Recent Developments Concerning Sturge-Weber Syndrome
DOI:
https://doi.org/10.48047/zyhcya76Keywords:
Sturge-Weber Syndrome, cannabidiol, Sirolimus, Electroencephalography, health risk and port-wine-birthmarksAbstract
Sturge-Weber-Syndrome (SWS) is an uncommon, non-genetic neuro-vascular disorder
considered by nonstandard blood vessel development in the eye, skin and brain. People with SWS often
present with dermal capillary malformations, recognized as port-wine-birthmarks (PWBs), along with
leptomeningeal 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 for
venous 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. Current
retroactive studies recommend that low dose aspirin and Vitamin-D are effective treatments for
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