Sturge-Weber Syndrome Patients Research Articles

Cannabidiol in children with treatment-resistant epilepsy with myoclonic-atonic seizures

PurposeThis multicenter study aimed to evaluate the efficacy and tolerability of add-on cannabidiol (CBD) in treatment-resistant patients with epilepsy with myoclonic-atonic seizures (EMAtS) (n = 22) and Sturge Weber syndrome (SWS) with myoclonic-atonic seizures (n = 4). MethodsPatients who met the diagnostic criteria of treatment-resistant EMAtS or SWS with myoclonic-atonic seizures were included. Cannabidiol was added in doses ranging from 8 to 40 mg/kg/day. Efficacy was assessed by comparing seizure frequency before and after initiating CBD therapy.Neurologic examinations, brain magnetic resonance imaging, repeated prolonged electroencephalography (EEG) and/or video-EEG recordings, and neurometabolic studies were performed in all patients, and genetic investigations in 15. ResultsAfter a mean follow-up of 19 months, 15/26 patients (57.7%) who received add-on CBD had a >50% seizure decrease; three (11.5%) became seizure-free. The remaining 11 patients (42.3%) had a 25–50% seizure reduction. Drop attacks, including myoclonic-atonic seizures and generalized tonic-clonic seizures, as well as atypical absences and nonconvulsive status epilepticus responded well to CBD. In SWS patients, focal motor seizures without consciousness impairment and focal non-motor seizures with consciousness impairment were recognized in two each; in three a 30% reduction of focal seizures was observed. Side effects were mild and did not lead to CBD discontinuation. ConclusionThis study evaluating the use of add-on CBD in children with EMAtS or SWS with myoclonic-atonic seizures found that 15/26 (57.7%) had a >50% seizure reduction with good tolerability; three (11.5%) became seizure-free.

Efficacy of hemoporfin-mediated photodynamic therapy in treating Sturge-Weber syndrome associated port-wine stains: A retrospective study.

Background Sturge-Weber syndrome (SWS) is a rare condition associated with a GNAQ gene mutation, which affects neural crest cells. A pulsed dye laser (PDL) is a first-line therapy for SWS, but its outcomes are worse than those in patients with port-wine stains (PWS). Photodynamic therapy (PDT) is a promising therapeutic option for PWS. However, its use for PWS associated with SWS has rarely been studied. Aims To investigate the therapeutic and adverse effects of photodynamic therapy in treating SWS-associated PWS. Methods Patients with SWS and matched patients with large size facial PWS were included in this study. Both colorimetric assessment and visual evaluation were conducted to evaluate patients' responses to treatment. Results Colorimetric assessment (blanching rate) and visual evaluation (scores of colour improvement) showed that after two PDT treatments, the SWS and PWS groups had similar treatment responses (21.2% vs. 29.8%; 3.39 vs. 3.65; P = 0.18, P = 0.37). However, there was a significant difference in efficacy between patients with SWS with and without a treatment history (12.4 and 34.9%, respectively; P = 0.02), as well as between patients with lesions located on the central and lateral faces (18.5 and 36.8%, respectively; P = 0.01). Both the SWS and PWS groups experienced minor adverse effects, and the frequency of these effects was not significantly different between the two groups. Limitation The study was limited by a small sample size and the possibility of later onset of glaucoma. In addition, false-negative magnetic resonance imaging screening results for SWS could not be ruled out due to the young age of some participants. Conclusion Photodynamic therapy is a safe and effective therapeutic option for SWS-associated PWS. Patients without a treatment history, and lesions on the lateral face, responded well, demonstrating good efficacy.

A deep insight on psychological aspect in patients with Sturge-Weber syndrome.

