Results 31 to 40 of about 3,465 (171)

Sturge–Weber syndrome: Updates in pathogenesis, diagnosis, and treatment

Annals of the Child Neurology Society, 2023
Objectives We summarize the current knowledge of Sturge–Weber syndrome (SWS) including genetic involvement, difficulties in diagnosis, symptoms caused by the vascular malformations, treatments, and future areas of research.
Chelsea B. Valery, Anne M. Comi
doaj   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Bloom Syndrome Presenting With Early‐Onset Myelodysplastic Syndrome and Triple Overlapping Vascular Neurocutaneous Phenotypes: A Case Report

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Bloom syndrome is a rare autosomal recessive chromosomal instability disorder characterized by growth deficiency and early‐onset malignancies, and its coexistence with multiple vascular neurocutaneous syndromes is exceptionally uncommon. We report an 8‐year‐old girl who presented with severe growth failure and persistent pancytopenia.
Elham Shahgholi, Nahid Khosroshahi, Sara Sadeghi   +2 more
wiley   +1 more source

Surgical treatment of glaucoma with filtration bleb activation of a patient with Sturge — Weber syndrome: a clinical case

Российский офтальмологический журнал, 2022
Purpose: to describe surgical treatment of glaucoma of a patient with Sturge — Weber — Krabbe syndrome. We present a clinical case of a patient with Sturge — Weber — Krabbe syndrome who sought assistance with us due to secondary stage III glaucoma with ...
T. N. Savranova, V. U. Rozukulov, A. F. Yusupov, D. A. Asadov, S. S. Saidzhonov   +4 more
doaj   +1 more source

Triple pathology in a patient with uncontrolled epilepsy: a case report

Journal of Medical Case Reports
Background Sturge–Weber syndrome is an uncommon neurocutaneous disorder with characteristic vascular lesions, leptomeningeal angiomas, and facial nevi. Seizureis the most prevalent neurological sign of Sturge–Weber syndrome and complications related to ...
Sara Ranji, Behnam Akbari, Melika Javani, Aidin Taghilou, Abbas Tafakhori, Saeideh Salehizadeh, Hoda Naghshineh   +6 more
doaj   +1 more source

Secondary Glaucoma in Sturge–Weber Syndrome

Okulistyka
Sturge–Weber syndrome is a congenital neurocutaneous disorder involving abnormalities of blood vessels (hemangiomas) in the brain, face, and eyes. It is not hereditary or genetic, but it is present from birth.
Bożena Romanowska-Dixon, Joanna Kobylarz, Magdalena Dębicka-Kumela, Joanna Kowal, Agnieszka Nowak, Natalia Mackiewicz, Izabella Karska-Basta   +6 more
doaj   +1 more source

Intracerebral hemorrhage in Sturge Weber Syndrome: A case report [PDF]

Romanian Journal of Neurology
Background. Encephalotrigeminal angiomatosis also called Sturge Weber Syndrome (SWS) is neurocutaneous abnormality with angioma affecting the leptomeninges and the face skin, commonly in the eyes and maxillary distribution of trigeminal nerve.
Rizaldy Taslim Pinzon, I Gusti Agung Oka Pratama   +1 more
doaj   +1 more source

Familial p.(Ala73Thr) Variant in GNB2 Associated With Mild Neurodevelopmental Features and Pilocytic Astrocytoma

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Pathogenic variants in GNB2 have been associated with a neurodevelopmental disorder that includes global developmental delays and intellectual disability, hypotonia, increased risk for seizures, heart and renal anomalies, and characteristic facial features.
Megan Glassford, Caroline Jennings, Anne Slavotinek   +2 more
wiley   +1 more source

Prosthodontic and Occlusal Management of a Patient With Facial Port‐Wine Stains: A Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT This study aims to present the prosthetic rehabilitation of a patient affected by Port‐Wine Stain (PWS), a condition involving intraoral tissues that may pose challenges to removable prosthodontic treatment due to altered mucosal resiliency, pronounced hypersensitivity, and vascular fragility.
Ana‐Maria Condor, Daniela Cornelia Condor, Andreea Kui, Simona Iacob, Alexandra Tărchilă, Smaranda Buduru, Andrea Chisnoiu   +6 more
wiley   +1 more source

A case of Exudative Retinal Detachment after Fistulizing Antiglaucoma Surgery in a Patient with Sturge — Weber Syndrome

Oftalʹmologiâ
A clinical case of exudative retinal detachment after trabeculectomy for secondary glaucoma with Sturge-Weber syndrome is presented. A 50-year-old female patient with Sturge-Weber syndrome sought help for secondary glaucoma with elevated intraocular ...
S. Yu. Petrov, T. N. Kiseleva, K. A. Ramazanova, A. V. Starostina, O. I. Markelova   +4 more
doaj   +1 more source