Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report

Stefano Parravicini; Ludovica Pasca; Martina Paola Zanaboni; Costanza Varesio; Elisa Rognone; Martina Totaro; Simone Gana; Elena Rossi; Valentina De Giorgis

doi:10.1055/s-0041-1726281

Journal of Pediatric Genetics, Inhaltsverzeichnis

J Pediatr Genet 2023; 12(03): 219-223
DOI: 10.1055/s-0041-1726281

Case Report

Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report

Stefano Parravicini

¹Department of Child Neurology and Psychiatry, IRCSS Mondino Foundation, European Reference Network for Rare and Complex Epilepsies, EpiCARE, Pavia, Italy

²Brain and Behaviour Department, University of Pavia, Pavia, Italy

,

Ludovica Pasca

¹Department of Child Neurology and Psychiatry, IRCSS Mondino Foundation, European Reference Network for Rare and Complex Epilepsies, EpiCARE, Pavia, Italy

²Brain and Behaviour Department, University of Pavia, Pavia, Italy

,

Martina Paola Zanaboni

¹Department of Child Neurology and Psychiatry, IRCSS Mondino Foundation, European Reference Network for Rare and Complex Epilepsies, EpiCARE, Pavia, Italy

,

Costanza Varesio

¹Department of Child Neurology and Psychiatry, IRCSS Mondino Foundation, European Reference Network for Rare and Complex Epilepsies, EpiCARE, Pavia, Italy

²Brain and Behaviour Department, University of Pavia, Pavia, Italy

,

Elisa Rognone

³Department of Neuroradiology, IRCSS Mondino Foundation, Pavia, Italy

,

Martina Totaro

¹Department of Child Neurology and Psychiatry, IRCSS Mondino Foundation, European Reference Network for Rare and Complex Epilepsies, EpiCARE, Pavia, Italy

²Brain and Behaviour Department, University of Pavia, Pavia, Italy

,

Simone Gana

⁴Medical Genetics, IRCCS Mondino Foundation, Pavia, Italy

,

Elena Rossi

⁴Medical Genetics, IRCCS Mondino Foundation, Pavia, Italy

⁵Department of Molecular Medicine, University of Pavia, Pavia, Italy

,

Valentina De Giorgis

¹Department of Child Neurology and Psychiatry, IRCSS Mondino Foundation, European Reference Network for Rare and Complex Epilepsies, EpiCARE, Pavia, Italy

› Institutsangaben

Abstract

Ring chromosome 20 or r(20) syndrome is a rare chromosomal disorder, mainly characterized by childhood-onset drug-resistant epilepsy with typical electroencephalographic findings, followed by mild to severe cognitive-behavioral decline. Recent studies support a possible role of the dopaminergic system in the epileptogenesis of this syndrome. We report the case of a 13-year-old female with mosaic r(20) who showed typical disease onset and evolution and a remarkable electroclinical improvement with zonisamide. Epilepsy related to r(20) is often medically intractable. When valproate and lamotrigine are not effective, zonisamide could be further investigated as a therapeutic option, since it acts as antifocal and it has a potential role in the prevention of dopamine depletion.

Keywords

ring chromosome 20 - drug-resistant epilepsy - dopamine

Volltext

Referenzen

References
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