Studies on Sturge-Weber syndrome (SWS) have already focused on various medical aspects of this syndrome. This review is focusing on the psychological aspects of Sturge-Weber syndrome patients, the behaviors of patients, and the effects of the disease on the children. This disorder is characterized by angiomas, glaucoma, and seizures with a birthmark. Patients with this syndrome have behavioral problems, a lack of social skills, and a lack of intellectual or academic skills. These patients are usually introverted because of a lack of warmth and limited communication. Friends or classmates tease them by calling them "ugly." All this leads to a lack of social skills, and they mostly keep their feelings to themselves and prefer to be alone. Because of all this mocking by classmates, they keep isolating themselves. All this causes psychological problems in children. They start behaving differently, have suicidal tendencies, and fight with their friends who bully them. Psychological problems are mostly seen in children who are lacking in intelligence and functioning and who have seizure disorders, mostly in those who have frequent seizures. Problems like anxiety, depression, mood changes, anger, and violence are also observed in these patients. All this is always ignored by the parents as well as the doctors. This review aims to focus on the psychological aspect of the patients with SWS, to inform the parents about the behavior of their children with SWS, and to pay more attention to the psychological problems. This review is focusing on the importance of the psychological behavior of patients with SWS, how to diagnose it at an early stage, and how to treat and take care of children with SWS.

Incidence of Sturge-Weber Syndrome and Risk of Secondary Glaucoma: A Nationwide Population-based Study Using a Rare Disease Registry

To determine Sturge-Weber syndrome (SWS) incidence and secondary glaucoma risk. Nationwide retrospective cohort study. The Korean National Health Insurance (NHI) claims database from 2002 to 2019 along with the registration-program database for rare intractable diseases (ie, the rare disease registry) were accessed to identify ophthalmologist/neurologist-confirmed SWS patients. SWS incidence was estimated in a same-birth-year population (ie, a birth cohort) from 2002 to 2009. Among the SWS patients born between 2002 and 2019, the incidence of SWS-associated glaucoma was estimated. During the 18-year observational period, a total of 1049 patients were registered as SWS. The mean birth-cohort SWS incidence was 3.08 (95% CI 2.52-3.64) per 100000 people per year, with an approximate female-to-male ratio of 0.97:1. Among the 217 SWS patients born between 2002 and 2019, secondary glaucoma arose in 18 (8.3%) cases, including 12 males (66.7%). Among these 18 SWS-associated glaucoma cases, 15 (83.3%) were diagnosed before 1 year of age, and the other 3 (16.7%) between age 1 and 2 years. Among the 660 SWS patients under age 40 years during the study period, SWS-associated glaucoma was identified in 79 (12.0%) cases. Neurologic manifestations such as epilepsy, hemiparesis, and mental retardation did not significantly differ between SWS patients with and those without secondary glaucoma. This study identified birth-cohort SWS incidence and determined secondary-glaucoma risk in a population of East Asian ethnicity. These data could help to promote better understanding of the epidemiologic features of SWS patients.

Abstract TP171: Acute Magnetic Resonance Imaging Findings In Patients With Sturge Weber Syndrome

Sturge-Weber syndrome (SWS) is a neurovascular disorder characterized by facial Port-wine stain and intracranial capillary malformations. Patients can have multiple neurological complications including seizures, headaches, and stroke-like episodes, often leading to multiple hospital presentations. Published reports have shown conflicting results on whether patients with SWS with acute neurological complaints have positive imaging findings. Small case reports have described acute ischemic or hemorrhagic changes in SWS patients, whereas larger case series have not identified such imaging findings. Our aim was to report imaging findings in a cohort of SWS patients who presented with acute neurological complaints. We performed a retrospective analysis on all MRI studies performed on SWS patients presenting to our institution with acute neurological symptoms between August 1999 and July 2018. Imaging studies were initially evaluated by the radiologists on-call, and subsequently reviewed by a separate neuroradiologist to confirm the diagnoses. Only studies that were interpreted as having acute findings by both radiologists were counted as positive. During the study period, 23 patients with SWS presented to our institution with acute neurological complaints, of which 13 (56.5%) were male, median age 3 years, with 50 MRI obtained. Seizures were the most common indication for acute imaging (58%), followed by stroke-like episodes (32%), headache (6%), lethargy (2%) and vomiting (2%). Acute changes on MRI were found in 8 studies (16%), with restricted diffusion in 5 patients (of which 4 were presumed to be due to stroke and 1 due to ongoing seizure activity), brain edema in 2 patients and a subdural fluid collection in 1 patient. Of the patients with acute imaging findings, 4 presented with seizures, 3 with stroke-like episodes, and 1 with lethargy. In conclusion, SWS patients with acute neurological complaints can have acute findings on MRI consistent with stroke or other acute injuries. Imaging appears to be an important tool in the management of acute episodes in SWS patients. Restricted diffusion in SWS patients may represent venous congestion or other hemodynamic changes leading to acute injury.

