The Incomplete Sturge-Weber
Eye, Published online: 26 April 2024; doi:10.1038/s41433-024-03082-5The Incomplete Sturge-Weber (Source: Eye)
Source: Eye - April 26, 2024 Category: Opthalmology Authors: Tanvi Gaonker Paromita Dutta Source Type: research
Sturge-Weber syndrome: an update for the pediatrician
CONCLUSIONS: SWS remains a complex and heterogeneous disorder. Further research is needed to optimize diagnostic and therapeutic strategies, and to translate insights from molecular pathogenesis to clinical practice.PMID:38658498 | DOI:10.1007/s12519-024-00809-y (Source: World Journal of Pediatrics : WJP)
Source: World Journal of Pediatrics : WJP - April 24, 2024 Category: Pediatrics Authors: Emilie Dingenen Damien Segers Hannelore De Maeseneer Dirk Van Gysel Source Type: research
Sturge-Weber syndrome: an update for the pediatrician
CONCLUSIONS: SWS remains a complex and heterogeneous disorder. Further research is needed to optimize diagnostic and therapeutic strategies, and to translate insights from molecular pathogenesis to clinical practice.PMID:38658498 | DOI:10.1007/s12519-024-00809-y (Source: World Journal of Pediatrics : WJP)
Source: World Journal of Pediatrics : WJP - April 24, 2024 Category: Pediatrics Authors: Emilie Dingenen Damien Segers Hannelore De Maeseneer Dirk Van Gysel Source Type: research
Capillary malformations
Capillary malformation (CM), or port wine birthmark, is a cutaneous congenital vascular anomaly that occurs in 0.1%–2% of newborns. Patients with a CM localized on the forehead have an increased risk of developing a neurocutaneous disorder called encephalotrigeminal angiomatosis or Sturge-Weber syndrome (SWS), with complications including seizure, developmental delay, glaucoma, and vision loss. In 2013, a groundbreaking study revealed causative activating somatic mutations in the gene (GNAQ) encoding guanine nucleotide–binding protein Q subunit α (Gαq) in CM and SWS patient tissues. In this Review, we discuss the dis...
Source: Journal of Clinical Investigation - April 15, 2024 Category: Biomedical Science Authors: Adrienne M. Hammill, Elisa Boscolo Source Type: research
Pediatric Central Nervous System Vascular Malformation : Pathological Review with Diagram
J Korean Neurosurg Soc. 2024 Mar 13. doi: 10.3340/jkns.2024.0006. Online ahead of print.ABSTRACTPediatric central nervous system (CNS) vascular malformations are a group of abnormal blood vessel formations within the brain or spinal cord in children. The most crucial point of pediatric CNS vascular malformation is that no golden standard classifications exist. In addition, there is a big gap in knowledge and the viewpoint of clinicians, radiologists, and pathologists. In addition, many genes associated with pediatric CNS vascular malformation, such as Sturge-Weber-Dimitri syndrome with guanine nucleotide-binding protein G(...
Source: Journal of Korean Neurosurgical Society - March 12, 2024 Category: Neurosurgery Authors: Se Hoon Kim Source Type: research
Neurological function and drug-refractory epilepsy in Sturge-Weber syndrome children: a retrospective analysis
Conclusion: The study explored the epileptic features of children with SWS. The results revealed that stroke-like episodes and seizure clusters are risk factors for DRE in children with SWS. The occurrence of status epilepticus impacts the neurological function of SWS children with epilepsy. Thus, long-term f ollow-up is necessary to monitor outcomes.Graphical AbstractWhat is Known:• Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder, over 75% of children with SWS experience seizures, and 30–57% develop drug-refractory epilepsy (DRE), which leads to a poor outcome.• Drug-refractory epilepsy in SWS has be...
Source: European Journal of Pediatrics - February 2, 2024 Category: Pediatrics Source Type: research
Clinical and pathologic features of Sturge-Weber syndrome in patients with refractory epilepsy
CONCLUSIONS: Calcification of leptomeningeal arteries, focal cortical dysplasia, and GNAQ alteration are common features in SWS pathology. Patients with refractory epilepsy caused by SWS can achieve satisfactory seizure control after surgery, but seizure control was compromised in patients with comorbid HS.PMID:38217527 | DOI:10.1093/ajcp/aqad174 (Source: American Journal of Clinical Pathology)
Source: American Journal of Clinical Pathology - January 13, 2024 Category: Pathology Authors: Zejun Duan Ke Xu Mingguo Xie Xiaolin Tian Xiongfei Wang Jing Feng Yuguang Guan Jian Zhou Guoming Luan Xueling Qi Dehong Lu Source Type: research
Frank's Sign: A Link Between Dermatovenerology, Cardiac Pathology, and Neurology
Acta Dermatovenerol Croat. 2023 Nov;31(2):101-102.ABSTRACTDear Editor, Although some of my colleagues may find this surprising, as a neurologist, I have noticed many connections between dermatology and neurology. Neurological and dermatological signs and symptoms are common in many clinical entities, especially in the so-called phakomatoses or neurocutaneous syndromes (Von Recklinghausen's disease type 1 and 2, Bourneville-Pringle syndrome, Sturge-Weber syndrome, Von Hippel-Lindau syndrome, Louis-Bar syndrome) (1). The terms "neurodermatitis" and "neurodermatology" also confirm the above. Inspection is the basis of every c...
Source: Atherosclerosis - November 25, 2023 Category: Cardiology Authors: Denis Čerimagić Source Type: research
Letter Regarding "Clinicopathological Analysis of Sturge-Weber Syndrome With Focal Cortical Dysplasia FCD IIIc"
Fetal Pediatr Pathol. 2023 Oct 20:1-3. doi: 10.1080/15513815.2023.2270678. Online ahead of print.NO ABSTRACTPMID:37861408 | DOI:10.1080/15513815.2023.2270678 (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - October 20, 2023 Category: Pathology Authors: T örehan Özer Yonca Anik Source Type: research
