Ferrera Giulia, Ricci Emilia, Peron Angela, Parrini Elena, Vignoli Aglai, Canevini Maria Paola
Epilepsy Center-Sleep Medicine, University of Milan and ASST Santi Paolo e Carlo, Milan, Italy.
Division of Medical Genetics, Department of Pediatrics, University of Utah Health, Salt Lake City, USA.
Neurocase. 2024 Apr;30(2):68-72. doi: 10.1080/13554794.2024.2354952. Epub 2024 May 20.
-associated encephalopathy is characterized by intellectual disability (ID), autism spectrum disorder and epilepsy. Specific treatments are still lacking. We describe a 12-year-old boy with severe ID and treatment-resistant seizures due to a pathogenic variant. His EEG showed a CSWS pattern. Aged 11, he started treatment with highly purified cannabidiol (CBD) and has been seizure free for 18 months, with significant EEG and social skills improvements. This suggests CBD may benefit CSWS, likely due to its anti-inflammatory properties. Some preclinical studies also indicate CBDs interact with voltage-gated channels, leading us to speculate its possible role for treating related encephalopathy.
相关脑病的特征为智力残疾（ID）、自闭症谱系障碍和癫痫。目前仍缺乏特效治疗方法。我们描述了一名12岁男孩，因致病性变异导致严重智力残疾和难治性癫痫发作。他的脑电图显示为CSWS模式。11岁时，他开始接受高纯度大麻二酚（CBD）治疗，目前已无癫痫发作18个月，脑电图和社交技能有显著改善。这表明CBD可能对CSWS有益，可能是由于其抗炎特性。一些临床前研究还表明，CBD与电压门控通道相互作用，这使我们推测其在治疗相关脑病方面可能发挥的作用。
