Year: 2025
Type: article
Abstract: Sturge-Weber-Syndrome (SWS) is an uncommon, non-genetic neuro-vascular disorderconsidered by nonstandard blood vessel development in the eye, skin and brain. People with SWS oftenpresent with dermal capillary malformations, recognized as port-wine-birthmarks (PWBs), along withleptomeningeal vascular malformations visible on contrast-enhanced MRI, abnormal eye blood vessels,health risk and glaucoma. Those affected experience reduced brain blood flow, increasing their risk forvenous stroke, stroke-like episodes, seizures, as well as mechanical and rational impairments. The R183-Q GNAQ somatic mutation, which activates this gene, is the most communal mutation linked to SWS;however, new exploration also points to somatic mutations in GNA11 and GNB2 as contributors. Currentretroactive studies recommend that low dose aspirin and Vitamin-D are effective treatments for
Source: Cuestiones de Fisioterapia
DOI: 10.48047/zyhcya76
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4408040236