient presented to the ED with acute confusion, eye deviation, and right hemiparesis similar to two previous admissions. Despite administration of lorazepam, fosphenytoin, phenobarbital, and valproic loads, the patient showed no improvement in the clinical condition after 48 h. The continuous video-EEG monitoring (VEM) showed continuous severe diffuse nonrhythmic asymmetric slowing but no apparent ictal activity on continuous conventional EEG recording settings. As brain CT, CTA, CTV, and complete MRI scans including DWI obtained within 72 h of presentation failed to demonstrate any ischemic changes, analysis of the EEG infraslow (ISA) activity was undertaken using LFF: 0.01 Hz and HFF: of 0.1 Hz, respectively., Results: Continuous subclinical unilateral rhythmic ictal ISA was identified. This was only evident on the left hemisphere which correlated with the structural changes due to SWS. A trial of continuous 120 to 240 μg/kg/h of IV midazolam resulted in immediate resolution of the contralateral hemiparesis and encephalopathy., Conclusion: Continuous prolonged rhythmic ictal infraslow activity (ISA) can cause super-refractory subclinical focal status epilepticus. This has not been previously reported, and we propose that this be called infraslow status epilepticus (ISSE). Infraslow EEG activity analysis should be performed in all patients with unexplained subclinical status epilepticus. This article is part of a Special Issue entitled "Status Epilepticus"., (Crown Copyright © 2015. Published by Elsevier Inc. All rights reserved.)

Sturge-Weber syndrome is a rare neurocutaneous disorder involving the leptomeninges, skin of the face, and, in 40% of cases, diffuse choroidal hemangioma. We report the case of a 6-year-old girl with Sturge-Weber syndrome and a large diffuse choroidal hemangioma with retinal detachment involving the majority of the retina. The patient underwent photodynamic therapy. The retinal detachment resolved completely within 3 months of treatment. This case represents the youngest patient in the literature to undergo successful treatment with photodynamic therapy for Sturge-Weber syndrome-associated diffuse choroidal hemangioma., (Crown Copyright © 2015. Published by Elsevier Inc. All rights reserved.)

Sturge-Weber syndrome is the third most common neurocutaneous disorder, after neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20000 live births. Sturge-Weber syndrome is not inherited, but rather occurs exclusively sporadically, in both males and females and in all races and ethnic backgrounds. Sturge-Weber syndrome presents at birth with a capillary malformation on the face (port-wine birthmark) with later diagnosis of abnormal vasculature in the eye and the brain which result in a range of complications. The underlying somatic mosaic mutation causing both Sturge-Weber syndrome and isolated port-wine birthmarks was recently discovered and is an activating mutation in GNAQ. When a newborn presents with a facial port-wine birthmark on the upper face, that child has a 15-50% risk of developing Sturge-Weber syndrome brain and/or eye involvement, depending on the extent of the birthmark, and close monitoring and appropriate screening is essential for early diagnosis and optimal treatment. Treatment options include laser therapy for lightening of the birthmark, eye drops and surgery for glaucoma management, and aggressive anticonvulsant treatment, low dose aspirin, and neurosurgery where necessary. Future possible treatments based upon new knowledge of the somatic mutation and downstream pathways are currently being considered and studied., (© 2015 Elsevier B.V. All rights reserved.)

Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by capillary malformation (port-wine stains), and choroidal and leptomeningeal vascular malformations. Previously, the recurrent somatic mutation c.548G>A (p.R183Q) in the G-α q gene (GNAQ) was identified as causative in SWS and non-syndromic port-wine stain patients using whole-genome sequencing. In this study, we investigated somatic mutations in GNAQ by next-generation sequencing. We first performed targeted amplicon sequencing of 15 blood-brain-paired samples in sporadic SWS and identified the recurrent somatic c.548G>A mutation in 80% of patients (12 of 15). The percentage of mutant alleles in brain tissues of these 12 patients ranged from 3.6 to 8.9%. We found no other somatic mutations in any of the seven GNAQ exons in the remaining three patients without c.548G>A. These findings suggest that the recurrent somatic GNAQ mutation c.548G>A is the major determinant genetic factor for SWS and imply that other mutated candidate gene(s) may exist in SWS.

Children with tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis all have complex but differing needs in the process of transition/transfer to adult care. All three may be associated with long-term normal intelligence or a varying degree of intellectual disability. In tuberous sclerosis complex, the emphasis of care in adulthood shifts from seizure control and developmental issues to renal and psychiatric disease and other issues. In Sturge-Weber syndrome, the emphasis shifts from seizure control and rehabilitation to management of disability and migraine. In Rasmussen encephalitis, transition may be particularly complex for those with adolescent onset. Those successfully operated on for childhood onset have a static problem and the potential to do well in life., (Wiley Periodicals, Inc. © 2014 International League Against Epilepsy.)

