Authors :
Presenting Author: Julia Hunter, BS – Children's Hospital of Orange County
Sarah Pedroza, PA-C – Children's Hospital of Orange County
Jordan Davies, MD – Children's Hospital of Orange County
Maija Steenari, MD – Childrens Hospital of Orange County, CA
Clare Skora, MD – Children's Hospital of Orange County
Donald Phillips, MD, MPH – Children's Hospital of Orange County; UC Irvine School of Medicine
Brian Hanak, MD – Children's Hospital of Orange County
Joffre Oyala, MD – Childrens Hospital of Orange County
Rationale:
Vagus nerve stimulation (VNS) is FDA-approved for patients aged 4 years and older with drug-resistant epilepsy. It has been reported to be safe and effective in patients under 4 years of age, but there is a paucity of reported use in those less than 1 year old. Notably, only one published abstract described the use of VNS in a 6-month-old infant (Zamponi et. Al., 2008). Methods:
We present the case of a 7-month-old male with GABRB3 pathogenic variant and intractable epilepsy who underwent VNS implantation. Pre-operative work-up and post-operative outcomes were reviewed and reported. Results:
7-month-old male, born full term via vaginal delivery, began exhibiting seizure activity at 5 months of age. First scalp EEG demonstrated bifrontal epileptiform discharges and two brief focal seizures from the left frontal region. Despite trials of multiple anti-seizure medications (Levetiracetam, Phenobarbital, Felbamate, Clobazam, and Lacosamide) and initiation of the ketogenic diet, seizures persisted ( >20/day) and were accompanied by developmental regression. His genetic profile was significant for GABRB3 variant and variant of unknown significance in KCNT1. Multidisciplinary epilepsy surgery conference recommended early VNS implantation.
VNS was implanted at 7 months and activated intraoperatively with initial settings titrated over subsequent visits. At 3 months postoperatively, the patient experienced intermittent seizure-free days. Following VNS change to rapid cycling about 1 year post-op, he experienced significant seizure reduction and cognitive improvement. After weaning off all seizure medication at 15 months post-op, he became seizure free. This has continued at most recent follow-up, over 2 years post-op. He is also progressing well in developmental milestones, vocalizing and nearly walking.
Conclusions:
This case illustrates the potential efficacy and tolerability of VNS in an infant under one year of age with drug-resistant epilepsy due to a GABRB3 pathogenic variant. The patient eventually became seizure free after VNS modification to rapid cycling and weaning all seizure medication. Although data remains sparse for this population, both the age and genetic variant, our findings support the consideration of VNS as an early intervention in infants under 1 year of age with medically refractory epilepsy. Ongoing follow-up is critical to evaluate long-term outcomes and optimize patient selection criteria.Funding: None