Sen Kuntal, Harrar Dana, Pariseau Nicole, Tucker Karis, Keenan Julia, Zhang Anqing, Gropman Andrea
Division of Neurogenetics and Neurodevelopmental Pediatrics, Center for Neuroscience and Behavioral Medicine, GWU School of Medicine and Health Sciences, Children's National Hospital, 111 Michigan Ave, NW, Washington, DC, 20010, USA.
Division of Child Neurology, Children's National Hospital, Washington, DC, USA.
Neurocrit Care. 2025 Apr;42(2):562-572. doi: 10.1007/s12028-024-02073-4. Epub 2024 Aug 13.
Acute metabolic crises in inborn errors of metabolism (such as urea cycle disorders, organic acidemia, maple syrup urine disease, and mitochondrial disorders) are neurological emergencies requiring management in the pediatric intensive care unit (PICU). There is a paucity of data pertaining to electroencephalograms (EEG) characteristics in this cohort. We hypothesized that the incidence of background abnormalities and seizures in this cohort would be high. Neuromonitoring data from our center's PICU over 10 years are presented in this article.
Data were collected by retrospective chart review for patients with the aforementioned disorders who were admitted to the PICU at our institution because of metabolic/neurologic symptoms from 2008 to 2018. Descriptive statistics (χ test or Fisher's exact test) were used to study the association between EEG parameters and outcomes.
Our cohort included 40 unique patients (8 with urea cycle disorder, 7 with organic acidemia, 3 with maple syrup urine disease, and 22 with mitochondrial disease) with 153 admissions. Presenting symptoms included altered mentation (36%), seizures (41%), focal weakness (5%), and emesis (28%). Continuous EEG was ordered in 34% (n = 52) of admissions. Twenty-three admissions were complicated by seizures, including eight manifesting as status epilepticus (seven nonconvulsive and one convulsive). Asymmetry and focal slowing on EEG were associated with seizures. Moderate background slowing or worse was noted in 75% of EEGs. Among those patients monitored on EEG, 4 (8%) died, 3 (6%) experienced a worsening of their Pediatric Cerebral Performance Category (PCPC) score as compared to admission, and 44 (86%) had no change (or improvement) in their PCPC score during admission.
This study shows a high incidence of clinical and subclinical seizures during metabolic crisis in patients with inborn errors of metabolism. EEG background features were associated with risk of seizures as well as discharge outcomes. This is the largest study to date to investigate EEG features and risk of seizures in patients with neurometabolic disorders admitted to the PICU. These data may be used to inform neuromonitoring protocols to improve mortality and morbidity in inborn errors of metabolism.
先天性代谢缺陷（如尿素循环障碍、有机酸血症、枫糖尿症和线粒体疾病）中的急性代谢危机是需要在儿科重症监护病房（PICU）进行处理的神经急症。关于该队列脑电图（EEG）特征的数据较少。我们假设该队列中背景异常和癫痫发作的发生率会很高。本文展示了我们中心PICU 10年来的神经监测数据。
通过回顾性病历审查收集2008年至2018年因代谢/神经症状入住我们机构PICU的上述疾病患者的数据。使用描述性统计（χ检验或Fisher精确检验）来研究EEG参数与预后之间的关联。
我们的队列包括40例独特患者（8例尿素循环障碍、7例有机酸血症、3例枫糖尿症和22例线粒体疾病），共153次入院。呈现的症状包括精神状态改变（36%）、癫痫发作（41%）、局部无力（5%）和呕吐（28%）。34%（n = 52）的入院患者接受了连续EEG检查。23次入院并发癫痫发作，其中8次表现为癫痫持续状态（7次非惊厥性和1次惊厥性）。EEG上的不对称和局灶性减慢与癫痫发作相关。75%的EEG显示有中度或更严重的背景减慢。在接受EEG监测的患者中，4例（8%）死亡，3例（6%）与入院时相比小儿脑功能分类（PCPC）评分恶化，44例（86%）在入院期间PCPC评分无变化（或改善）。
本研究表明，先天性代谢缺陷患者在代谢危机期间临床和亚临床癫痫发作的发生率很高。EEG背景特征与癫痫发作风险以及出院结局相关。这是迄今为止调查入住PICU的神经代谢障碍患者EEG特征和癫痫发作风险的最大规模研究。这些数据可用于指导神经监测方案，以改善先天性代谢缺陷患者的死亡率和发病率。
