Splitkova Barbora, Mackova Katerina, Koblizek Miroslav, Holubova Zuzana, Kyncl Martin, Bukacova Katerina, Maulisova Alice, Straka Barbora, Kudr Martin, Ebel Matyas, Jahodova Alena, Belohlavkova Anezka, Rivera Gonzalo Alonso Ramos, Hermanovsky Martin, Liby Petr, Tichy Michal, Zamecnik Josef, Janca Radek, Krsek Pavel
Department of Pediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, full member of the European Reference Network EpiCARE, Prague, Czech Republic.
Department of Circuit Theory, Faculty of Electrical Engineering, Czech Technical University in Prague, Prague, Czech Republic.
Epilepsia. 2025 Mar;66(3):632-647. doi: 10.1111/epi.18237. Epub 2024 Dec 26.
We comprehensively characterized a large pediatric cohort with focal cortical dysplasia (FCD) type 1 to expand the phenotypic spectrum and to identify predictors of postsurgical outcomes.
We included pediatric patients with histopathological diagnosis of isolated FCD type 1 and at least 1 year of postsurgical follow-up. We systematically reanalyzed clinical, electrophysiological, and radiological features. The results of this reanalysis served as independent variables for subsequent statistical analyses of outcome predictors.
All children (N = 31) had drug-resistant epilepsy with varying impacts on neurodevelopment and cognition (presurgical intelligence quotient [IQ]/developmental quotient scores = 32-106). Low presurgical IQ was associated with abnormal slow background electroencephalographic (EEG) activity and disrupted sleep architecture. Scalp EEG showed predominantly multiregional and often bilateral epileptiform activity. Advanced epilepsy magnetic resonance imaging (MRI) protocols identified FCD-specific features in 74.2% of patients (23/31), 17 of whom were initially evaluated as MRI-negative. In six of eight MRI-negative cases, fluorodeoxyglucose-positron emission tomography (PET) and subtraction ictal single photon emission computed tomography coregistered to MRI helped localize the dysplastic cortex. Sixteen patients (51.6%) underwent invasive EEG. By the last follow-up (median = 5 years, interquartile range = 3.3-9 years), seizure freedom was achieved in 71% of patients (22/31), including seven of eight MRI-negative patients. Antiseizure medications were reduced in 21 patients, with complete withdrawal in six. Seizure outcome was predicted by a combination of the following descriptors: age at epilepsy onset, epilepsy duration, long-term invasive EEG, and specific MRI and PET findings.
This study highlights the broad phenotypic spectrum of FCD type 1, which spans far beyond the narrow descriptions of previous studies. The applied multilayered presurgical approach helped localize the epileptogenic zone in many previously nonlesional cases, resulting in improved postsurgical seizure outcomes, which are more favorable than previously reported for FCD type 1 patients.
我们全面描述了一个大型的1型局灶性皮质发育不良（FCD）儿科队列，以扩大其表型谱并确定术后结果的预测因素。
我们纳入了经组织病理学诊断为孤立性1型FCD且术后至少随访1年的儿科患者。我们系统地重新分析了临床、电生理和放射学特征。此次重新分析的结果作为结果预测因素后续统计分析的自变量。
所有儿童（N = 31）均患有耐药性癫痫，对神经发育和认知有不同程度的影响（术前智商/发育商得分 = 32 - 106）。术前低智商与异常的慢背景脑电图（EEG）活动和睡眠结构紊乱有关。头皮EEG主要显示多区域且常为双侧的癫痫样活动。先进的癫痫磁共振成像（MRI）方案在74.2%的患者（23/31）中发现了FCD特异性特征，其中17例最初评估为MRI阴性。在8例MRI阴性病例中的6例中，氟脱氧葡萄糖正电子发射断层扫描（PET）和与MRI配准的减影发作期单光子发射计算机断层扫描有助于定位发育异常的皮质。16例患者（51.6%）接受了侵入性EEG检查。到最后一次随访时（中位数 = 5年，四分位间距 = 3.3 - 9年），71%的患者（22/31）实现了无癫痫发作，包括8例MRI阴性患者中的7例。21例患者的抗癫痫药物减少，6例完全停药。癫痫发作结果可通过以下描述因素的组合进行预测：癫痫发作起始年龄、癫痫病程、长期侵入性EEG以及特定的MRI和PET表现。
本研究突出了1型FCD广泛的表型谱，其范围远远超出了以往研究的狭义描述。所应用的多层术前方法有助于在许多先前无病变的病例中定位致痫区，从而改善术后癫痫发作结果，比先前报道的1型FCD患者更为有利。
