Elena Pavlidis1, Gaetano Cantalupo2, Sara Bianchi3, Benedetta Piccolo3, Francesco Pisani3. 1. Child Neuropsychiatry Unit, Department of Neuroscience, University of Parma, Parma, Italy. Electronic address: elena.pavlidis@studenti.unipr.it. 2. Department of Life and Reproduction Sciences, University of Verona, Verona, Italy. 3. Child Neuropsychiatry Unit, Department of Neuroscience, University of Parma, Parma, Italy.
Abstract
INTRODUCTION: Cornelia de Lange syndrome is a rare genetic disease, caused by mutations in three known different genes: NIBPL (crom 5p), SMC1A (crom X) and SMC3 (crom 10q), that account for about 65% of cases. This syndrome is characterized by distinctive facial features, psychomotor delay, growth retardation since the prenatal period (second trimester of pregnancy), hands and feet abnormalities, and involvement of other organs/systems. SMC1A and SMC3 mutations are responsible for a mild phenotype of the syndrome. METHODS: We report the electroclinical features of epilepsy in a child with a mild Cornelia de Lange syndrome and furthermore we reviewed the descriptions of the epileptic findings available in the literature in patients with such syndrome. RESULTS: A large heterogeneity of the epileptic findings in the literature is reported. CONCLUSION: The presence of epilepsy could be related to pathophysiological factors independent of those implicated in the characterization of main classical phenotypic features. A more detailed description of the epileptic findings could help clinicians in the diagnosis of this syndrome in those cases lacking of the typical features.
INTRODUCTION:Cornelia de Lange syndrome is a rare genetic disease, caused by mutations in three known different genes: NIBPL (crom 5p), SMC1A (crom X) and SMC3 (crom 10q), that account for about 65% of cases. This syndrome is characterized by distinctive facial features, psychomotor delay, growth retardation since the prenatal period (second trimester of pregnancy), hands and feet abnormalities, and involvement of other organs/systems. SMC1A and SMC3 mutations are responsible for a mild phenotype of the syndrome. METHODS: We report the electroclinical features of epilepsy in a child with a mild Cornelia de Lange syndrome and furthermore we reviewed the descriptions of the epileptic findings available in the literature in patients with such syndrome. RESULTS: A large heterogeneity of the epileptic findings in the literature is reported. CONCLUSION: The presence of epilepsy could be related to pathophysiological factors independent of those implicated in the characterization of main classical phenotypic features. A more detailed description of the epileptic findings could help clinicians in the diagnosis of this syndrome in those cases lacking of the typical features.
Authors: Philippe Dillien; Susana Ferrao Santos; Vincent van Pesch; Vanessa Suin; Sophie Lamoral; Philippe Hantson Journal: Case Rep Neurol Date: 2016-06-14
Authors: Antonie D Kline; Joanna F Moss; Angelo Selicorni; Anne-Marie Bisgaard; Matthew A Deardorff; Peter M Gillett; Stacey L Ishman; Lynne M Kerr; Alex V Levin; Paul A Mulder; Feliciano J Ramos; Jolanta Wierzba; Paola Francesca Ajmone; David Axtell; Natalie Blagowidow; Anna Cereda; Antonella Costantino; Valerie Cormier-Daire; David FitzPatrick; Marco Grados; Laura Groves; Whitney Guthrie; Sylvia Huisman; Frank J Kaiser; Gerritjan Koekkoek; Mary Levis; Milena Mariani; Joseph P McCleery; Leonie A Menke; Amy Metrena; Julia O'Connor; Chris Oliver; Juan Pie; Sigrid Piening; Carol J Potter; Ana L Quaglio; Egbert Redeker; David Richman; Claudia Rigamonti; Angell Shi; Zeynep Tümer; Ingrid D C Van Balkom; Raoul C Hennekam Journal: Nat Rev Genet Date: 2018-10 Impact factor: 53.242