Current situation and influencing factors of disease uncertainty in parents of children with Sturge ‒Weber syndrome: a retrospective study
Sturge Weber syndrome (SWS), can cause extensive capillary malformations on the face, head, trunk, and other parts of the body, and the eyes can also suffer optic nerve injury. Secondary glaucoma can cause bli... (Source: BMC Pediatrics)
Source: BMC Pediatrics - February 7, 2023 Category: Pediatrics Authors: Na Du, Yue Wu, Shanshan Xiong, Hong Ji, Lulu Huang, Wenyi Guo and Changjuan Zeng Tags: Research Source Type: research

Clinicopathological Analysis of Sturge-Weber Syndrome with Focal Cortical Dysplasia FCD IIIc
Conclusion: SWS may be accompanied by FCD IIIc. The more extensive the cerebral lobes of leptomeningeal angiomatosis in SWS, the more pronounced the brain atrophy.PMID:36734681 | DOI:10.1080/15513815.2023.2171749 (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - February 3, 2023 Category: Pathology Authors: Juan Cao Guocheng Yang Shoujun Xu Pengyue Tang Yue Wang Yingying Shan Yongxian Chen Peng He Source Type: research

Outcomes of Microcatheter-assisted Trabeculotomy for Glaucoma Associated with Sturge-Weber Syndrome and Phakomatosis Pigmentovascularis
Phakomatoses are a group of rare multisystem disorders characterized by neurocutaneous and ophthalmic manifestations. Although the ocular findings vary, glaucoma and subsequent vision loss are frequently seen in many cases. Sturge-Weber syndrome (SWS) and phakomatosis pigmentovascularis (PPV) are 2 major types of phakomatoses causing glaucoma.1 (Source: American Journal of Ophthalmology)
Source: American Journal of Ophthalmology - December 10, 2022 Category: Opthalmology Authors: Man Hu, Tianwei Liang, Fei Leng, Bin Zhang, Yongli Xu, Zeng hui, Li Li, Huaizhou Wang Tags: Original Articles Source Type: research

Deep venous remodeling in unilateral Sturge-Weber syndrome: Robust hemispheric differences and clinical correlates
Enlarged deep medullary veins (EDMVs) in patients with Sturge-Weber syndrome (SWS) occur during the early disease course and may provide compensatory venous drainage for brain regions affected by the leptomeningeal venous malformation (LVM). We evaluated the prevalence, extent, hemispheric differences, and clinical correlates of EDMVs in SWS. (Source: Pediatric Neurology)
Source: Pediatric Neurology - November 24, 2022 Category: Neurology Authors: Csaba Juh ász, Aimee F. Luat, Michael E. Behen, Nore Gjolaj, Jeong-Won Jeong, Harry T. Chugani, Ajay Kumar Tags: Research Paper Source Type: research

Cannabidiol Treatment for Neurological, Cognitive, and Psychiatric Symptoms in Sturge-Weber Syndrome
A prior drug trial of cannabidiol for treatment-resistant epilepsy in patients with Sturge-Weber syndrome (SWS), a rare neurovascular condition, implicated improvements in neurological, quality of life (QOL), neuropsychologic, psychiatric, and motor outcomes. (Source: Pediatric Neurology)
Source: Pediatric Neurology - November 11, 2022 Category: Neurology Authors: Lindsay F. Smegal, Pooja Vedmurthy, Matthew Ryan, Melissa Eagen, Nicole Whiston Andrejow, Kristie Sweeney, Teressa Garcia Reidy, SangEun Yeom, Doris D. Lin, Stacy J. Suskauer, Luther G. Kalb, Jay A. Salpekar, T. Andrew Zabel, Anne M. Comi Tags: Research Paper Source Type: research

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. (Source: American Journal of Ophthalmology)
Source: American Journal of Ophthalmology - November 11, 2022 Category: Opthalmology Authors: Ahnul Ha, Su Hwan Kim, Sung Uk Baek, Jin-Soo Kim, Hyung-Jin Yoon, Young Kook Kim Tags: Original Articles Source Type: research

Cannabidiol Treatment for Neurologic, Cognitive, and Psychiatric Symptoms in Sturge-Weber syndrome
A prior drug trial of cannabidiol for treatment- resistant epilepsy in patients with Sturge-Weber syndrome, a rare neurovascular condition, implicated improvements in neurologic, quality of life, neuropsychological, psychiatric, and motor outcomes. (Source: Pediatric Neurology)
Source: Pediatric Neurology - November 11, 2022 Category: Neurology Authors: Lindsay F. Smegal, Pooja Vedmurthy, Matthew Ryan, Melissa Eagen, Nicole Whiston Andrejow, Kristie Sweeney, Teressa Garcia Reidy, SangEun Yeom, Doris D. Lin, Stacy J. Suskauer, Luther G. Kalb, Jay A. Salpekar, T. Andrew Zabel, Anne M. Comi Tags: Research Paper Source Type: research

GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models
Port-wine birthmarks (PWBs) are caused by somatic, mosaic mutations in the G protein guanine nucleotide binding protein alpha subunit q (GNAQ) and are characterized by the formation of dilated, dysfunctional blood vessels in the dermis, eyes, and/or brain. Cutaneous PWBs can be treated by current dermatologic therapy, like laser intervention, to lighten the lesions and diminish nodules that occur in the lesion. Involvement of the eyes and/or brain can result in serious complications and this variation is termed Sturge-Weber syndrome (SWS). Some of the biggest hurdles preventing development of new therapeutics are unanswere...
Source: Frontiers in Human Neuroscience - November 3, 2022 Category: Neuroscience Source Type: research

Lobular capillary haemangioma occurring over port-wine stain in a patient of sturge-weber syndrome: A case report
A Ramesh, V Sampath, Rajkumar Kannan, Samuel J Daniel, LB Ajith Kumar, P DeepavarshiniIndian Journal of Dermatology 2022 67(4):481-481 (Source: Indian Journal of Dermatology)
Source: Indian Journal of Dermatology - November 2, 2022 Category: Dermatology Authors: A Ramesh V Sampath Rajkumar Kannan Samuel J Daniel LB Ajith Kumar P Deepavarshini Source Type: research

GSE189023 Development of a Mouse Model of Sturge-Weber Syndrome and Therapeutic Response to Imatinib
Contributors : Maiko Sasaki ; Yoonhee Jung ; Paula North ; Justin Elsey ; Keith Choate ; M A Toussaint ; Rakan R Radi ; Adam J Perricone ; Victor Corces ; Jack L ArbiserSeries Type : Genome binding/occupancy profiling by high throughput sequencingOrganism : Mus musculusSturge-Weber Syndrome (SWS) is a common vascular malformation caused by mutation of GNAQ in endothelial cells. No effective medical therapy exists for SWS, and therapy is mainly surgical. Progress in the medical treatment of SWS has been hindered by the lack of an animal model. We introduced mutant GNAQ into an immortalized murine endothelial cell line...
Source: GEO: Gene Expression Omnibus - October 31, 2022 Category: Genetics & Stem Cells Tags: Genome binding/occupancy profiling by high throughput sequencing Mus musculus Source Type: research