Automatic image analysis of episcleral hemangioma applied to the prognosis prediction of trabeculotomy in Sturge–Weber syndrome

Sturge–Weber syndrome (SWS) is a rare neurocutaneous disorder, and it can cause eye diseases such as glaucoma. As the disease progresses, the SWS patients will not be able to see clearly what is in front of them, and the reduced quality of visual experience will cause a reduction in quality of life. In the current work, we intend to use computer vision to improve the success rate of surgery for SWS patients. Image analysis techniques were first applied to automatically classify episcleral hemangioma distribution patterns of young SWS patients, and the extracted image features were subsequently used to predict their trabeculectomy prognosis. The experimental data was the snapshot captured from high-resolution surgery video in Shanghai Ninth People’s Hospital from February 2016 to July 2017. Subsequently, we used the local entropy threshold method on the snapshot to segment episcleral vessels and realized binarization to extract the density of episcleral vessels. The two indexes viz. episcleral vessel entropy and episcleral vessel density were extracted by the feature extraction method. After obtaining the feature values, K-means unsupervised clustering was carried out, to group the two categories which were the successful operation case and the failed operation case. Based on two categories obtained by unsupervised clustering method, survival analysis was conducted to obtain the P-value. The classification result was that 21 eyes were grouped into successful operation cases and 19 eyes were grouped into failed operation cases. After survival analysis, the P-value of two groups clustered by K-means was 0.046, and this suggested there were significant differences between the successful operation case and the failed operation case. Two extracted features represented the severity of the disease as the ophthalmologists observed. The new classification of SWS patients achieved by automatic image analysis was significantly related to the trabeculotomy outcome which might provide a new approach to the prognostic prediction for SWS patients.

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

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.

Ocular Manifestations of the Sturge-Weber Syndrome.

Sturge–Weber syndrome (SWS) or encephalotrigeminal angiomatosis is a non-inherited congenital disorder characterized by neurologic, skin, and ocular abnormalities. A somatic activating mutation (R183Q) in the GNAQ gene during early embryogenesis has been recently recognized as the etiology of vascular abnormalities in SWS. Approximately, half of the patients with SWS manifest ocular involvement including glaucoma as the most common ocular abnormality followed by choroidal hemangioma (CH). The underlying pathophysiology of glaucoma in SWS has not been completely understood yet. Early onset glaucoma comprising 60% of SWS glaucoma have lower success rates after medical and surgical treatments compared with primary congenital glaucoma. Primary angle surgery is associated with modest success in the early onset SWS glaucoma while the success rate significantly decreases in late onset glaucoma. Filtration surgery is associated with a higher risk of intraoperative and postoperative choroidal effusion and suprachoroidal hemorrhage. CH is reported in 40–50% of SWS patients. The goal of treatment in patients with CH is to induce involution of the hemangioma, with reduction of subretinal and intraretinal fluid and minimal damage to the neurosensory retina. The decision for treating diffuse CHs highly depends on the patient's visual acuity, the need for glaucoma surgery, the presence of subretinal fluid (SRF), its chronicity, and the potential for visual recovery.

