Sturge Weber

Objective: To analyze the disease composition and primary surgical procedures in pediatric inpatients with secondary glaucoma. Methods: A retrospective case series study was conducted. Clinical data of children aged≤16 years with secondary glaucoma who were admitted to the Zhongshan Ophthalmic Center, Sun Yat-sen University, between January 1, 2017, and December 31, 2021, were included. The patients were classified according to the Childhood Glaucoma Research Network (CGRN) classification system, and their diagnoses, underlying factors, gender, age of onset, affected eye(s), age and type of initial surgery, and ophthalmic examination data were analyzed...

BACKGROUND: Somatic mutations of cancer driver genes are found to be responsible for vascular malformations with clinical manifestations ranging from cutaneous birthmarks to life-threatening systemic anomalies. Till now, only a limited number of cases and mutations were reported in Chinese population. The purpose of this study was to describe the somatic mutation spectrum of a cohort of Chinese pediatrics with vascular malformations. METHODS: Pediatrics diagnosed with various vascular malformations were collected between May 2019 and October 2020 from Beijing Children's Hospital...

Episcleral vasculature malformation is a significant feature of Sturge-Weber syndrome (SWS) secondary glaucoma, the density and diameter of which are correlated with increased intraocular pressure. We previously reported that the GNAQ R183Q somatic mutation was located in the SWS episclera. However, the mechanism by which GNAQ R183Q leads to episcleral vascular malformation remains poorly understood. In this study, we investigated the correlation between GNAQ R183Q and episcleral vascular malformation via surgical specimens, human umbilical vein endothelial cells (HUVECs), and the HUVEC cell line EA...

A 38-year-old patient presented with decreased vision and was found to have right sided facial port-wine stain, telangiectasia of episcleral vessels, and posterior subcapsular cataract. Both eyes showed bone-spicule pigmentation throughout the fundus with arteriolar attenuation. He had a history of seizures and computed tomography (CT) scan of the brain revealed occipital lobe calcifications. This case describes an uncommon occurrence of rod cone dystrophy in a patient with Sturge Weber syndrome.

No abstract text is available yet for this article.

BACKGROUND: Port-wine stains (PWS) are congenital low-flow vascular malformations of the skin. PWS tend to become thicker and darker with time. Laser therapy is the gold standard and the first-line therapy for treating PWS. However, some resistant PWS, or PWS that have tissue hypertrophy, do not respond to this therapy. Our aim is to evaluate the role of surgery in the treatment of PWS birthmarks. METHODS: A literature search was performed in PubMed, Scopus, Web of Science (WOS) and Google Scholar for all papers dealing with surgery for port-wine stains, from January 2010 to December 2020 using the search strings: (capillary vascular malformation OR port-wine stains OR Sturge Weber Syndrome OR sws OR pws) AND (surgical OR surgery)...

OBJECTIVE: Administrative codes to identify people with rare epilepsies in electronic health records are limited. The current study evaluated the use of keyword search as an alternative method for rare epilepsy cohort creation using electronic health records data. METHODS: Data included clinical notes from encounters with ICD-9 codes for seizures, epilepsy, and/or convulsions during 2010-2014 across six healthcare systems in New York City. We identified cases with rare epilepsies by searching clinical notes for keywords associated with 33 rare epilepsies...

PURPOSE: To report on the venous abnormalities of a patient with Sturge-Weber syndrome (SWS). METHOD: Case report. PATIENT: A 29-year-old woman with a history of SWS since infancy was referred for evaluation of possible diffuse choroidal hemangioma. Multimodal imaging, including ultra-widefield fluorescein, indocyanine green, and optical coherence tomography-angiography (OCTA) were performed. RESULTS: Dilated fundus examination was remarkable for increased cupping of the optic disc in the right eye, venous tortuosity, and marked dilation of the choroidal vessels...

OBJECTIVES: The current gold standard treatment for port-wine stains (PWS) is pulsed dye laser (PDL). However, multiple treatment sessions may be necessary and complete resolution is often not achieved. Neoangiogenesis can occur soon after treatment and is thought to be a major factor contributing to treatment failure. Adjuvant antiangiogenic topical therapies may therefore improve the efficacy of pulsed dye laser treatment of port-wine stains. MATERIAL AND METHODS: Following PRISMA guidelines, we searched PubMed, Embase, Web of Science, and clinicaltrials...

