Evaluation of response and safety of ketogenic diet in patients with infantile epileptic spasms syndrome

*Correspondence: [e-mail].

Abstract

Background: Infantile epileptic spasms syndrome (IESS) is a type of epileptic encephalopathy that typically starts between the 3rd and 12th months of life, with an associated prevalence of 30/100,000 liveborn infants. It is characterized by epileptic spasms, often associated with hypsarrhythmia and neurodevelopmental regression. The ketogenic diet (KD) is a non-pharmacological therapy for refractory epilepsy, based on a high-fat, low-carbohydrate, and adequate-protein diet.

Objective: To evaluate the clinical response of KD in patients diagnosed with refractory IESS who did not respond to high-dose glucocorticoids and vigabatrin.

Methods: A retrospective cross-sectional study involving the analysis of medical records from July to December 2022. The study included patients with IESS who were recommended KD at the Refractory Epilepsy and Ketogenic Diet Outpatient Clinic of a tertiary hospital in Northeast Brazil. Variables analyzed included age at KD initiation, clinical response, pre- and post-KD antiseizure medications, adherence and adverse effects. Descriptive analysis of continuous variables was performed using numerical values, mean and standard deviation (SD). The study was approved by the Local Research Ethics Committee under the number 65145922.1.0000.5042.

Results: Four patients with IESS were evaluated, with spasms onset between 3 and 10 months. All had hypsarrhythmia on electroencephalogram and neurodevelopmental regression. Prior to KD, all patients received treatment with high doses of glucocorticoids and vigabatrin, but with unsatisfactory responses. Two patients had structural abnormalities as etiological factors, while two had genetic syndromes (Aicardi and Down syndromes). All patients had good adherence and no significant adverse effects with classic KD. Mean age at KD initiation was 17.5 months (SD ± 6.8). One patient showed a reduction of more than 75% in seizure frequency, while the other three achieved complete seizure control. In the latter group, the use of anti-seizure medications was reduced during follow-up. All patients showed improvement in neurodevelopment.

Conclusion: KD proved to be a safe, cost-effective and highly effective therapeutic option for patients with refractory epilepsy, including those with IESS, according to the studied sample. The findings of this study support existing literature, highlighting KD as an efficacious and feasible alternative for cases of severe epilepsy refratory to pharmacological treatment.

 

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Artikel online veröffentlicht:
12. Mai 2025