title: Sturge-Weber Syndrome: A Review.
abstract: Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns. It is characterized by a facial Port-wine stain, leptomeningeal angiomatosis, and glaucoma. Seizures are the most common neurological manifestation and typically present in the first months of life. Glaucoma may be present at birth or develop later. Neuroimaging studies show leptomeningeal angiomatosis, supporting diagnosis. Standard treatment for Sturge-Weber syndrome includes laser treatment for the Port-wine stain, anticonvulsants, and medical or surgical treatment for the glaucoma. Prognosis depends on the extent of leptomeningeal involvement and the severity of the glaucoma.
authors.affiliation: Servicio de Dermatología, Hospital Santa Creu i Sant Pau, Barcelona, España.
authors.forename: E
authors.initials: E
authors.lastname: Higueros
authors.affiliation: Servicio de Dermatología, Hospital Santa Creu i Sant Pau, Barcelona, España.
authors.forename: E
authors.initials: E
authors.lastname: Roe
authors.affiliation: Servicio de Radiología, Hospital Santa Creu i Sant Pau, Barcelona, España.
authors.forename: E
authors.initials: E
authors.lastname: Granell
authors.affiliation: Servicio de Dermatología, Hospital Santa Creu i Sant Pau, Barcelona, España. Electronic address: dra.baselga@gmail.com.
authors.forename: E
authors.initials: E
authors.lastname: Baselga
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D001925:Brain Damage, Chronic / Q000209:etiology / Q000517:prevention & control; D042241:Early Diagnosis; D043802:GTP-Binding Protein alpha Subunits, Gq-G11 / Q000235:genetics; D005901:Glaucoma / Q000188:drug therapy / Q000209:etiology; D006801:Humans; D054025:Lasers, Dye / Q000627:therapeutic use; D008578:Meninges / Q000098:blood supply / Q000196:embryology / Q000473:pathology; D059906:Neuroimaging; D019339:Port-Wine Stain / Q000209:etiology / Q000601:surgery; D012640:Seizures / Q000188:drug therapy / Q000209:etiology; D013341:Sturge-Weber Syndrome / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000628:therapy; D014680:Veins / Q000196:embryology
chemical_list: D000927:Anticonvulsants; C554061:GNAQ protein, human; D043802:GTP-Binding Protein alpha Subunits, Gq-G11
keywords: Angiomatosis leptomeníngea; Leptomeningeal angiomatosis; Mancha en vino de Oporto; Port-wine stain; Sturge-Weber syndrome; Síndrome de Sturge-Weber