Choroidal alterations of Sturge-Weber syndrome secondary glaucoma and non-glaucoma port-wine stain patients distinguished by enhanced depth imaging optical coherence tomography

BackgroundTo evaluate the choroidal changes in Sturge-Weber syndrome (SWS) secondary glaucoma and non-glaucoma port-wine stain (PWS) patients by enhanced depth imaging optical coherence tomography (EDI-OCT).MethodsSWS and PWS patients who were over 3 years old and treated or screened at our ophthalmology department were included in the study. Baseline demographics, EDI-OCT and fundus photography data were collected from all patients.ResultsOverall, 46 non-glaucoma PWS (NGPWS) patients and 35 SWS secondary glaucoma (SG) patients were included, with mean ages of 16.52 ± 13.63 and 13.94 ± 8.27 years, respectively (p > 0.05). Among these patients 2 exhibited bilateral PWS and unilateral glaucoma. Thus, the two eyes of each patient were divided into NGPWS and SG group, respectively. Twenty-one eyes had choroidal hemangiomas and 7 eyes had excessive thickening of the choroid without choroidal hemangiomas. Choroidal hemangiomas were only observed in ipsilateral eyes of SG patients. The choroidal thicknesses of the ipsilateral and fellow eyes of NGPWS patients were 358.10 ± 117.40 μm (45 eyes) and 288.20 ± 79.04 μm (41 eyes), respectively (p < 0.05). The choroidal thicknesses of the ipsilateral and fellow eyes of SG patients were 511.40 ± 242.10 μm (15 eyes) and 283.90 ± 92.27 μm (29 eyes), respectively (p < 0.05). Significant differences were found between the ipsilateral eyes of SWS and PWS patients (p < 0.05). Six of 13 eyes (46%) with choroidal hemangiomas exhibited post-operative posterior segment complications.ConclusionsNGPWS and SG patients had a thicker choroid in the ipsilateral eye. The trend was even more pronounced in SG patients. Choroidal hemangiomas were only found in the ipsilateral eyes of SG. In addition, choroidal hemangioma was a risk factor for post-operative posterior segment complications in SWS patients.

Clinical and Neuroimaging Analysis of 24 Cases of Sturge-Weber Syndrome

To analyze the clinical manifestations and neuroimaging characteristics of Sturge-Weber syndrome (SWS), to describe the manifestations of facial port-wine stains (PWS) of SWS, and to explore the screening opinions for SWS. A retrospective analysis was performed on the general condition, clinical manifestations, and neuroimaging results of 24 SWS patients from the dermatology department of West China Hospital of Sichuan University between 2017 and 2019. Three different facial PWS distribution methods (traditional anatomical distribution, facial trigeminal nerve distribution, and facial embryological vasculature distribution) in SWS patients were Analysed. Among the 24 patients, 50% were male and 50% were female, with an average age of (18.9±14.0) years (range 1 to 54 years old). 12 cases were SWS type Ⅰ, and the other 12 cases were type Ⅱ. All patients had facial PWS at birth, and the facial PWS of 13 cases (54.2%) were thickened. According to the anatomical division, all the PWS involved the upper and middle face (above the oral commissure); according to the trigeminal nerve distribution, 100% (24/24) patients involve the V2 area; according to the distribution of facial embryological vasculature, 95.8% (23/24) of the patients involved frontal region. 22 patients had ophthalmic abnormalities, the most common was glaucoma (70.8%), and 4 patients had a history of epilepsy. The typical neuroimaging presentations of SWS include leptomeningeal enhancement, cortical calcification, enlarged choroid plexus, focal cerebral atrophy, abnormal intracranial vessels, and local thickening of the skull. Early intervention is recommended for facial PWS in patients with SWS , and ophthalmological screening should be performed on children with PWS found in any part of the upper and middle face after birth. Moreover, neuroimaging examination (MRI) for patients with high suspicion of SWS should be performed after 1 year old, and regular ophthalmological examination and intraocular pressure measurement is necessary.

