Favi Bocca Leonardo, Pereira Rodrigues Thiago, Bortholin Thiago, Targas Yacubian Elza Márcia, Carrete Júnior Henrique, Guaranha Mirian, Silva Centeno Ricardo
Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil.
Department of Diagnostic Imaging, Federal University of São Paulo, São Paulo, Brazil.
Front Neurol. 2023 Mar 9;14:1126327. doi: 10.3389/fneur.2023.1126327. eCollection 2023.
The Sotos syndrome is an autosomal dominant disorder characterized by haploinsufficiency of 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.
索托斯综合征是一种常染色体显性疾病，其特征为基因单倍剂量不足，部分患者患有癫痫，极少数患者患有耐药性癫痫发作。一名47岁的索托斯综合征女性患者被诊断为左侧颞叶局灶性发作、左侧海马萎缩，神经心理学测试显示其在多个认知领域的表现有所下降。该患者接受了左侧颞叶切除术，在3年的随访中癫痫发作得到完全控制，生活质量显著改善。对于部分临床症状相符的患者，切除性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。
