Marashly Ahmad, Lew Sean, Koop Jennifer
Division of Pediatric Neurology, Children's Hospital of Wisconsin/Medical College of Wisconsin, Milwaukee, WI, USA.
Division of Pediatric Neurosurgery, Children's Hospital of Wisconsin/Medical College of Wisconsin, Milwaukee, WI, USA.
Epilepsy Behav Case Rep. 2017 May 22;8:18-26. doi: 10.1016/j.ebcr.2017.05.002. eCollection 2017.
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.
痴笑性癫痫（GS）通常与下丘脑错构瘤相关，且多在儿童期出现。然而，现在已知GS可见于起源于大脑其他区域的局灶性癫痫，包括内侧和新皮质额叶、颞叶和顶叶区域。GS很少被描述为新发难治性癫痫持续状态（NORSE）的首发表现。在本文中，我们描述了一名此前健康的3岁儿童，其以爆发性发作的GS就诊，多种抗癫痫药物治疗无效。这些发作起源于右侧额叶区域。广泛的代谢和免疫学评估均为阴性。她的脑磁共振成像（MRI）结果为阴性，但正电子发射断层扫描（PET）显示右侧额叶下回有一个高代谢区域。她接受了深部电极评估，结果显示一个广泛的刺激区，包括PET“病灶”以及右侧额叶的内侧和新皮质区域。癫痫发作起始区广泛且难以定位。然而，GS与来自额上回深部的侵入性脑电图上明确的发作期癫痫样放电相关，该放电与PET高代谢区域不重叠。她接受了右侧额叶切除术，保留了中央前回的主要运动区。自那以后，她已无癫痫发作15个月。病理分析显示PET扫描高代谢区域存在II型局灶性皮质发育不良。该病例扩展了GS的临床谱，使其包括NORSE病例。此外，该病例突出了切除性手术在以NORSE形式出现的GS中的作用，以及早期干预可能取得的极佳效果。
