AUTHOR=Favi Bocca Leonardo , Pereira Rodrigues Thiago , Bortholin Thiago , Targas Yacubian Elza Márcia , Carrete Júnior Henrique , Guaranha Mirian , Silva Centeno Ricardo 

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

JOURNAL=Frontiers in Neurology

VOLUME=14

YEAR=2023

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2023.1126327

DOI=10.3389/fneur.2023.1126327

ISSN=1664-2295

ABSTRACT=<p>The Sotos syndrome is an autosomal dominant disorder characterized by haploinsufficiency of <italic>NSD1</italic> 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.</p>