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

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. 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 5years, mean follow-up 9.6years) 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%). 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. 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.

MON-077 A Case of Growth Hormone Deficiency in Sturge-Weber Syndrome

Introduction: Sturge-Weber syndrome (SWS) is a congenital neurocutaneous disorder characterized by a port wine stain on the skin in the distribution of the ophthalmic branch of the trigeminal nerve (vascular malformation of skin), glaucoma, and leptomeningeal angiomas. Central nervous system abnormalities may increase the risk of hypothalamic-pituitary dysfunction. One previous study showed that SWS patients had higher prevalence of growth hormone deficiency than the general population although the etiology is unclear. This case report describes a patient who was initially diagnosed with SWS and later confirmed with complete growth hormone deficiency.Case: A 7-year-and-11-month-old boy who had been diagnosed with SWS visited a tertiary center for the evaluation of short stature [111.1cm (<3 percentile)]. He was born at 37 weeks of gestational age with birth weight of 3230g by cesarean section and had a port wine nevus on the right side of the face since birth. He had a history of epilepsy first occurring at 6 months of age when he was diagnosed with SWS. There were two more attacks of seizure till 32 months of age. Brain magnetic resonance imaging revealed leptomeningeal angioma, choroidal hemangioma, and diffuse brain atrophy. He was diagnosed with glaucoma and had been managed with surgery and medication. There was no family history of SWS or any other brain anomaly. His mid-parental height was 167.7cm. All blood tests were normal including complete blood count, chemistry, and thyroid function test. Hand x-ray showed delayed bone age. Cocktail test was performed for the evaluation of short stature. As a result, he was diagnosed with complete growth hormone deficiency (peak GH on L-dopa test: 2.46 ng/mL, peak GH on glucagon test: 3.71 ng/mL). The recombinant growth hormone therapy was started at the age of 8 years and 1 month. He showed good response to GH treatment. His height became 125.8cm at the age of 9 years and 5 months (height velocity 9.2 cm/year), and 134.3cm at the age of 10 years and 6 months.Conclusion: We experienced a case with Sturge-Weber syndrome and complete growth hormone deficiency which was successfully managed by recombinant growth hormone therapy. It may be better to consider the possibility of GH deficiency even if there are certain conditions that affect the growth itself.

Episcleral hemangioma distribution patterns could be an indicator of trabeculotomy prognosis in young SWS patients.

To explore the relationships between episcleral hemangioma distribution patterns and trabeculotomy prognosis in young Sturge-Weber syndrome (SWS) patients. Sturge-Weber syndrome-induced glaucoma patients less than 4years 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. Fifty eyes (forty-six patients) of SWS were included. Mean age of surgery was 12.6±15.1months (range 1-47months). 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 12months (p=0.013) and 24months (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 0.5mm) 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). 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.

Effect of changing the analyzed image contrast on the accuracy of intracranial volume extraction using Brain Extraction Tool 2.

The aim of this study was to evaluate the effect of changing the contrast of an analyzed image on the accuracy of intracranial volume (ICV) extraction using the Brain Extraction Tool (BET2) in healthy adults and patients with Sturge-Weber syndrome (SWS), including infants. Twelve SWS patients, including infants, and 12 healthy participants were imaged on a 3.0-T magnetic resonance imaging (MRI) machine. All individuals underwent quantification of relaxation times and proton density using multi-echo acquisition of saturation recovery with turbo-spin-echo readout (QRAPMASTER). Based on the QRAPMASTER data, we created images with seven contrasts (T1-WI, T2-WI, PD-WI, T2 short-tau inversion recovery [STIR], proton density [PD] STIR, T2STIR + PDSTIR, and T1-WI + T2-WI + PD-WI) by post-processing with SyMRI software. ICVs extracted with BET2 from the FMRIB (Functional Magnetic Resonance Imaging of the Brain) Software Library with each of the seven image contrasts were compared with manually extracted ICVs, which is the gold standard reviewed by a board-certificated neuroradiologist. Manual extraction was performed on T1-WI and T2STIR. Statistical analyses were performed with Jaccard similarity coefficients (J). The highest J score was found in T1-WI + T2-WI + PD-WI in all participants (0.8451); T1-WI in healthy participants (0.8984); T2STIR in participants with SWS (0.8325). Our findings suggest that T1-WI and T2STIR should be used in ICV extraction performed using BET2 on healthy participants and infants, respectively. Additionally, if the analyzed individuals include both healthy participants and infants, T1-WI + T2-WI + PD-WI should be used.

