Case Report: Successful complete open corpus callosotomy for refractory epilepsy in Rett syndrome

Abstract

Background

Rett syndrome (RTT) is a neurodevelopmental disorder that occurs primarily in females and is characterized by rapid regression of acquired skills, including language and purposeful hand movements. Epilepsy affects 50–90 % of RTT patients, with approximately a third of patients having drug resistant epilepsy. Any seizure type can occur in individuals with RTT.

Case presentation

We present here a unique case of a 13-year-old girl with RTT and drug-resistant epileptic spasms and tonic seizures who underwent a complete open corpus callosotomy (CC) to reduce seizure burden. After surgery, she had a significant reduction in seizures, seizure-related hospitalizations, and use of seizure rescue medication, resulting in improved quality of life. Post-operatively, she experienced parkinsonism symptoms, that fully resolved, and may be related to a transient disconnection syndrome.

Discussion/Conclusion

For patients with Rett syndrome with drug-resistant seizures with rapid bi-hemispheric spread, a complete CC can be considered as a treatment option to reduce seizure burden. At present, CC in RTT is not well documented in the literature.