Research Institute of the McGill University Medical Centre, Montreal, Quebec, Canada
Department of Neurology, Texas Children’s Hospital, Houston, Texas, USA
Epileptic Disord. 2022 Oct 1;24(5):928-933. doi: 10.1684/epd.2022.1452.
Koolen-de Vries syndrome (KdVS) is a genetic condition caused by 17q21.31 microdeletions or pathogenic variants in KANSL1. Affected patients most commonly exhibit some or all of the following: neonatal hypotonia, developmental impairment, facial dysmorphic features, and congenital malformations. Epilepsy occurs in approximately half, often with phenotypes on the epilepsyaphasia spectrum. We describe six children with KdVS found to have continuous spike-wave in sleep (CSWS) on EEG, four of whom were diagnosed with epileptic encephalopathy with CSWS and two with Landau-Kleffner syndrome. When compared with other children with CSWS on EEG, patients with KdVS may present at slightly later ages and with a longer interval between seizure diagnosis and identification of CSWS. There is no clear best treatment for children with CSWS, but two patients in our cohort were trialed on a variation of the ketogenic diet, and both reported clinical improvement. In one of the patients, the response was dramatic, and CSWS recurred when weaning of the ketogenic diet was attempted. Based on our findings, an EEG capturing a prolonged period of sleep should be arranged in any child with KdVS presenting with developmental regression or plateau, particularly if they have a preceding history of seizures.
科伦-德弗里斯综合征（KdVS）是一种由 17q21.31 微缺失或 KANSL1 中的致病性变异引起的遗传疾病。受影响的患者最常表现出以下部分或全部特征：新生儿低张力、发育障碍、面部畸形特征和先天性畸形。大约一半的患者会发生癫痫，通常具有癫痫-失语症谱的表型。我们描述了 6 名被发现脑电图有睡眠中持续棘慢波（CSWS）的 KdVS 患儿，其中 4 名被诊断为 CSWS 伴癫痫性脑病，2 名被诊断为 Landau-Kleffner 综合征。与其他脑电图 CSWS 患儿相比，KdVS 患儿的发病年龄略晚，且从癫痫发作诊断到 CSWS 识别的间隔时间更长。对于 CSWS 患儿，目前尚无明确的最佳治疗方法，但我们组内的 2 名患儿尝试了一种改良的生酮饮食，他们都报告了临床改善。其中一名患者的反应非常显著，当尝试逐渐减少生酮饮食时 CSWS 再次发作。基于我们的发现，对于任何出现发育退化或停滞的 KdVS 患儿，特别是那些有既往癫痫发作史的患儿，应安排进行持续时间较长的睡眠脑电图检查。
