Sturge-Weber syndrome （SWS）, or encephalo- trigeminal angiomatosis, is a rare, congenitalneurocutaneous syndrome characterized by unilateral facial cutaneous vascular malformation （nevus flammeus or port-wine stain...Sturge-Weber syndrome （SWS）, or encephalo- trigeminal angiomatosis, is a rare, congenitalneurocutaneous syndrome characterized by unilateral facial cutaneous vascular malformation （nevus flammeus or port-wine stain） in association with ipsilateral leptomeningeal angiomatosis. Prevalence is approximately one per 50 000 live births. Males and females are equally affected and there is no racial bias. 1,2 The common clinical manifestations of SWS include progressive seizures, unilateral cutaneous vascular nevus following the ophthalmic divisions of the trigeminal nerve, ipsilateral glaucoma, contralateral hemiparesis, hemiatrophy, hemianopia and mental retardation. The radiographic hallmark of SWS is ＂tram-line＂ or gyriform calcifications usually involving the occipital and parietal lobes. Histologic studies have revealed that intracranial lesions of SWS display as leptomeningeal angiomatosis, and gyriform calcifications, neuronal loss, astrogliosis in underlying brain tissue.展开更多
AIM： To compare the efficacy and safety of collagen matrix implant [Ologen（OLO） implant] versus mitomycin C（MMC） with subscleral trabeculectomy（SST） for the surgical treatment of congenital glaucoma（CG） in St...AIM： To compare the efficacy and safety of collagen matrix implant [Ologen（OLO） implant] versus mitomycin C（MMC） with subscleral trabeculectomy（SST） for the surgical treatment of congenital glaucoma（CG） in SturgeWeber Syndrome（SWS）.METHODS： A prospective comparative randomized study of 20 eyes of 16 patients with CG associated with SWS was divided into two groups. The first group（MMC Group） included 10 eyes that were subjected to SST with MMC. The second group（OLO Group） included 10 eyes that were subjected to trabeculectomy with a collagen matrix implant（OLO implant）. Postoperative evaluation included intraocular pressure（IOP） level, bleb evaluation, complications, and the need for further medication or surgical intervention. RESULTS： The mean preoperative IOP was 29±3.16 mm Hg in MMC and 29.8±3.08 mm Hg in OLO eyes. Mean 12-month percentage reduction in IOP was significant in both groups（57.9% and 56.3%）. At the end of the 12 postoperative follow-up month, in the MMC Group, 80% of eyes achieved the complete success, 20% of eyes had qualified success with no failed surgery in comparison to OLO Group which 70% of eyes achieved the complete success, 20% of eyes had qualified success with 10% failed surgery. In terms of complications, the MMC Group had a higher rate of complications than the OLO Group in the form of thin polycystic bleb in 6 eyes（60%）, blebitis in only one eye（10%） treated with topical antibiotics, shallow anterior chamber in two eyes（20%）.CONCLUSION： This study proves that the use of a collagen matrix implant yields equally effective results as MMC when combined with trabeculectomy for the treatment of CG in SWS. Furthermore, OLO implantation is safe and has low incidences of complications.展开更多
Background：The location of facial port-wine stain （PWS） may be helpful for predicting some associated anomalies;high glaucoma incidence is found in patients with eyes close to PWS-affected areas （V1,ophthalmic bra...Background：The location of facial port-wine stain （PWS） may be helpful for predicting some associated anomalies;high glaucoma incidence is found in patients with eyes close to PWS-affected areas （V1,ophthalmic branch area of the trigeminal nerve）.This study aimed to investigate the characteristics of glaucoma in V1-affected PWS.Methods：A total of 569 patients with V1 area-affected PWS were reviewed in the study.The large series was based on the referral system between the Department of Plastic and Reconstructive Surgery and the Department of Ophthalmology.All patients were screened for glaucoma with assessments of intraocular pressure,cup-to-disc ratio,comeal diameter （only for infants）,and axial length.Results：Of the 569 patients,110 （19.3%） patients had glaucoma.Among the patients,18.1% （76/420） had early-onset glaucoma （under 4-year-old group）.In the 4 to 18-year-old age group,29.3% （29/99） of the patients had glaucoma.Compared with right lateral and bilateral PWS,left-sided PWS had a lower risk of glaucoma in this study （odds ratio =0.432 [95% confidence interval,0.264-0.706],P =0.01）.The under 4-year-old group showed a slight predominance of males （61.8%） in glaucoma.Conclusions：High glaucoma incidence was observed in patients with eyes close to PWS.More attention should be paid to glaucoma screening for right lateral and bilateral PWS patients.The predominance of males in Sturge-Weber syndrome （SWS） early-onset glaucoma patients might be due to the limitation of the case number;however,it might also provide us a new clue of potential relationship between SWS and PCG.展开更多
