Early Epilepsy Surgery in a Patient with Infantile Spasms and Focal Seizures, Due to Focal Cortical Dysplasia, and TSC2 Gene Mutation: Considerations about the Impact of Gene Mutation on the Correct Surgical Timing in the Presurgical Evaluation

Introduction: A goal of epilepsy surgery in children is the early approach to avoid the negative impact of the epilepsy on the brain development. More complex and still under study is the management of the surgery for gene-correlate epilepsy.

Methods: We describe a case of infantile spasms and focal seizures, associated with focal cortical dysplasia (FCD), and TSC2 gene mutation. Our aim is to discuss (1) the correct surgical timing and (2) the impact of the genetic analysis on the surgical management of patients with focal epilepsy.

Results: Many per day IS and FS began at age 22 days, after normal pregnancy/delivery. Electroencephalography showed an epileptogenic zone over the right frontotemporal region. Magnetic resonance imaging (MRI) revealed a FCD over the right frontal operculo-insular region. Rapidly a drug-resistant epilepsy and a developmental delay emerged. Genetic analysis showed a TSC2 gene mutation. At 11 months, a surgical tailored resection was done, with seizures freedom. The pathological study confirmed a FCD type IIa. The patient is now a healthy 2 years old child.

Conclusions: In patients with IS and FS showing electroclinical and MRI concordance, the surgical resection should be performed as soon as is possible, especially before the age of 1 year, avoiding the negative impact on the dynamic development of the brain networks. The surgical decision should not be influenced by the genetic result when a clear anatomo-electro-clinical concordance exists, also if it concerns the potentially “dynamic” STC2 mutation.

No conflict of interest has been declared by the author(s).