title: Infantile spasms in the setting of Sturge-Weber syndrome.
abstract: BACKGROUND
  The prevalence and outcome of the most frequent type of epilepsy in infancy-infantile spasms (IS)-are well characterized in the setting of most neurocutaneous disorders. By contrast, still there is no study describing the natural history of IS in the setting of Sturge-Weber syndrome (SWS).
  
  
  METHODS
  Two patients with SWS and IS were identified in our series and five in the literature. The aim of study is to evaluate the clinical, electroencephalographic (EEG) and imaging features of our cases and to compare our cases with those described in the literature. IS in the setting of SWS is an uncommon but possible event (2/19 patients seen over 13 years in our institutions).
  
  
  RESULTS
  We confirmed the correlation between IS and severity of SWS cutaneous and neural (extension of leptomeningeal capillary malformation) phenotype. IS in SWS seems to be atypical both from a clinical viewpoint (they are asymmetric) and from a laboratory viewpoint (EEG is not classically hypsarrhythmic).
authors.affiliation: Department of Pediatrics, University of Catania, Catania, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Barbagallo
authors.forename: Martino
authors.initials: M
authors.lastname: Ruggieri
authors.forename: Gemma
authors.initials: G
authors.lastname: Incorpora
authors.forename: Piero
authors.initials: P
authors.lastname: Pavone
authors.forename: Caterina
authors.initials: C
authors.lastname: Nucifora
authors.forename: Alberto
authors.initials: A
authors.lastname: Spalice
authors.forename: Andrea Domenico
authors.initials: AD
authors.lastname: Praticò
authors.forename: Agata
authors.initials: A
authors.lastname: Polizzi
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Pavone
authors.forename: Paola
authors.initials: P
authors.lastname: Iannetti
mesh_terms: D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography / Q000379:methods; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012720:Severity of Illness Index; D013036:Spasms, Infantile / Q000209:etiology / Q000473:pathology* / Q000503:physiopathology; D013341:Sturge-Weber Syndrome / Q000150:complications / Q000473:pathology* / Q000503:physiopathology