Sturge–Weber syndrome(SWS)is a rare congenital neurocutaneous disorder characterized by the simultaneous presence of both cutaneous and extracutaneous capillary malformations.SWS usually presents as a facial port-win...Sturge–Weber syndrome(SWS)is a rare congenital neurocutaneous disorder characterized by the simultaneous presence of both cutaneous and extracutaneous capillary malformations.SWS usually presents as a facial port-wine birthmark,with a varying presence of leptomeningeal capillary malformations and ocular vascular abnormalities.The latter may lead to significant neurological and ocular morbidity such as epilepsy and glaucoma.SWS is most often caused by a somatic mutation involving the G protein subunit alpha Q or G protein subunit alpha 11 gene causing various alterations in downstream signaling pathways.We specifically conducted a comprehensive review focusing on the current knowledge of clinical practices,the latest pathophysiological insights,and the potential novel therapeutic avenues they provide.Data sources A narrative,non-systematic review of the literature was conducted,combining expert opinion with a balanced review of the available literature.A search of PubMed,Google Scholar and Embase was conducted,using keywords“Sturge–Weber Syndrome”OR“SWS”,“Capillary malformations”,“G protein subunit alpha 11”OR“G protein subunit alpha Q”.Results One of the hallmark features of SWS is the presence of a port-wine birthmark at birth,and forehead involvement is most indicative for SWS.The most common ocular manifestations of SWS are glaucoma and choroidal hemangioma.Glaucoma presents in either in infancy(0–3 years of age)or later in life.Neurological complications are common in SWS,occurring in about 70%–80%of patients,with seizures being the most common one.SWS significantly impacts the quality of life for patients and their families,and requires a multidisciplinary approach for diagnosis and treatment.Currently,no disease-modifying therapies exist,and treatment is mostly focused on symptoms or complications as they arise.Conclusions SWS remains a complex and heterogeneous disorder.Further research is needed to optimize diagnostic and therapeutic strategies,and to translate insights from mo展开更多
AIM:To evaluate the efficacy of ruthenium-106 plaque brachytherapy for the treatment of diffuse choroidal hemangioma(DCH)in Sturge-Weber syndrome(SWS).METHODS:A total of 8 patients with DCH in SWS managed with plaque ...AIM:To evaluate the efficacy of ruthenium-106 plaque brachytherapy for the treatment of diffuse choroidal hemangioma(DCH)in Sturge-Weber syndrome(SWS).METHODS:A total of 8 patients with DCH in SWS managed with plaque brachytherapy were retrospectively included.Patients were treated with ruthenium-106 plaque therapy(median apex dose:83 Gy)at the thickest tumor region.On follow-up,we recorded the tumor thickness,the best-corrected visual acuity(BCVA),subretinal fluid(SRF)status,and complications following treatment.RESULTS:At a median follow-up of 43 mo,tumor regression was observed in all cases,with a complete resolution of SRF and reduction in tumor-thickness.No radiation complications were recorded during the follow up time.CONCLUSION:Ruthenium-106 plaque therapy to the thickest portion of the tumor seems to be a useful treatment in patients with DCH in SWS.展开更多
We present a case of circumscribed choroidal hemangioma (CCH) in Sturge-Weber syndrome in a 30-year-old woman with congenital port-wine stains on the left side of face involving the upper eyelid, cheek and the nose, a...We present a case of circumscribed choroidal hemangioma (CCH) in Sturge-Weber syndrome in a 30-year-old woman with congenital port-wine stains on the left side of face involving the upper eyelid, cheek and the nose, and she had undergone facial hemangioma surgery 3 years ago suggestive of Sturge-Weber syndrome. She presented with a 1-month history of rapidly decreased visual acuity (VA) to counting fingers in the left eye which had no prior history of visual problem. And there was no evidence of glaucoma. At 3 months after the treatment of the standard photodynannic therapy (PDT) the VA was 20/200. For some reasons, we have no idea about the changes of tumor thickness and subretinal fluid. We confirmed the curative effect of PDT treatment for CCH because of the significantly improved VA in the bad eye.展开更多
