Page 81 - AN-2-4

Advanced Neurology

CASE REPORT
Expanding the spectrum of gene-associated

reflex seizures: A case report of a “bidet-induced”
reflex epilepsy

Tommaso Lo Barco *, Jacopo Proietti , Luna Fontanelli , Ilaria Campari ,
1,2
4
4
2,3
Benedetta Piccolo , Francesca Ormitti , and Emanuela Claudia Turco 5
6
5
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

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
*Corresponding author:
Tommaso Lo Barco episodes, revealing an ictal discharge originating from the right central-temporal
(tommaso.lobarco@gmail.com) region. A brain magnetic resonance imaging exhibited a sulcal/gyral asymmetry
Citation: Lo Barco T, Proietti J, within the central sulci, along with the presence of the “power button sign” within
Fontanelli L, et al., 2023, Expanding the right central sulcus. These findings were indicative of a focal cortical dysplasia
the spectrum of gene-associated type-2. Subsequent genetic analysis through a gene panel identified the presence
reflex seizures: A case report of a
“bidet-induced” reflex epilepsy. of an NPRL2 variant. Mutations affecting this particular gene are known to disrupt
Adv Neuro, 2(4): 1379. the normal functioning of the GATOR1 complex, potentially causing focal cortical
https://doi.org/10.36922/an.1379 dysplasia and various forms of epilepsy, including familial focal epilepsy with variable
Received: July 26, 2023 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
Accepted: October 12, 2023
free of seizures without the need for any treatment, and her neurodevelopment so
Published Online: November 20, far had exhibited no abnormalities. Considering the landscape of epilepsy-related
2023 GATOR1 variants, it is conceivable that this gene family may play a significant role in
Copyright: © 2023 Author(s). the pathogenesis of benign forms of focal reflex seizures, including bathing epilepsy.
This is an Open-Access article
distributed under the terms of the
Creative Commons Attribution Keywords: NPRL2; GATOR1; mTOR; Reflex seizures; Focal cortical dysplasia; Focal epilepsy
License, permitting distribution,
and reproduction in any medium, with variable foci
provided the original work is
properly cited.
Publisher’s Note: AccScience
Publishing remains neutral with 1. Background
regard to jurisdictional claims in
published maps and institutional A reflex seizure is characterized by its consistent or nearly consistent elicitation by a
affiliations. specific stimulus or trigger . These seizures encompass a diverse range and are usually
[1]

Volume 2 Issue 4 (2023) 1 https://doi.org/10.36922/an.1379