Sažetak sa skupa
https://doi.org/10.26800/LV-142-supp5-9
The role of imaging techniques in the diagnostics and monitoring of treatment of Sturge-Weber’s syndrome
Justyna Lipińska
; Student Scientific Society at the Department of Pediatric Radiology Lublin
Maria Kowalczuk
; Student Scientific Society at the Department of Pediatric Radiology Lublin
Marek Kurowski
; Student Scientific Society at the Department of Pediatric Radiology Lublin
Łukasz Lipiński
; Student Scientific Society at the Department of Pediatric Radiology Lublin
Magdalena Woźniak
; The Department od Pediatric Radiology Lublin
Sažetak
Sturge-Weber's syndrome (encephalotrigeminal angiomatosis) is a rare, non-hereditary syndrome of congenital abnormalities. It is one of the phakomatoses. The incidence of this syndrome is estimated at 1 in 20,000 - 50,000 live births. The cause of SWS is a somatic mutation in the GNAQ gene. A typical picture of a person suffering from SWS is a child with vascular malformation on the face - a 'port-wine stain' birthmark. Other clinical symptoms include seizures, glaucoma, headache, stroke-like transient neurological deficits, and behavior problems.
Ključne riječi
imaging techniques; phakomatoses; Sturge-Weber’s syndrome
Hrčak ID:
251600
URI
Datum izdavanja:
27.1.2021.
Posjeta: 424 *