Abstracts

Rationale: Aicardi Syndrome, first described by Dr. Jean Aicardi, is characterized by the triad of agenesis of the corpus callosum, central chorioretinal lacunae, and infantile spasms (Aicardi J et al, 1965). This rare condition predominantly affects females and genetic etiology is unknown (Kroner BL et al, 2008). Most patients present with infantile spasms within the first few months of life and develop different seizure types that are often refractory to anti-seizure medications (ASMs) (Sutton VR et al 2020).  Ketogenic diet (KD) therapy has established efficacy in the treatment of intractable epilepsy. However, there is limited literature demonstrating use and efficacy in Aicardi Syndrome (Sanchez MAR et al, 2021). Our study aims to identify the role of KD therapy in these patients with a focus on long-term tolerability.

Methods: A retrospective chart review was performed to identify patients with a clinical and radiological diagnosis of Aicardi Syndrome at our institution who have been treated with the KD from 2004-2024. Data collected included patient’s age, duration on KD, seizure control, side effects, concurrent ASMs and surgical therapy, if any.

Results: Ten patients with Aicardi Syndrome treated with KD were identified. The age at diet initiation ranged from 3 to 34 months (14.9 ± 9.5). The average duration on diet therapy was 6.4 years (6.45 ± 6.4). The median age at infantile spasms onset was 3 months (2.7 ± 0.5). At the time of diet initiation, patients had failed an average of 2.9 ASMs. Seizure frequency improved at 3 months of diet therapy and sustained at 1 and 5 years thereafter. Currently, 5 patients remain adherent to the diet, 2 patients are deceased, and 3 patients have discontinued the diet. Vagus Nerve Stimulator (VNS) was placed in 2 patients. Most patients tolerated the diet well despite experiencing common side effects (Newmaster K et al, 2022).

Conclusions: Patients with Aicardi Syndrome and intractable epilepsy treated with KD had significant improvement in seizure burden with good long term tolerability profile. Therefore, KD is an effective and safe intervention in this population and should be considered early in the disease course. Further studies are warranted to evaluate and establish the efficacy of the KD at diagnosis, the effect on electroencephalogram (EEG), and the quality of life in patients with Aicardi Syndrome.  

Funding: NA