Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
Anna FettaFrancesco ToniIlaria PettenuzzoEmilia RicciAlessandro RoccaCaterina GambiLuca SolianiVeronica Di PisaSilvia MartiniGiacomo SpertiValeria CagnazzoPatrizia AccorsiEmanuele BartoliniDomenica BattagliaPia BernardoMaria Paola CaneviniAnna Rita FerrariLucio GiordanoChiara LocatelliMargherita MancardiAlessandro OrsiniTommaso PippucciDario PrunaAnna RosatiAgnese SuppiejSara TaglianiAlessandro VaisfeldAglaia VignoliKosuke IzumiIan KrantzDuccio Maria CordelliPublished in: Orphanet journal of rare diseases (2024)
Brain abnormalities are very common in PKS and occur much more frequently than previously reported. Bilateral perisylvian polymicrogyria was a main aspect of our population. Our findings provide an additional tool for early diagnosis.Further studies to investigate the possible correlations with both genotype and phenotype may help to define the etiopathogenesis of the neurologic phenotype of this syndrome.