Successful surgical management of New Onset Refractory Status Epilepticus (NORSE) presenting with gelastic seizures in a 3 year old girl

Abstract

Gelastic seizures (GS) are typically associated with hypothalamic hamartomas and present during childhood. However it is now known that GS can be found in focal epilepsies arising from other regions in the brain, including mesial and neocortical frontal, temporal and parietal regions.GS have rarely been described as the presenting manifestation of New Onset Refractory Status Epilepticus (NORSE). In this article we describe a previously healthy 3-year-old who presented with an explosive onset of GS that were refractory to multiple anti-seizure medications. These seizures arose from the right frontal region. An extensive metabolic and immunological evaluation was negative. Her brain magnetic resonance imaging (MRI) was negative, however the Positron Emission Tomography (PET) scan showed a hypermetabolic region in the right frontal inferior gyrus.She underwent a depth electrode evaluation that revealed a widespread irritative zone involving the PET “lesion” as well as mesial and neocortical regions in the right frontal lobe. The seizure onset zone was widespread and non-localizable. However the GS were associated with a clear ictal epileptiform discharge on invasive EEG arising from the depth of the superior frontal gyrus, which was not overlapping with the PET hypermetabolic region. She underwent a right frontal lobectomy sparing the primary motor region in the pre-central gyrus. She has remained seizure free for 15 months since. The pathological analysis showed focal cortical dysplasia type II in the region of the PET scan hypermetabolism. This case expands the clinical spectrum of GS to include cases of NORSE. Additionally the case highlights the role of resective surgery in GS presenting as NORSE and the potentially excellent outcome that can be achieved by early intervention.

Surgical treatment of extra‐hypothalamic epilepsies presenting with gelastic seizures

“…Similarly, Hu et al (2011) described a teenager with drug-refractory GS that resolved completely following resection of a focal cortical dysplasia. Marashly et al (2017) reported an interesting case of a three-year-old female who presented with GS in the setting of new-onset refractory status epilepticus. PET and SEEG identified the SOZ in the right superior frontal gyrus.…”

New-onset refractory status epilepticus and considered spectrum disorders (NORSE/ FIRES)

“…Syndrom je charakterizován refrakterními epileptickými záchvaty bez prokazatelné aktivní strukturální, toxické nebo metabolické příčiny. Typicky se NORSE prezentuje jako super-refrakterní status epilepticus, ale toto kritérium není podmínkou dia gnózy [1][2][3]. Ve většině případů NORSE předchází mírné febrilní onemocnění [4].…”

“…Jedná se o zřídkavý, akutní, potenciálně fatální epileptický syndrom, kterému předchází febrilní infekt. Latence mezi febrilním infektem a manifestaci RSE je uváděna v rozmezí 24 h až 2 týdnů [2]. Postihuje děti ve věku 3-15 let s predominancí chlapců [2].…”

“…Latence mezi febrilním infektem a manifestaci RSE je uváděna v rozmezí 24 h až 2 týdnů [2]. Postihuje děti ve věku 3-15 let s predominancí chlapců [2]. Obdobně jako NORSE se vyskytuje u pa cientů bez předchozí anamnézy epilepsie a prezentuje se jako progresivní nástup záchvatů s přechodem do prolongovaného RSE.…”

“…V rámci nefarmakologické léčby v efektivitě dominuje jednoznačně ketogen ní dieta. U FIRES je efektivní v 50 % a u NORSE asi u 60 % [1,2,12]. Ve srovnání s jinými nefarmakologickými možnostmi léčby je ketogen ní dieta v akutní fázi onemocnění také nejdostupnější možnost.…”