Authors :
Presenting Author: Anna Winczewska-Wiktor, MD – University of Medical Sciences Poznan Poland
Magdalena Badura - Stronka, MD – Department of Medical Genetics, Poznan University of Medical Genetics – University of Medical Sciences Poznan Poland; małgorzata Braszka, BSc – University College London Medical School; Mia Harada-Laszlo, BSc – University College London Medical School; Maria Mazurkiewicz- Bełdzińska, MD – MEDICAL UNIVERSITY OF GDAŃSK; Marta Zawadzka, MD – MEDICAL UNIVERSITY OF GDAŃSK; Barbara Steinborn, MD – University of Medical Sciences Poznan Poland
Rationale:
This study aims to evaluate the effectiveness of the ketogenic diet (KD) as a treatment in a cohort of pediatric patients with drug resistant DEPDC5-related epilepsy.
Methods:
We followed four pediatric patients with drug resistant DEPDC5-related epilepsy through a KD treatment course. We analyzed the following parameters: past medical history, clinical characteristics of seizure morphology, EEG records pre and post-KD treatment, the results of MRI head and neurological and psychological examinations (pre-treatment and throughout treatment course).
Results:
All patients followed in our study were able to achieve complete seizure control (100% seizure elimination) after commencing KD treatment. Further, one patient involved in the study was able to transition to a KD only treatment regimen. The remaining patients were able to reduce the number of antiseizures drugs (ASDs) to a monotherapy. In all cases we observed improvements in EEG results. Our cohort included one patient whose MRI head showed cortical dysplasia. However, no patients involved in this study demonstrated any neurological signs. Psychological examination showed normal intellectual development in all patients, although behavioral disorders and difficulties at school were observed. The introduction of KD treatment correlated with improvement in school performance and improved behavioral regulation. No clinically significant adverse events were observed.
Conclusions:
KD seems to be both effective and well tolerated in young patients with DEPDC5-related epilepsy, both as a monotherapy and as an adjunct to ASD. We recommend an early adoption of this therapeutic approach in this cohort of patients. Our results demonstrate that the positive effects of KD treatment encompass improvements in general functioning, particularly in the context of school performance and behavior, in addition to the achievement of good seizure control.
Funding: N/A