AccScience Publishing / AN / Volume 2 / Issue 4 / DOI: 10.36922/an.1379
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CASE REPORT

Expanding the spectrum of gene-associated reflex seizures: A case report of a “bidet-induced” reflex epilepsy

Tommaso Lo Barco1,2* Jacopo Proietti2,3 Luna Fontanelli4 Ilaria Campari4 Benedetta Piccolo5 Francesca Ormitti6 Emanuela Claudia Turco5
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1 Child Neuropsychiatry Unit, Epilepsy Center, “C. Poma Hospital”, Mantova, Italy
2 Center for Research on Epilepsies in Pediatric Age (CREP), Verona, Italy
3 Child Neuropsychiatry Unit, Department of Surgical Sciences, Dentistry, Gynaecology and Pediatrics, University of Verona, Full Member of European Reference Network EpiCARE, Verona, Italy
4 Child Neuropsychiatry Unit, Department of Mental Health and Pathological Addictions, Azienda USL di Parma, Parma, Italy
5 Child Neurology and Psychiatry Unit, University Hospital of Parma, Parma, Italy
6 Neuroradiology Unit, University Hospital of Parma, Parma, Italy
Advanced Neurology 2023, 2(4), 1379 https://doi.org/10.36922/an.1379
Submitted: 26 July 2023 | Accepted: 12 October 2023 | Published: 20 November 2023
© 2023 by the Author(s). This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution 4.0 International License ( https://creativecommons.org/licenses/by/4.0/ )
Abstract

In this case report, we present the case of a 20-month-old girl who manifested paroxysmal “bidet-induced” episodes characterized by impaired awareness, pallor, and hypotonia, with a duration of less than a minute. Initial neurological examination yielded unremarkable results, prompting further investigation. A video-electroencephalogram recording documented the epileptic nature of these episodes, revealing an ictal discharge originating from the right central-temporal region. A brain magnetic resonance imaging exhibited a sulcal/gyral asymmetry within the central sulci, along with the presence of the “power button sign” within the right central sulcus. These findings were indicative of a focal cortical dysplasia type-2. Subsequent genetic analysis through a gene panel identified the presence of an NPRL2 variant. Mutations affecting this particular gene are known to disrupt the normal functioning of the GATOR1 complex, potentially causing focal cortical dysplasia and various forms of epilepsy, including familial focal epilepsy with variable foci. On the diagnosis, the patient received levetiracetam, and the ictal episodes promptly ceased. At the most recent follow-up (at 4 years old), the patient remained free of seizures without the need for any treatment, and her neurodevelopment so far had exhibited no abnormalities. Considering the landscape of epilepsy-related GATOR1 variants, it is conceivable that this gene family may play a significant role in the pathogenesis of benign forms of focal reflex seizures, including bathing epilepsy.

Keywords
NPRL2
GATOR1
mTOR
Reflex seizures
Focal cortical dysplasia
Focal epilepsy with variable foci
Funding
None.
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Conflict of interest
The authors declare that they have no competing interests.
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Advanced Neurology, Electronic ISSN: 2810-9619 Published by AccScience Publishing