PDF(Pubmed)
Abstract：
The Sotos syndrome is an autosomal dominant disorder characterized by haploinsufficiency of NSD1 gene, with some individuals affected by epilepsy and, rarely, drug-resistant seizures. A 47-years-old female patient with Sotos syndrome was diagnosed with focal-onset seizures in left temporal lobe, left-side hippocampal atrophy, and neuropsychological testing with decreased performance in several cognitive domains. Patient was treated with left-side temporal lobe resection and developed complete awake seizure control in 3-years of follow-up, with marked improvement in quality-of-life. In selected, clinically concordant patients, resective surgeries may play a significant role in improving patient\'s quality of life and seizure control.
摘要：
Sotos综合征是一种以NSD1基因单倍体不足为特征的常染色体显性遗传病,一些受癫痫影响的人，很少,耐药癫痫发作。一名47岁的女性Sotos综合征患者被诊断为左颞叶局灶性发作性癫痫发作，左侧海马萎缩,和神经心理学测试在几个认知领域的表现下降。患者接受左侧颞叶切除术治疗，并在3年的随访中出现完全清醒的癫痫发作控制，生活质量显著提高。在选定的,临床上一致的患者，切除手术可能在改善患者生活质量和控制癫痫发作方面发挥重要作用。
