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

Vollständiger Abstract

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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.