Sturge-Weber Syndrome: A Boy with Port-wine Stain and Seizure

Neurocutaneous disorders are a heterogeneous group of genetic disorders that include Sturge-Weber syndrome (SWS), which is characterized by congenital capillary-venous malformation manifesting as port-wine stain, leptomeningeal angiomatosis and ocular angiomas. Diagnosis is made when at least two of these three areas are involved. Abnormal vessels lead to stasis and congestion resulting in decreased regional perfusion and eventually cause hypoxic brain injury with neuronal loss and gliosis. Seizures are common neurological manifestation in SWS patients and many patients have intractable seizures, eventually leading to motor deficits or developmental and cognitive delays. Here we report a case of a 16-year-old boy who presented with typical port-wine stain and seizure disorder since childhood. Neuroimaging revealed evidence of cerebral vascular malformation ipsilateral to the cutaneous lesion. Seizure was controlled with antiepileptic drugs. Early diagnosis and prompt treatment may reduce the incidence of neurologic sequelae. Proper counselling is necessary to improve compliance.

Three-dimensional Photogrammetric Analysis of Facial Soft-to-Hard Tissue Ratios After Bimaxillary Surgery in Facial Asymmetry Patients With and Without Sturge-Weber Syndrome.

Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome characterized by facial port-wine stains. Most patients with facial asymmetry due to SWS have soft and/or hard tissue hypertrophy and require both soft tissue correction and bone surgery. In our experience, because SWS patients are more likely than non-SWS patients to be dissatisfied after bone surgery because of limited soft tissue change, we compared soft tissue changes after bimaxillary surgery between facial asymmetry patients with and without SWS.All patients-5 with SWS and 5 without SWS-underwent bimaxillary surgery by a single surgeon. Soft-to-hard ratios were determined using the preoperative and postoperative vertical lengths from the intersection point between the external orbital contour laterally and the oblique orbital line (LO) to the occlusion line (OL) and the LO to the mandible angle (AG) on cephalography and the distances between the lateral canthus (LC) and oral commissure (OC) and between the LC and soft tissue gonion (Go') on 3-dimensional scanned images.The average change in the [LC-OC] to [LO-OL] ratio was 23.03% ± 10.09% in SWS patients and 88.05% ± 10.44% in non-SWS patients (P = 0.008). The average change in the [LC-Go'] to [LO-AG] ratio was 35.54% ± 15.47% in SWS patients and 78.90% ± 47.56% in non-SWS patients (P = 0.032).Soft-to-hard tissue ratios after orthognathic surgery are significantly smaller in SWS patients than in non-SWS patients. This information is important for preoperative patient counseling, managing patient expectations, enhancing results, and planning the second-stage soft tissue surgery.

Results of external beam radiotherapy for diffuse choroidal hemangiomas in Sturge-Weber syndrome.

