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Advanced Neurologyurology
Advanced Ne NPRL2 as possible actor in reflex seizures

classified based on the nature of the triggering stimuli: contralateral hemisphere. These clinical manifestations
sensory, motor, or cognitive; simple or complex. However, included cyanosis, hypotonia, and impaired awareness,
patients experiencing seizures triggered by the same with a duration of nearly 1 min (Figure 1).
stimulus can exhibit significant disparities in electroclinical Brain MRI findings revealed a focal sulcal/gyral
features, etiologies, and prognosis . asymmetry in the perirolandic regions. This asymmetry
[1]
Given this considerable variability, accurately classifying was attributed to the deeper section of the ascending branch
a patient with reflex seizures as their first manifestation of the right central sulcus, resembling the characteristic
into a specific syndrome and etiological category can be “power button sign” (Figure 2). This central sulcus variant
challenging. is highly suggestive of a focal cortical dysplasia type 2,
which involves the interposition of a precentral sulcal
Reflex seizures that manifest during the early years of
life often raise concerns, as they can be indicative of serious segment between the central sulcus and a hook-shaped
anterior ascending branch .
[7]
diseases, such as structural epilepsies or developmental
and epileptic encephalopathies [2-4] . Even when initial Blood screening, neurometabolic investigations, and
brain magnetic resonance imaging (MRI) results appear microarray-based comparative genomic hybridization
unremarkable, the presence of normal neurodevelopment (array-CGH) yielded normal results. A next-generation
and a negative electroencephalogram (EEG) at the sequencing (NGS) panel comprising 222 epilepsy-
onset does not completely exclude the possibilities of related genes revealed the presence of an NPRL2 variant
severe underlying conditions. Recent advancements in (c.180G>A p.[Met60Ile]), which had been inherited by her
neurogenetic diagnostic techniques have expedited the asymptomatic mother.
identification of potential genetic variants responsible As part of her treatment, she received levetiracetam
for seizures. However, interpreting these findings can be as an antiseizure medication, which promptly led to the
complicated. cessation of ictal episodes. After 18 months of being free

Recently, there have been reports in the literature from seizures, her treatment was gradually tapered.
of genetic variants associated with reflex seizures in During the most recent follow-up, conducted when the
children who exhibit neither development and cognitive patient was 4 years old, she remained free from seizures, and
impairment nor structural lesions [5,6] . her EEG displayed no abnormalities. A neurodevelopment
In this report, we present the case of a young girl who assessment was performed using the Griffiths Mental
experienced “bidet-induced” reflex seizures in her 2 year Developmental Scales, revealing a normal progression
nd
of life and was found to carry a variant of the NPRL2 gene. in motor, social, and cognitive skills, albeit with a mild
impairment in expressive language.
2. Case presentation
3. Discussion
A 20-month-old girl presented with paroxysmal “bidet-
induced” episodes characterized by impaired awareness, In this case report, we present the case of a young girl who
pallor, perioral cyanosis, buccal automatisms, and began experiencing “bidet-induced” reflex seizures during
hypotonia. These episodes lasted for less than a minute the first months of life. This case exhibits a favorable seizure
and spontaneously resolved. They were triggered by outcome and normal neurodevelopment.
pouring cold or warm water over genitalia. However, they In medical literature, there have been cases of reflex
did not occur in response to cleaning with wipes, tactile seizures induced by “diaper-changing” or “perineal
stimulation of the perineum, or during a complete bathing. stimulation” with onset in the 1 year of life. In most
st
At the age of 16 months, she had experienced a febrile of these cases, such seizures are associated with an
seizure. Her neurodevelopmental milestones were within unfavorable prognosis, mainly in the context of conditions
the expected normal range, and there were no remarkable like Dravet syndrome or other conditions characterized
familial medical history factors. by drug-resistant seizures and cognitive impairment. [3,4,8]
Polygraphic video-EEG recording demonstrated Although the follow-up period for our patient is relatively
a normal background activity with no interictal short, the neurodevelopmental trajectory observed at
abnormalities. During the recording, an attempt was the age of 4 years suggests the absence of developmental
made to trigger an episode by scrubbing the perineum encephalopathy.
with lukewarm water. The EEG revealed a high-voltage Bathing epilepsy (BE) is a condition characterized by
polymorphic ictal activity originating from the right the recurrence of seizures triggered by bathing in water
central-temporal region, with secondary diffusion to the heated to body temperature, primarily affecting children

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