TEN-YEAR KETOGENIC DIET AS PRIMARY THERAPY IN SCN2A-RELATED DRUG-RESISTANT DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY: LONG-TERM EFFICACY, SAFETY, AND MULTISYSTEM OUTCOMES

Bartosz Wójtowicz; Szymon Skrzypek; Oliwia Żmuda; Jakub Jasionka; Jagoda Niczyporuk; Patrycja Okoń; Jan Lejman; Magdalena  Chrościńska- Krawczyk

doi:10.31435/ijitss.3(51).2026.6479

Authors

Bartosz Wójtowicz Student Scientific Club of Pediatric Neurology, Medical University of Lublin, Poland https://orcid.org/0000-0002-7396-9117
Szymon Skrzypek Student Scientific Club of Pediatric Neurology, Medical University of Lublin, Poland https://orcid.org/0009-0009-9174-7786
Oliwia Żmuda Student Scientific Club of Pediatric Neurology, Medical University of Lublin, Poland https://orcid.org/0009-0005-0415-786X
Jakub Jasionka Student Scientific Club of Pediatric Neurology, Medical University of Lublin, Poland https://orcid.org/0009-0003-7359-5199
Jagoda Niczyporuk Student Scientific Club of Pediatric Neurology, Medical University of Lublin, Poland https://orcid.org/0009-0003-2035-5650
Patrycja Okoń Student Scientific Club of Pediatric Neurology, Medical University of Lublin, Poland https://orcid.org/0009-0007-0988-5465
Jan Lejman Department of Child Neurology, Medical University of Lublin, Chodzki 2, 20-093 Lublin, Poland https://orcid.org/0000-0002-8065-2839
Magdalena Chrościńska- Krawczyk Department of Child Neurology, Medical University of Lublin, Chodzki 2, 20-093 Lublin, Poland https://orcid.org/0000-0001-8121-6580

DOI:

https://doi.org/10.31435/ijitss.3(51).2026.6479

Keywords:

SCN2A; Ketogenic Diet; Developmental and Epileptic Encephalopathy; Drug-Resistant Epilepsy; Long-Term Follow-Up; Pediatric Neurology

Abstract

Objective: This case study reports a decade-long (2016–2026) follow-up of a girl with gene-confirmed SCN2A-related developmental and epileptic encephalopathy (DEE) in whom the ketogenic diet (KD) was used as primary therapy after failure of eight sequential antiseizure regimens.

Methods: Retrospective analysis of hospital records (2013–2026) covering perinatal history, genetic diagnosis, drug therapy, dietary protocol modifications, and serial laboratory, imaging, and electrophysiological surveillance.

Results: Classic KD initiated at age 2 years 9 months produced rapid seizure reduction (>50%), enabling complete withdrawal of all conventional ASMs by February 2017. The diet was maintained continuously for over 10 years, including through emergency craniotomy for traumatic intracranial hemorrhage in April 2018. Adjunctive CBD/THC oil was used from 2017, with a transient valproate retrial in December 2022. Multisystem complications (hypercalciuria, lumbar osteopenia with BMD Z-score −2.7, transient dyslipidemia) were managed with potassium citrate, vitamin D3/calcium supplementation, and dietary ratio adjustments; no nephrolithiasis or KD-attributable cardiac complications occurred. Growth remained within normal range without gastrostomy.

Conclusions: Long-term KD as primary non-pharmacological therapy is feasible and safe in SCN2A-related DEE, permitting complete ASM cessation, provided multidisciplinary metabolic and bone surveillance is maintained.

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