Case report: Successful anterior temporal lobectomy in drug-resistant temporal lobe epilepsy associated with Sotos syndrome

被引：2

作者：

Bocca, Leonardo Favi ^{[1
]}

Rodrigues, Thiago Pereira ^{[1
]}

Bortholin, Thiago ^{[1
]}

Yacubian, Elza Marcia Targas ^{[1
]}

Carrete Jr, Henrique ^{[2
]}

Guaranha, Mirian ^{[1
]}

Centeno, Ricardo Silva ^{[1
]}

机构：

[1] Univ Fed Sao Paulo, Dept Neurol & Neurosurg, Sao Paulo, Brazil

[2] Univ Fed Sao Paulo, Dept Diagnost Imaging, Sao Paulo, Brazil

来源：

FRONTIERS IN NEUROLOGY | 2023年 / 14卷

关键词：

Sotos syndrome; temporal lobe epilepsy; epilepsy surgery; outcome; hippocampal sclerosis; SURGERY;

D O I：

10.3389/fneur.2023.1126327

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页数：5

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