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Case Reports
. 2021 Apr 1;12(3):219-223.
doi: 10.1055/s-0041-1726281. eCollection 2023 Sep.

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

Stefano Parravicini  1   2 , Ludovica Pasca  1   2 , Martina Paola Zanaboni  1 , Costanza Varesio  1   2 , Elisa Rognone  3 , Martina Totaro  1   2 , Simone Gana  4 , Elena Rossi  4   5 , Valentina De Giorgis  1
Affiliations
Case Reports

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

Stefano Parravicini et al. J Pediatr Genet. .

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: dopamine; drug-resistant epilepsy; ring chromosome 20.

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Conflict of interest statement

Conflict of Interest None declared.

Figures

Fig. 1
Fig. 1
Examples of the patient's EEG tracings. ( A, B ) Intercritical EEG in awake and sleep before zonisamide showing a poorly organized background activity, with subcontinuous generalized spikes and slow waves complexes (2.5–3 Hz), with a right frontal dominance and diffuse slow activity compatible with nonconvulsive status epilepticus pattern. ( C, D ) Intercritical EEG in awake and sleep after zonisamide add on treatment showing improvement in background activity and disappearance of nonconvulsive status epilepticus. ( E, F ) Ictal EEG showing runs of recruiting spike-waves at 3.5 Hz with frontal predominance followed by rhythmic continuous generalized spikes and slow waves complexes. EEG, electroencephalography.
See this image and copyright information in PMC

References

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