Objective: To review the clinical manifestations and neuroimaging features of patients with Sturge-Weber syndrome (SWS) treated at Srinagarind Hospital over a 12-year period., Material and Method: A retrospective study of sixteen patients with SWS (9 males and 7 females) was conducted. The medical records, photographs, and neuroimaging studies were reviewed, Results: All patients had port-wine stain (PWS) involving the eyelid. Bilateral cutaneous lesions were revealed in four patients (25%). Glaucoma was the main ocular disease being diagnosed in 11 eyes of nine patients (56.25%); four eyes were finally blind. The cyclodestructive procedure and/or surgical treatment was required in four eyes. Other ocular abnormalities were refractive error dilated episcleral vessels, corneal abnormalities, tortuous retinal vessels, choroidal hemangioma, amblyopia, and strabismus. Twelve patients (75%) had neurological impairment including seizure, hemiparesis, headache, and delayed development. However the most common neurological manifestation was epilepsy (75%), which could be controlled with antiepileptic drugs. Neurological imaging was performed in the majority of cases (14 patients). Intracranial abnormalities were demonstrated in 11 patients (78.57%). These included cerebral atrophy (81.82%), cerebral calcification (54.55%), leptomeningeal angioma (27.27%), and enlarged choroidal plexus (27.27%). The ocular complication and intracranial abnormalities were usually ipsilateral to the PWS. One patient with unilateral PWS, however had bilateral intracranial lesion., Conclusion: Port-wine stains, glaucoma, and seizure were the most common clinical features of Sturge-Weber syndrome detected in the present study. Complete ophthalmic and neurological evaluation should be performed at the time ofdiagnosis. Multidisciplinary team management as well as lifelong follow-up is needed.

Sturge-Weber syndrome is a rare sporadic neurocutaneous syndrome the hallmark of which is a facial port-wine stain involving the first division of the trigeminal nerve, ipsilateral leptomeningeal angiomata and angioma involving the ipsilateral eye. Our understanding of the disease process has vastly improved since it was first described in 1879, with recent identification of an activating somatic mutation in the GNAQ gene found in association with both Sturge-Weber syndrome and non-syndromic facial port-wine stain. Sturge-Weber syndrome is marked by a variable but usually progressive course in early childhood characterised by seizures, stroke-like episodes, headaches, neurological and cognitive deterioration, hemiparesis, glaucoma and visual field defects. More recently, the increased prevalance of otolaryngological, endocrine and emotional-behavioural issues have been established. Neurophysiology and neuroimaging studies provide information regarding the evolution of changes in Sturge-Weber syndrome over time. Early recognition and aggressive management of symptoms remains cornerstone in the management of this syndrome. An international collaborative effort is needed to maximise our understanding of the natural history and response to interventions in Sturge-Weber Syndrome., (Copyright © 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

The EEG in Sturge-Weber syndrome (SWS) was theorized over 50 years ago as changing over time from normality to focal asymmetry to lastly epileptiform. We sought to validate these findings in a larger cohort today. Children with confirmed SWS and routine EEG at our center were evaluated retrospectively. An EEG score (0-3) was created and linked to patient current age, overall neurologic function, and seizure frequency. Eighty-one EEGs from 44 patients with SWS (mean age 2.0 years (range: 0.2-37.9 years)) were evaluated and assigned an EEG score. The mean age for patients with an EEG score of 0-1 (normal or focal slowing) was 3.2 years (SEM 0.6), whereas those with an EEG score of 2-3 (focal sharp waves or frequent spike-wave bursts) was 8.7 years (SEM 1.7) (p=0.006). There was no correlation between the EEG score and either the SWS overall neuroscore or seizure subscore (measuring frequency). The EEG in patients with SWS does appear to evolve over time, becoming more abnormal with more frequent epileptiform activity, as suspected in smaller studies decades ago. This progressive change, however, did not correlate with the child's neurologic function or seizure frequency., (Copyright © 2014 Elsevier B.V. All rights reserved.)