BACKGROUND: Sturge-Weber syndrome is a nonhereditary congenital neurocutaneous syndrome characterized by a distinctive facial capillary malformation,neurological abnormalities, and ocular abnormalities such as glaucoma and choroidal hemangioma.It can be divided into different subtypes according to different clinical manifestations. It is rare for a patient to present with isolated difuse choroidal hemangioma and ipsilateral abnormal conjunctival and episcleral vessels without other systemic symptoms...

INTRODUCTION: A serous retinal detachment is one of the most likely ocular manifestation of Sturge-Weber syndrome (SWS). This finding can frequently occur as a complication after filtering surgery to maintain the intraocular pressure (IOP). Proper treatment has been approached with choroidal hemangioma as an organ target. To the best of our knowledge, various treatments for SRD are associated with diffuse choroidal hemangioma has been approached. However, a second retinal detachment following radiation therapy has worsened the situation...

No abstract text is available yet for this article.

OBJECTIVE: Patients with Sturge-Weber Syndrome (SWS) experience varying degrees of neurological problems - including epilepsy, hemiparesis, learning disability (LD), and stroke-like episodes. While the range of clinical problems experienced by children with SWS is well recognized, the spectrum of clinical presentation and its treatment during adulthood has been relatively neglected in the literature to date. This study explored the natural history of epileptic and nonepileptic seizures into adulthood in patients with SWS, and their treatment, and investigated whether any clinical factors predict which symptoms a patient will experience during adulthood...

INTRODUCTION: The aim of the study was to evaluate the efficacy and safety of combined trabeculotomy-non-penetrating deep sclerectomy (CTNS) in the treatment of Sturge-Weber syndrome (SWS) secondary glaucoma. METHODS: This retrospective study reviewed cases that underwent CTNS as initial surgery for SWS secondary glaucoma at our Ophthalmology Department center from April 2019 to August 2020. Surgical success was defined as an intraocular pressure (IOP) ≤ 21 mm Hg with (qualified success) or without (complete success) the use of anti-glaucoma medications...

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...

INTRODUCTION: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases (MOCND) at a Portuguese pediatric tertiary hospital; 2) to share our institutional experience focusing on the most common conditions, neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC); 3) to analyze the advantages of a multidisciplinary center and approach in NCS...

In automated analyses of brain morphometry, skull stripping or brain extraction is a critical first step because it provides accurate spatial registration and signal-intensity normalization. Therefore, it is imperative to develop an ideal skull-stripping method in the field of brain image analysis. Previous reports have shown that convolutional neural network (CNN) method is better at skull stripping than non-CNN methods. We aimed to evaluate the accuracy of skull stripping in a single-contrast CNN model using eight-contrast magnetic resonance (MR) images...

Ossifying fibroma is a nonneoplastic developmental disease of osseous tissue seen rarely in association with Sturge-Weber syndrome. It is a lesion of unknown aetiology, uncertain pathogenesis, and diverse histopathology. The aim of this study is to report an unusual case of in a 11-year-old male of SWS. The rarity of the case and the fact that ossifying fibroma may be associated with Sturge-Weber syndrome propelled us to report it. Physical examination showed facial asymmetry (due to hemifacial swelling) without any tenderness, fluctuation, ocular pain, or ophthalmoplegia...

Tuberous sclerosis (TS) is a multisystem neurocutaneous disorder with an autosomal dominant pattern of inheritance. It is characterized by hamartomas that damage the skin, kidneys, lungs, heart, and central nervous system, among other organs. Rhabdomyomas, benign tumors of aberrant myocytes, are common in affected patients at birth. Depending on their size and location, these lesions might create valvopathies, which can cause heart failure or malignant arrhythmias, or they can cause obstruction of the outlet or inlet tract...

AIM: To describe a unique finding in a patient with Sturge-Weber syndrome (SWS) accompanied by glaucoma. BACKGROUND: Cases with SWS may have an associated choroidal angioma and glaucoma. The localized retinal nerve fiber layer (RNFL) defects induced by the associated glaucoma are better detected against the red background of the associated choroidal angioma. CASE DESCRIPTION: A 15-year-old boy was presented with left-side SWS. The case was subjected to full clinical examination, intraocular pressure (IOP) measurements, color fundus photography, ultrasonography, visual field assessment, and optical coherence tomography (OCT) of the peripapillary RNFL and ganglion cell layer (GCC) analysis...