A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F24%3A10471070" target="_blank" >RIV/00216208:11130/24:10471070 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/24:10471070
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=Hn5Igok7f5" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=Hn5Igok7f5</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/epi4.12863" target="_blank" >10.1002/epi4.12863</a>
Alternative languages
Result language
angličtina
Original language name
A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy
Original language description
Focal cortical dysplasia (FCD) represents the most common cause of drug-resistant epilepsy in adult and pediatric surgical series. However, genetic factors contributing to severe phenotypes of FCD remain unknown. We present a patient with an exceptionally rapid development of drug-resistant epilepsy evolving in super-refractory status epilepticus. We performed multiple clinical (serial EEG, MRI), biochemical (metabolic and immunological screening), genetic (WES from blood- and brain-derived DNA) and histopathological investigations. The patient presented one month after an uncomplicated varicella infection. MRI was negative, as well as other biochemical and immunological examinations. WES of blood-derived DNA detected a heterozygous paternally-inherited variant NM_006267.4(RANBP2):c.5233A>G p.(Ile1745Val) (Chr2(GRCh37):g.109382228A>G), a gene associated with a susceptibility to infection-induced acute necrotizing encephalopathy. No combination of anti-seizure medication led to a sustained seizure freedom and the patient warranted induction of propofol anesthesia with high-dose intravenous midazolam and continuous respiratory support that however failed to abort seizure activity. Brain biopsy revealed FCD type IIa; this finding led to the indication of an emergency right-sided hemispherotomy that rendered the patient temporarily seizure-free. Post-surgically, he remains on anti-seizure medication and experiences rare non-disabling seizures. This report highlights a uniquely severe clinical course of FCD putatively modified by the RANBP2 variant.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Epilepsia Open
ISSN
2470-9239
e-ISSN
2470-9239
Volume of the periodical
9
Issue of the periodical within the volume
1
Country of publishing house
US - UNITED STATES
Number of pages
8
Pages from-to
424-431
UT code for WoS article
001127912300001
EID of the result in the Scopus database
2-s2.0-85179951589