title: Scrutinizing brain magnetic resonance imaging patterns in Angelman syndrome.
abstract: BACKGROUND
  Global developmental delay, lack of speech, and severe epilepsy are the characteristic hallmarks of Angelman syndrome (AS). The purpose of this study was to explore the utility of brain magnetic resonance imaging (MRI) as an ancillary tool for the diagnosis of AS.
  
  
  METHODS
  Brain MRI images of nine laboratory-confirmed patients with AS from a neurorehabilitation center in Rio de Janeiro were reviewed. Each MRI was assessed by a set of two experienced neuroradiologists following a predefined protocol.
  
  
  RESULTS
  The main neuroimaging findings revealed in our study were: Thinning of the corpus callosum in five patients; enlargement of lateral ventricles in four patients; and, cerebral atrophy with frontal and temporal predominance in one patient. All patients presented with an increased signal intensity in T2-weighted images and fluid-attenuated inversion recovery (FLAIR) sequences.
  
  
  CONCLUSIONS
  The lack of specific changes in the brain MRI of children with AS observed in this case series rendered brain MRI a less helpful complementary test. Thus, a definitive diagnosis of AS could only be established on molecular biology that was undertaken based on the clinical suspicion of AS.
authors.affiliation: Department of Developmental Pediatrics, The SARAH Network of Rehabilitation Hospitals - SARAH International Center for Neurorehabilitation and Neuroscience, Brazil.
authors.forename: Marcio
authors.initials: M
authors.lastname: Leyser
authors.forename: Marcia de Castro Diniz
authors.initials: Mde C
authors.lastname: Gonsalvez
authors.forename: Pedro Erthal de Souza
authors.initials: PE
authors.lastname: Vianna
authors.forename: Paulo Andre
authors.initials: PA
authors.lastname: Fernandes
authors.forename: Ricardo Silva
authors.initials: RS
authors.lastname: Carvalho
authors.forename: Marcio Moacyr
authors.initials: MM
authors.lastname: Vasconcelos
authors.forename: Osvaldo Jm
authors.initials: OJ
authors.lastname: Nascimento
mesh_terms: D017204:Angelman Syndrome / Q000000981:diagnostic imaging*; D002648:Child; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D006801:Humans; D008279:Magnetic Resonance Imaging; D059906:Neuroimaging