A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064203:_____/24:10471070

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy

Popis výsledku v původním jazyce

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&gt;G p.(Ile1745Val) (Chr2(GRCh37):g.109382228A&gt;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.

Název v anglickém jazyce

A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy

Popis výsledku anglicky

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&gt;G p.(Ile1745Val) (Chr2(GRCh37):g.109382228A&gt;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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30103 - Neurosciences (including psychophysiology)

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2024

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Epilepsia Open

ISSN

2470-9239

e-ISSN

2470-9239

Svazek periodika

9

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

8

Strana od-do

424-431

Kód UT WoS článku

001127912300001

EID výsledku v databázi Scopus

2-s2.0-85179951589