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

Epileptic features in Cornelia de Lange syndrome: Case report and literature review / Pavlidis, Elena; Cantalupo, Gaetano; Bianchi, Sara; Piccolo, Benedetta; Pisani, Francesco. - In: BRAIN & DEVELOPMENT. - ISSN 0387-7604. - 36:10(2014), pp. 837-843. [10.1016/j.braindev.2013.12.008]

Epileptic features in Cornelia de Lange syndrome: Case report and literature review

PAVLIDIS, Elena;CANTALUPO, Gaetano;BIANCHI, Sara;PICCOLO, Benedetta;PISANI, Francesco
2014

Abstract

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
Epileptic features in Cornelia de Lange syndrome: Case report and literature review / Pavlidis, Elena; Cantalupo, Gaetano; Bianchi, Sara; Piccolo, Benedetta; Pisani, Francesco. - In: BRAIN & DEVELOPMENT. - ISSN 0387-7604. - 36:10(2014), pp. 837-843. [10.1016/j.braindev.2013.12.008]
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11381/2803742
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