The Sturge-Weber Syndrome (SWS) is a phacomatosis which include facial nevus flammeus, glaucoma, diffuse choroidal hemangioma, and leptomeningeal hemangiomatosis. External beam radiotherapy (EBRT) using photons was used to treat retinal detachment. We investigate the anatomical and functional results in a long-term basis. Retrospective review of SWS patients treated by EBRT (20 Gy in 10 fractions) for an exudative diffuse choroidal hemangioma. Visual acuity, B-scan tumor thickness, size of retinal detachment, intra-ocular pressure, and hypotonic treatment were collected before EBRT, 1 year after, and at the latest news. Twenty-five patients (26 eyes) were treated between 2001 and 2014. Retinal detachment including the macula was found among twenty-six eyes before treatment. The average follow-up time was 47 months. The mean tumor thickness was initially 4.5 mm, 2.8 mm at first year, and 2.7 mm at the last visit. The retina was reattached at the last visit for all eyes except two. The visual acuity was stable or better for 20 eyes (p = 0.02). Four patients developed mild cataract during the follow-up. EBRT using 20 Gy in 10 fractions is efficient, decreases tumor thickness, reattaches the retina, and stabilizes visual acuity. In the long term, retinal reattachment allows ocular conservation by preventing phthisis bulbi.

Sturge-Weber syndrome in port-wine stain patients: a retrospective study on the clinical features and screening strategy

Objective: To investigate the clinical characteristics of Sturge-Weber syndrome (SWS) in the patients with Port-wine stain (PWS). Methods: A total of 279 PWS patients, 164 males, 115 females with a median age of first visit 17.00 (4.75, 56.00) months. Most of the PWS patients were referred to the Ophthalmology Department for screening eye problems when the cutaneous angiomas involved the ophthalmic division of the trigeminal nerve distribution. The intraocular pressure (IOP), cup to disk ratio (C/D), corneal condition and other essential measurements were examined to screen glaucoma or choroidal hemangioma. The differences of age, gender and vascular ectasia in the ipsilateral eyes were compared among PWS and SWS patients with chi-square test. The differences about the first visit time, IOP, C/D and corneal diameters were evaluated with independent-sample T test or nonparametric test followed by Mann-Whitney U test. Results: A total number of 66 out of 279 PWS patients (23.7%) were confirmed as SWS with glaucoma. The IOP of the ipsilateral eye with vascular ectasia in PWS and SWS was 13.00 mmHg (1 mmHg=0.133 kPa) (IQR: 9.75, 17.00) and 23.00 mmHg (20.00, 32.00), respectively (Z=-8.212, P<0.001); the IOP differences between the ipsilateral and contralateral eye in PWS and SWS was 1mmHg (0, 2) and 7 mmHg (3, 11) respectively; the C/D in the ipsilateral eye and the contralateral eye was 0.30 (0.30, 0.35) and 0.7 (0.6, 0.8) respectively in SWS cases with secondary glaucoma. Conclusions: There is a high proportion of SWS with glaucoma in ophthalmic division affected PWS patients. Fundus examinations were necessary for this type of patients. (Chin J Ophthalmol, 2017, 53:753-757).

Early Trabeculotomy Ab Externo in Treatment of Sturge-Weber Syndrome

To evaluate the intermediate-term efficacy and safety of trabeculotomy in infant Sturge-Weber syndrome (SWS). Retrospective cohort study. All SWS-induced glaucoma patients less than 12months 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. Overall, 34 eyes (32 patients) were included, with a median surgery age of 3months and a median follow-up time of 15.5months. The mean preoperative IOP, asymmetry between 2 eyes, cornea diameter, and median C/D were 21.5 ± 6.6mm Hg, 10.1 ± 4.9mm Hg, 12.6 ± 0.7mm, and 0.65 (interquartile range [IQR]: 0.55, 0.80), respectively. The IOP was significantly reduced from the preoperative baseline at 1week, 3months, 6months, 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 3days. No other complications were noted during the follow-up. 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.

Reliability and Clinical Correlation of Transcranial Doppler Ultrasound in Sturge-Weber Syndrome

BackgroundThe reproducibility of transcranial Doppler (TCD) ultrasound measurements in Sturge-Weber syndrome (SWS) and TCD's ability to predict neurological progression is unknown. MethodsIn 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. ResultsMiddle 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). ConclusionsTCD may be a reliable measure with potential clinical value, indicating that blood flow may be globally decreased in SWS patients with unilateral brain involvement.