title: [Sturge-Weber syndrome -clinical and neuroimaging variability].
abstract: Sturge Weber Syndrome is a rare neurocutaneous syndrome in which the severity is determined by degree of brain involvement and control of epilepsy. The authors describe and analyse clinical and imaging features of this syndrome, through a retrospective study of 13 patients (8 girls; aged between 15 days and 9 years at first visit). Twelve had facial angioma and one had atrichia corresponding to the area of brain involvement. Epilepsy was diagnosed in 6 cases, hemiplegia in 4, psychomotor delay in 7, and glaucoma in 4. Cerebral abnormalities were found in 10 children, 3 without neurological symptoms. The clinical signs and symptoms vary and there is not always a relationship between the severity of the clinical and neuroimaging abnormalities, which may occur even in the absence of neurological symptoms.
authors: Servicio de Neuropediatría, Centro Hospitalar do Porto, Oporto, Portugal. martariospinho@gmail.com
authors: M
authors: M
authors: Rios
authors: C
authors: C
authors: Barbot
authors: P S
authors: PS
authors: Pinto
authors: L
authors: L
authors: Salício
authors: M
authors: M
authors: Santos
authors: I
authors: I
authors: Carrilho
authors: T
authors: T
authors: Temudo
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D059906:Neuroimaging; D012189:Retrospective Studies; D013341:Sturge-Weber Syndrome / Q000150:complications / Q000175:diagnosis*