Background:Patients with Sturge-Weber syndrome can have ipsilateral diffuse or circumscribed choroidal hemangiomas.These hemangiomas have been seen to undergo spontaneous exudative or hemorrhagic retinal detachments.T...Background:Patients with Sturge-Weber syndrome can have ipsilateral diffuse or circumscribed choroidal hemangiomas.These hemangiomas have been seen to undergo spontaneous exudative or hemorrhagic retinal detachments.There is no definitive treatment for these types of retinal detachments,but radiotherapy,photodynamic therapy,oral propranolol,pegaptinib and bevacizumab have been used.Case presentation:A 26-year-old male with Sturge-Weber Syndrome developed an exudative retinal detachment that occurred immediately after taking a supplement containing arginine.The patient was treated with intravitreal bevacizumab 1.25 mg in 0.05 ml solution.Resolution of the retinal detachment was seen after 4 treatments over a six-month period.Conclusions:Arginine and other medications that cause a release of nitric oxide may lead to intravascular leakage and exudative retinal detachments in patients who have a choroidal hemangioma.展开更多
Sturge-Weber syndrome(SWS)is a sporadic congenital neurocutaneous disorder characterized by facial port-wine stain,glaucoma and leptomeningeal angioma.It is hypothesized that somatic mutation in GNAQ(p.R183Q),which is...Sturge-Weber syndrome(SWS)is a sporadic congenital neurocutaneous disorder characterized by facial port-wine stain,glaucoma and leptomeningeal angioma.It is hypothesized that somatic mutation in GNAQ(p.R183Q),which is associated with the disruption of vascular development,may be a possible mechanism of SWS.The neurological course of this disease may be progressive,and its major morbidity includes epilepsy,stroke-like episodes and intellectual retardation.The earlier the time point of the mutation,the severer the disease presents itself later in life.However,the relationship between SWS and epileptogenesis is still unknown.展开更多
Objective:lobectomy is an effective therapy for patients with Sturge-Weber syndrome(SWS).Perioperative complications often play a critical role for SWS patients’rehabilitation.This study aimed to explore and the fact...Objective:lobectomy is an effective therapy for patients with Sturge-Weber syndrome(SWS).Perioperative complications often play a critical role for SWS patients’rehabilitation.This study aimed to explore and the factors of perioperative complications in SWS patients.Methods:we reviewed retrospectively the clinical profile of totally 60 SWS patients who received surgically treatments in Sanbo Brain Hospital,Capital Medical University,from March 2009 to April 2018.Univariate analyses were used to identify the potential predictors of perioperative complications.Results:the average hospitalization time of 60 patients was(35.57±10.79)d.After surgery,54(90.00%)patients reached Engle I level.The most common postoperative complications were fever(83.33%),motor function damage(38.33%)and hyponatremia(55.00%).Univariate analyses revealed that mental retardation,seizure types and surgery types could be the predictive factors for postoperative complications.Conclusion:postoperative complications are common in SWS patients.Prediction of the severity can help doctors know what kind of special care SWS patients need to help them for further rehabilitation.展开更多
文摘Sturge-Weber syndrome （SWS）, or encephalo- trigeminal angiomatosis, is a rare, congenitalneurocutaneous syndrome characterized by unilateral facial cutaneous vascular malformation （nevus flammeus or port-wine stain） in association with ipsilateral leptomeningeal angiomatosis. Prevalence is approximately one per 50 000 live births. Males and females are equally affected and there is no racial bias. 1,2 The common clinical manifestations of SWS include progressive seizures, unilateral cutaneous vascular nevus following the ophthalmic divisions of the trigeminal nerve, ipsilateral glaucoma, contralateral hemiparesis, hemiatrophy, hemianopia and mental retardation. The radiographic hallmark of SWS is ＂tram-line＂ or gyriform calcifications usually involving the occipital and parietal lobes. Histologic studies have revealed that intracranial lesions of SWS display as leptomeningeal angiomatosis, and gyriform calcifications, neuronal loss, astrogliosis in underlying brain tissue.
