Isolated diffuse choroidal hemangioma without systemic symptoms: a case report
Sturge-Weber syndrome is a nonhereditary congenital neurocutaneous syndrome characterized by a distinctive facial capillary malformation,neurological abnormalities, and ocular abnormalities such as glaucoma an... (Source: BMC Ophthalmology)
Source: BMC Ophthalmology - July 6, 2023 Category: Opthalmology Authors: Xiaohua Zhang, Yongping Hu, Di Li, Xiaoxiao Qian, Yongning Xu, Man Guo and Qihang Li Tags: Case report Source Type: research
The natural history of epilepsy and nonepileptic seizures in Sturge-Weber syndrome: A retrospective case-note review
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.METHODS: A retrospective case-note review of a cohort of 26 adults with SWS at the National Hospital for Neurology and Neurosurgery (NHNN). Childhood data were also recorded, where available, to enable review of change/development of symptoms over time.RESULTS: The course of epilepsy showed some improvement in adulthood - seventeen adults continued to have seizures, while six pa...
Source: Epilepsy and Behaviour - June 22, 2023 Category: Neurology Authors: Rhian Male Sofia H Eriksson Source Type: research
The natural history of epilepsy and nonepileptic seizures in Sturge-Weber syndrome: A retrospective case-note review
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.METHODS: A retrospective case-note review of a cohort of 26 adults with SWS at the National Hospital for Neurology and Neurosurgery (NHNN). Childhood data were also recorded, where available, to enable review of change/development of symptoms over time.RESULTS: The course of epilepsy showed some improvement in adulthood - seventeen adults continued to have seizures, while six pa...
Source: Epilepsy and Behaviour - June 22, 2023 Category: Neurology Authors: Rhian Male Sofia H Eriksson Source Type: research
Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-year Experience of a Pediatric Tertiary Hospital in Portugal
CONCLUSION: Offering a systematic and multidisciplinary approach to NCS patients enables timely diagnosis, promotes a structured follow-up, and encourages discussion to outline management plans for optimal care to every patient, with significant impact on the quality of life of patients and families.PMID:37294265 | DOI:10.20344/amp.19063 (Source: Acta Medica Portuguesa)
Source: Acta Medica Portuguesa - June 9, 2023 Category: General Medicine Authors: Mafalda Rebelo Telma Francisco Ros ário Perry da Câmara Andreia Pereira Amets Iraneta Marta Amorim Maria Jo ão Paiva Lopes Rita Lopes da Silva Ana Isabel Cordeiro Source Type: research
Accuracy of skull stripping in a single-contrast convolutional neural network model using eight-contrast magnetic resonance images
In conclusion, PD-WI, PSIR, and PD-STIR should be used instead of T1-WI for skull stripping in the CNN models.PMID:37291372 | DOI:10.1007/s12194-023-00728-z (Source: Health Physics)
Source: Health Physics - June 8, 2023 Category: Physics Authors: Masami Goto Yujiro Otsuka Akifumi Hagiwara Shohei Fujita Masaaki Hori Koji Kamagata Shigeki Aoki Osamu Abe Hajime Sakamoto Yasuaki Sakano Shinsuke Kyogoku Hiroyuki Daida Source Type: research
Cannabidiol in children with treatment-resistant epilepsy with myoclonic-atonic seizures
CONCLUSION: This 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.PMID:37182500 | DOI:10.1016/j.yebeh.2023.109245 (Source: Epilepsy and Behaviour)
Source: Epilepsy and Behaviour - May 14, 2023 Category: Neurology Authors: Roberto H Caraballo Gabriela Reyes Valenzuela Sebastian Fortini Alberto Espeche Beatriz Gamboni Walter Silva Marco Semprino Lorena Fasulo Santiago Chac ón Adolfo Gallo Santiago Galicchio Pedro Cachia Source Type: research
Cannabidiol in children with treatment-resistant epilepsy with myoclonic-atonic seizures
CONCLUSION: This 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.PMID:37182500 | DOI:10.1016/j.yebeh.2023.109245 (Source: Epilepsy and Behaviour)
Source: Epilepsy and Behaviour - May 14, 2023 Category: Neurology Authors: Roberto H Caraballo Gabriela Reyes Valenzuela Sebastian Fortini Alberto Espeche Beatriz Gamboni Walter Silva Marco Semprino Lorena Fasulo Santiago Chac ón Adolfo Gallo Santiago Galicchio Pedro Cachia Source Type: research
Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - April 24, 2023 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
808 Seizures in Sturge-Weber syndrome are associated with disrupted calcium metabolism
Mosaic mutations in genes GNAQ or GNA11 lead to a spectrum of diseases including Sturge-Weber syndrome. Progressive post-natal neurological deterioration led us to seek biologically-targeted therapeutics, and neurovascular calcification to hypothesise that calcium metabolism was pathogenetically central. Calcium signaling was assessed in two cell models expressing GNAQ(c.548G>A,p.(R183Q)) and GNA11(c.547C>T,p.(R183C)). We designed mutant-allele-specific siRNAs and employed these and CRAC channel inhibitor CM4260 to test the biological pathways. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 17, 2023 Category: Dermatology Authors: D. Zecchin, N. Knoepfel, A.K. Gluck, M. Stevenson, H. Richardson, S. Polubothu, A. Inoue, K. Lines, A. Chesover, T. Jacques, F. Hannan, U. Loebel, R. Semple, R.V. Thakker, V.A. Kinsler Source Type: research
Seizure Outcomes in children with Sturge-Weber syndrome undergoing epilepsy surgery: An Individual Participant Data Meta-Analysis
Sturge-Weber Syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a rare neurocutaneous syndrome caused by a somatic mutation in the GNAQ gene [1]. The incidence of SWS is 1:50,000, and it affects both sexes equally [2]. The characteristic hallmarks of the disease include 1) unilateral facial nevus, 2) dural and leptomeningeal angiomatosis, 3) hemangiomas of the choroid, and 4) congenital glaucoma [3,4]. However, these findings may not always be present in patients; and although often viewed as a single pathologic entity, SWS was recently subdivided to three types: Type I comprises facial and leptomeningeal a...
Source: Seizure: European Journal of Epilepsy - March 15, 2023 Category: Neurology Authors: Khashayar Mozaffari, Asha Krishnakumar, Jia-Shu Chen, Keshav Goel, Andrew Wang, Nathan A. Shlobin, Alexander G. Weil, Aria Fallah Tags: Review Source Type: research
