Introduction:

Lennox-Gastaut syndrome is a severe form of pediatric epilepsy that is classically defined by a triad of drug-resistant seizures, including atonic, tonic, and atypical absence seizures; slow spike-and-wave discharges and paroxysmal fast activity on electroencephalography (EEG); and cognitive and behavioral dysfunction. In the vast majority, Lennox-Gastaut syndrome develops in patients with an identified etiology, including genetic or structural brain abnormalities. Long-term prognosis is generally poor with progressive intellectual deterioration and persistent seizures. At present, there are few reported cases of Lennox-Gastaut syndrome and trisomy 21 in the literature. To further delineate the spectrum of epilepsy in trisomy 21, we reviewed children with trisomy 21 and Lennox-Gastaut syndrome at one center over 28 years.

Methods:

This is a retrospective case series. At our institution, all EEG results are entered into a database, which was queried for patients with trisomy 21 from 1992 to 2019. Pertinent electroclinical data was obtained from medical records.

Results:

Of 63 patients with trisomy 21 and epilepsy, 6 (10%) had Lennox-Gastaut syndrome and were included in the study. Four of the 6 patients were male and 5 of 6 had neuroimaging, which was normal. Follow-up ranged from 3 to 20 years. Notably, 5 of 6 had predominant myoclonic seizures throughout the course of their epilepsy, associated with generalized spike-wave discharges, <100 milliseconds.

Conclusion:

We observed myoclonic seizures to be a predominant seizure type in patients with trisomy 21, suggestive that trisomy 21 patients may have a unique pattern of Lennox-Gastaut syndrome.

中文翻译：

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患有 21 三体综合征和 Lennox-Gastaut 综合征的儿童，主要是肌阵挛性癫痫发作

介绍：

Lennox-Gastaut 综合征是儿童癫痫的一种严重形式，其经典定义为耐药性癫痫发作三联征，包括失张力发作、强直发作和非典型失神发作；脑电图 (EEG) 上的缓慢棘波放电和阵发性快速活动；以及认知和行为功能障碍。在绝大多数情况下，Lennox-Gastaut 综合征发生在具有已确定病因的患者身上，包括遗传或结构性脑异常。长期预后一般较差，伴有进行性智力退化和持续性癫痫发作。目前文献报道的 Lennox-Gastaut 综合征和 21 三体综合征病例较少。为了进一步描述 21 三体癫痫的谱系，我们回顾了一个中心超过 28 年的患有 21 三体和 Lennox-Gastaut 综合征的儿童。

方法：

这是一个回顾性案例系列。在我们机构，所有脑电图结果都输入数据库，该数据库被查询为 1992 年至 2019 年的 21 三体患者。相关的电临床数据来自医疗记录。

结果：

在 63 名患有 21 三体和癫痫的患者中，6 名（10%）患有 Lennox-Gastaut 综合征并被纳入研究。6 名患者中有 4 名是男性，6 名患者中有 5 名有神经影像学检查，这是正常的。随访时间为 3 至 20 年。值得注意的是，6 人中有 5 人在癫痫病程中出现主要的肌阵挛发作，并伴有小于 100 毫秒的全身性棘波放电。

结论：

我们观察到肌阵挛发作是 21 三体患者的主要发作类型，这表明 21 三体患者可能具有独特的 Lennox-Gastaut 综合征模式。