文摘AIM： To compare the efficacy and safety of collagen matrix implant [Ologen（OLO） implant] versus mitomycin C（MMC） with subscleral trabeculectomy（SST） for the surgical treatment of congenital glaucoma（CG） in SturgeWeber Syndrome（SWS）.METHODS： A prospective comparative randomized study of 20 eyes of 16 patients with CG associated with SWS was divided into two groups. The first group（MMC Group） included 10 eyes that were subjected to SST with MMC. The second group（OLO Group） included 10 eyes that were subjected to trabeculectomy with a collagen matrix implant（OLO implant）. Postoperative evaluation included intraocular pressure（IOP） level, bleb evaluation, complications, and the need for further medication or surgical intervention. RESULTS： The mean preoperative IOP was 29±3.16 mm Hg in MMC and 29.8±3.08 mm Hg in OLO eyes. Mean 12-month percentage reduction in IOP was significant in both groups（57.9% and 56.3%）. At the end of the 12 postoperative follow-up month, in the MMC Group, 80% of eyes achieved the complete success, 20% of eyes had qualified success with no failed surgery in comparison to OLO Group which 70% of eyes achieved the complete success, 20% of eyes had qualified success with 10% failed surgery. In terms of complications, the MMC Group had a higher rate of complications than the OLO Group in the form of thin polycystic bleb in 6 eyes（60%）, blebitis in only one eye（10%） treated with topical antibiotics, shallow anterior chamber in two eyes（20%）.CONCLUSION： This study proves that the use of a collagen matrix implant yields equally effective results as MMC when combined with trabeculectomy for the treatment of CG in SWS. Furthermore, OLO implantation is safe and has low incidences of complications.
基金This study was supported by grants from the National Natural Science Foundation （No. 81670845） and the Research Foundation of Shanghai Science and Technology Committee （No. 14411960600）.
文摘Background：The location of facial port-wine stain （PWS） may be helpful for predicting some associated anomalies;high glaucoma incidence is found in patients with eyes close to PWS-affected areas （V1,ophthalmic branch area of the trigeminal nerve）.This study aimed to investigate the characteristics of glaucoma in V1-affected PWS.Methods：A total of 569 patients with V1 area-affected PWS were reviewed in the study.The large series was based on the referral system between the Department of Plastic and Reconstructive Surgery and the Department of Ophthalmology.All patients were screened for glaucoma with assessments of intraocular pressure,cup-to-disc ratio,comeal diameter （only for infants）,and axial length.Results：Of the 569 patients,110 （19.3%） patients had glaucoma.Among the patients,18.1% （76/420） had early-onset glaucoma （under 4-year-old group）.In the 4 to 18-year-old age group,29.3% （29/99） of the patients had glaucoma.Compared with right lateral and bilateral PWS,left-sided PWS had a lower risk of glaucoma in this study （odds ratio =0.432 [95% confidence interval,0.264-0.706],P =0.01）.The under 4-year-old group showed a slight predominance of males （61.8%） in glaucoma.Conclusions：High glaucoma incidence was observed in patients with eyes close to PWS.More attention should be paid to glaucoma screening for right lateral and bilateral PWS patients.The predominance of males in Sturge-Weber syndrome （SWS） early-onset glaucoma patients might be due to the limitation of the case number;however,it might also provide us a new clue of potential relationship between SWS and PCG.
文摘Sturge–Weber syndrome(SWS)is a rare congenital neurocutaneous disorder characterized by the simultaneous presence of both cutaneous and extracutaneous capillary malformations.SWS usually presents as a facial port-wine birthmark,with a varying presence of leptomeningeal capillary malformations and ocular vascular abnormalities.The latter may lead to significant neurological and ocular morbidity such as epilepsy and glaucoma.SWS is most often caused by a somatic mutation involving the G protein subunit alpha Q or G protein subunit alpha 11 gene causing various alterations in downstream signaling pathways.We specifically conducted a comprehensive review focusing on the current knowledge of clinical practices,the latest pathophysiological insights,and the potential novel therapeutic avenues they provide.Data sources A narrative,non-systematic review of the literature was conducted,combining expert opinion with a balanced review of the available literature.A search of PubMed,Google Scholar and Embase was conducted,using keywords“Sturge–Weber Syndrome”OR“SWS”,“Capillary malformations”,“G protein subunit alpha 11”OR“G protein subunit alpha Q”.Results One of the hallmark features of SWS is the presence of a port-wine birthmark at birth,and forehead involvement is most indicative for SWS.The most common ocular manifestations of SWS are glaucoma and choroidal hemangioma.Glaucoma presents in either in infancy(0–3 years of age)or later in life.Neurological complications are common in SWS,occurring in about 70%–80%of patients,with seizures being the most common one.SWS significantly impacts the quality of life for patients and their families,and requires a multidisciplinary approach for diagnosis and treatment.Currently,no disease-modifying therapies exist,and treatment is mostly focused on symptoms or complications as they arise.Conclusions SWS remains a complex and heterogeneous disorder.Further research is needed to optimize diagnostic and therapeutic strategies,and to translate insights from mo
文摘AIM:To evaluate the efficacy of ruthenium-106 plaque brachytherapy for the treatment of diffuse choroidal hemangioma(DCH)in Sturge-Weber syndrome(SWS).METHODS:A total of 8 patients with DCH in SWS managed with plaque brachytherapy were retrospectively included.Patients were treated with ruthenium-106 plaque therapy(median apex dose:83 Gy)at the thickest tumor region.On follow-up,we recorded the tumor thickness,the best-corrected visual acuity(BCVA),subretinal fluid(SRF)status,and complications following treatment.RESULTS:At a median follow-up of 43 mo,tumor regression was observed in all cases,with a complete resolution of SRF and reduction in tumor-thickness.No radiation complications were recorded during the follow up time.CONCLUSION:Ruthenium-106 plaque therapy to the thickest portion of the tumor seems to be a useful treatment in patients with DCH in SWS.
