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.
CITATION STYLE
Favi Bocca, L., Pereira Rodrigues, T., Bortholin, T., Targas Yacubian, E. M., Carrete Júnior, H., Guaranha, M., & Silva Centeno, R. (2023). Case report: Successful anterior temporal lobectomy in drug-resistant temporal lobe epilepsy associated with Sotos syndrome. Frontiers in Neurology, 14. https://doi.org/10.3389/fneur.2023.1126327
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