Department of Neuroscience, Imaging and Clinical Science, "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy; Epilepsy Center, Neurology Department, "SS Annunziata" Hospital, Chieti, Italy.
Department of Neuroscience, Imaging and Clinical Science, "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy; Epilepsy Center, Neurology Department, "SS Annunziata" Hospital, Chieti, Italy; Behavioral Neurology and Molecular Neurology Units, Center for Advanced Studies and Technology - CAST, University "G. d'Annunzio" of Chieti-Pescara, Italy.
Seizure. 2024 Jan;114:90-95. doi: 10.1016/j.seizure.2023.11.009. Epub 2023 Nov 20.
Epilepsy is one of the most frequent neurological comorbidities in patients with Down Syndrome (DS). Young patients and adults are the most affected, the latter mostly showing a phenotype labeled as "Late-onset myoclonic epilepsy" (LOMEDS). Status epilepticus (SE) is a life-threatening complication in patients with epilepsy. In this study, we described a non-convulsive SE (NCSE) case in a patient diagnosed with LOMEDS. We also performed a systematic review of the literature on SE diagnosis and treatment in patients with Down Syndrome.
Clinical and demographic characteristics of a DS patient diagnosed with NCSE were described. The systematic literature search dissected the diagnostic and therapeutic management of SE in patients with DS. The following databases were used: PubMed, EMBASE, and Google Scholar.
5 DS individuals (4 from the past literature + 1 novel case report) with SE have been identified. The median age at SE onset was 42 years (IQR: 21-60.5 years). The most common SE type was myoclonic SE (MSE), followed by NCSE. Two cases of acute symptomatic etiology were described, whereas a progressive symptomatic etiology was otherwise reported. Ictal EEG recording information was available in two patients who showed generalized spike waves and polyspike and wave discharges. In 3 cases, SE was treated with intravenous antiseizure medications that produced a complete resolution.
SE may represent a rare complication in patients with DS. Although no definitive conclusions may be achieved due to the lack of evidence, treatment with valproic acid seems effective, especially in MSE. NCSE management is more challenging. It requires low doses of anesthetics, which should be used cautiously due to the high rate of complications.
癫痫是唐氏综合征（Down Syndrome，DS）患者最常见的神经学合并症之一。年轻患者和成年患者受影响最大，后者主要表现为“迟发性肌阵挛性癫痫”（Late-onset myoclonic epilepsy，LOMEDS）的表型。癫痫持续状态（Status epilepticus，SE）是癫痫患者的一种危及生命的并发症。在本研究中，我们描述了一例诊断为 LOMEDS 的患者出现非惊厥性 SE（NCSE）的病例。我们还对 DS 患者 SE 诊断和治疗的文献进行了系统回顾。
描述了一位被诊断为 NCSE 的 DS 患者的临床和人口统计学特征。系统文献检索分析了 DS 患者 SE 的诊断和治疗管理。使用了以下数据库：PubMed、EMBASE 和 Google Scholar。
共确定了 5 例（过去文献中 4 例+1 例新病例报告）DS 个体患有 SE。SE 发病的中位年龄为 42 岁（IQR：21-60.5 岁）。最常见的 SE 类型是肌阵挛性 SE（MSE），其次是 NCSE。描述了两例急性症状性病因，而另据报道则为进行性症状性病因。有两名患者的癫痫发作期脑电图记录信息可用，显示出全面性棘波和多棘波和尖波放电。在 3 例中，静脉用抗癫痫药物治疗 SE 产生了完全缓解。
SE 可能是 DS 患者的一种罕见并发症。尽管由于证据不足，无法得出明确结论，但丙戊酸治疗似乎有效，尤其是在 MSE 中。NCSE 的管理更具挑战性。需要使用低剂量的麻醉剂，但由于并发症发生率较高，应谨慎使用。