Background: Reorganization of the corticospinal tract after early damage can limit motor deficit. In this study, we explored patterns of structural corticospinal tract reorganization in children with Sturge-Weber syndrome., Methods: Five children (age 1.5-7 years) with motor deficit resulting from unilateral Sturge-Weber syndrome were studied prospectively and longitudinally (1-2 years follow-up). Corticospinal tract segments belonging to hand and leg movements were separated and their volume was measured by diffusion tensor imaging tractography using a recently validated method. Corticospinal tract segmental volumes were normalized and compared between the Sturge-Weber syndrome children and age-matched healthy controls. Volume changes during follow-up were also compared with clinical motor symptoms., Results: In the Sturge-Weber syndrome children, hand-related (but not leg-related) corticospinal tract volumes were consistently decreased in the affected cerebral hemisphere at baseline. At follow-up, two distinct patterns of hand corticospinal tract volume changes emerged. (1) Two children with extensive frontal lobe damage showed a corticospinal tract volume decrease in the lesional hemisphere and a concomitant increase in the nonlesional (contralateral) hemisphere. These children developed good hand grasp but no fine motor skills. (2) The three other children, with relative sparing of the frontal lobe, showed an interval increase of the normalized hand corticospinal tract volume in the affected hemisphere; these children showed no gross motor deficit at follow-up., Conclusions: Diffusion tensor imaging tractography can detect differential abnormalities in the hand corticospinal tract segment both ipsi- and contralateral to the lesion. Interval increase in the corticospinal tract hand segment suggests structural reorganization, whose pattern may determine clinical motor outcome and could guide strategies for early motor intervention., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Purpose: To provide an in-depth re-examination of assumed causes of tissue hypertrophy, port-wine stains, and the Sturge-Weber, Cobb, Klippel-Trénaunay, and related syndromes to support an alternative unifying pathophysiologic mechanism of venous dysplasia producing focal venous hypertension with attendant tissue responses; to provide proof of concept with new patient data; to propose a novel etiological hypothesis for the venous dysplasia in these syndromes and find supportive evidence., Methods: Data from 20 patients with port-wine stains and corneal pachymetry readings was collected prospectively by the author in an institutional referral-based practice. The literature was searched using MEDLINE, and articles and textbooks were obtained from the bibliographies of these publications., Results: Newly obtained dermatologic, corneal pachymetry, fundus ophthalmoscopic, ocular and orbital venous Doppler ultrasonography, and magnetic resonance imaging findings in patients with the Sturge-Weber syndrome or isolated port-wine stains, along with published data, reveal diffusely thickened tissues and neural atrophy in all areas associated with venous congestion., Conclusions: Contrary to traditional understanding, signs and symptoms in the Sturge-Weber and related syndromes, including both congenital and acquired port-wine stains, are shown to arise from effects of localized primary venous dysplasia or acquired venous obstruction rather than neural dysfunction, differentiating these syndromes from actual phacomatoses. Effects of focal venous hypertension are transmitted to nearby areas via compensatory collateral venous channels in the above conditions, as in the Parkes Weber syndrome. A novel underlying etiology-prenatal venous thrombo-occlusion-is proposed to be responsible for the absence of veins with persistence and enlargement of collateral circulatory pathways with data in the literature backing this offshoot hypothesis. The mechanism for isolated pathologic tissue hypertrophy in these syndromes clarifies physiologic mechanisms for exercise-induced muscle hypertrophy to occur via venous compression and increased capillary transudation.

Backgrounds and Purpose: To correlate the extent of the leptomeningeal angiomatosis with clinical features in Sturge-Weber syndrome (SWS)., Methods: The study group consisted of 86 consecutive patients aged two months to 56 (mean 7.9 +/- 10.3) years with SWS and epilepsy. Clinical and MRI data were analyzed., Results: Based on the extent of leptomeningeal angiomatosis, patients were divided into two subgroups: 43 patients had hemispheric angiomatosis and atrophy, whereas, another 43 had focal involvement. Nine of the 43 hemispherial patients (10%) showed bilateral involvement: all of these bilateral cases demonstrated dominance in a single side with hemispheric leptomeningeal angiomatosis and contralateral focal extension. Hemispheric and focal subgroups were clinically different. Patients with hemispheric SWS were younger at the age of epilepsy onset (p < 0.001) and age at MRI examination (p < 0.05). Neither gender, lateralization, duration of epilepsy, appearance of secondarily generalized seizures, nor seizure frequency revealed a significant difference between subgroups., Conclusion: Bilateral involvement is frequent and occurs in cases with a hemisperic involvement on one side. The age of epilepsy onset is related to the extent of leptomeningeal angiomatosis. Patients with hemispheric form of SWS presented with earlier age of seizure onset. Focal pial angiomatoses do not tend to progress (a longer duration is not associated with more frequent hemispheric involvement). Other variables including seizure frequency and secondary generalized tonic-clonic seizures are not associated with the extent of angiomatosis.

Sturge-Weber syndrome (SWS) is a rare sporadic neurocutaneous syndrome defined by the association of a facial capillary malformation in the ophthalmic distribution of the trigeminal nerve, with ipsilateral vascular glaucoma and vascular malformation of the eye, and a leptomeningeal angioma. SWS is suspected at birth in the presence of facial angioma in the trigeminal nerve area. MRI with gadolinium enhancement and pondered T1, T2, FLAIR and diffusion sequences is today the technique of choice to visualize the leptomeningeal angioma or to suspect it by indirect signs, even before the development of neurological signs, from the first months of life. The prognosis of SWS with leptomeningeal angioma is related to the severity of neurological signs that are absent at birth and develop later in life (epilepsy, hemiparesis, and mental delay). Seizures are usually the presenting neurological symptom. Status epilepticus might inaugurate the epilepsy and remains frequent in infancy. Repetitive seizures are thought to increase the atrophy of brain tissue in regard to the leptomeningeal angioma. Preventive presymptomatic treatment with antiepileptic drugs is often recommended, and parents are trained to use rescue benzodiazepines in case of seizures. After epilepsy onset, in patients intractable to antiepileptic drugs, surgery should be considered., (Copyright © 2013 Elsevier B.V. All rights reserved.)