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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
1   Department of Child Neurology and Psychiatry, IRCSS Mondino Foundation, European Reference Network for Rare and Complex Epilepsies, EpiCARE, Pavia, Italy
2   Brain and Behaviour Department, University of Pavia, Pavia, Italy
,
Ludovica Pasca
1   Department of Child Neurology and Psychiatry, IRCSS Mondino Foundation, European Reference Network for Rare and Complex Epilepsies, EpiCARE, Pavia, Italy
2   Brain and Behaviour Department, University of Pavia, Pavia, Italy
,
Martina Paola Zanaboni
1   Department of Child Neurology and Psychiatry, IRCSS Mondino Foundation, European Reference Network for Rare and Complex Epilepsies, EpiCARE, Pavia, Italy
,
Costanza Varesio
1   Department of Child Neurology and Psychiatry, IRCSS Mondino Foundation, European Reference Network for Rare and Complex Epilepsies, EpiCARE, Pavia, Italy
2   Brain and Behaviour Department, University of Pavia, Pavia, Italy
,
Elisa Rognone
3   Department of Neuroradiology, IRCSS Mondino Foundation, Pavia, Italy
,
Martina Totaro
1   Department of Child Neurology and Psychiatry, IRCSS Mondino Foundation, European Reference Network for Rare and Complex Epilepsies, EpiCARE, Pavia, Italy
2   Brain and Behaviour Department, University of Pavia, Pavia, Italy
,
Simone Gana
4   Medical Genetics, IRCCS Mondino Foundation, Pavia, Italy
,
Elena Rossi
4   Medical Genetics, IRCCS Mondino Foundation, Pavia, Italy
5   Department of Molecular Medicine, University of Pavia, Pavia, Italy
,
Valentina De Giorgis
1   Department of Child Neurology and Psychiatry, IRCSS Mondino Foundation, European Reference Network for Rare and Complex Epilepsies, EpiCARE, Pavia, Italy
› Author Affiliations Funding This work was partially supported by Italian Ministry of Health (RC 2020–2022).
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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

Note

The informed consent for this case report to be published was provided by the legal tutors of the patient.


Authors' Contributions

S.P., L.P., C.V., and M.P.Z. conceptualized the study, drafted the original manuscript, and critically reviewed and edited the manuscript. C.V., E.R., M.T., and S.G. involved in investigation of the study. V.D.G. supported in conceptualization and also carried out the supervision of study.


Supplementary Material



Publication History

Received: 24 July 2020

Accepted: 06 February 2021

Article published online:
01 April 2021

© 2021. Thieme. All rights reserved.

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