文摘We present a case of circumscribed choroidal hemangioma (CCH) in Sturge-Weber syndrome in a 30-year-old woman with congenital port-wine stains on the left side of face involving the upper eyelid, cheek and the nose, and she had undergone facial hemangioma surgery 3 years ago suggestive of Sturge-Weber syndrome. She presented with a 1-month history of rapidly decreased visual acuity (VA) to counting fingers in the left eye which had no prior history of visual problem. And there was no evidence of glaucoma. At 3 months after the treatment of the standard photodynannic therapy (PDT) the VA was 20/200. For some reasons, we have no idea about the changes of tumor thickness and subretinal fluid. We confirmed the curative effect of PDT treatment for CCH because of the significantly improved VA in the bad eye.
文摘Background:Patients with Sturge-Weber syndrome can have ipsilateral diffuse or circumscribed choroidal hemangiomas.These hemangiomas have been seen to undergo spontaneous exudative or hemorrhagic retinal detachments.There is no definitive treatment for these types of retinal detachments,but radiotherapy,photodynamic therapy,oral propranolol,pegaptinib and bevacizumab have been used.Case presentation:A 26-year-old male with Sturge-Weber Syndrome developed an exudative retinal detachment that occurred immediately after taking a supplement containing arginine.The patient was treated with intravitreal bevacizumab 1.25 mg in 0.05 ml solution.Resolution of the retinal detachment was seen after 4 treatments over a six-month period.Conclusions:Arginine and other medications that cause a release of nitric oxide may lead to intravascular leakage and exudative retinal detachments in patients who have a choroidal hemangioma.
基金supported by the National Natural Science Foundation of China (81790654,81790650)Capital Health Research and Developmentof Special (2016-1-8012).
文摘Sturge-Weber syndrome(SWS)is a sporadic congenital neurocutaneous disorder characterized by facial port-wine stain,glaucoma and leptomeningeal angioma.It is hypothesized that somatic mutation in GNAQ(p.R183Q),which is associated with the disruption of vascular development,may be a possible mechanism of SWS.The neurological course of this disease may be progressive,and its major morbidity includes epilepsy,stroke-like episodes and intellectual retardation.The earlier the time point of the mutation,the severer the disease presents itself later in life.However,the relationship between SWS and epileptogenesis is still unknown.
文摘Objective:lobectomy is an effective therapy for patients with Sturge-Weber syndrome(SWS).Perioperative complications often play a critical role for SWS patients’rehabilitation.This study aimed to explore and the factors of perioperative complications in SWS patients.Methods:we reviewed retrospectively the clinical profile of totally 60 SWS patients who received surgically treatments in Sanbo Brain Hospital,Capital Medical University,from March 2009 to April 2018.Univariate analyses were used to identify the potential predictors of perioperative complications.Results:the average hospitalization time of 60 patients was(35.57±10.79)d.After surgery,54(90.00%)patients reached Engle I level.The most common postoperative complications were fever(83.33%),motor function damage(38.33%)and hyponatremia(55.00%).Univariate analyses revealed that mental retardation,seizure types and surgery types could be the predictive factors for postoperative complications.Conclusion:postoperative complications are common in SWS patients.Prediction of the severity can help doctors know what kind of special care SWS patients need to help them for further rehabilitation.
