{
  "abstract": "Background and Importance Aicardi syndrome is a rare neurodevelopmental disorder characterised by agenesis of the corpus callosum, chorioretinal lacunae, and seizures. No treatments are approved specifically for this condition, and seizure control is complex. Drug-resistant epilepsy carries high morbidity and mortality, with few effective interventions once standard therapies fail.Aim and Objectives To describe the clinical evolution of a paediatric patient with Aicardi syndrome and drug-resistant epilepsy, and the impact of cannabidiol and fenfluramine treatment supported by hospital pharmacy intervention. The patient, a female diagnosed at 2 months of age, presented with epileptic seizures unresponsive to multiple anti-seizure medications and dietary therapies.Material and Methods From 2010-2024, the patient underwent sequential treatment with lamotrigine, valproic acid, vigabatrin, levetiracetam, primidone, ketogenic diet, rufinamide, topiramate, zonisamide, perampanel, and hydrocortisone, with insufficient seizure control. Hospital pharmacy prepared evidence-based reports to justify the off-label use of cannabidiol (Epidyolex ) and fenfluramine, based on literature in severe epileptic syndromes and clinical need. Dosing was titrated under multidisciplinary follow-up, with seizure frequency, intensity, and tolerability assessed during routine visits.Results Cannabidiol initiation (December 2022) achieved marked reduction in tonic–clonic seizures, with sustained partial benefit over 2 years. Persistent reflex seizures prompted dose optimisation and withdrawal of perampanel. Fenfluramine was introduced in 2024 but discontinued after 10 months due to lack of clinical benefit. Cenobamate was also trialled without improvement. No severe adverse effects were observed with cannabidiol or fenfluramine.Conclusion and Relevance Cannabidiol provided substantial early seizure reduction with sustained partial benefit over more than 2.5 years of continuous treatment – a follow-up period exceeding that reported in the published literature for Aicardi syndrome and most other epileptic encephalopathies. This long-term observation highlights both the potential durability of cannabidiol’s effect and the need for systematic studies beyond 48 weeks. Fenfluramine use in Aicardi syndrome, with no robust evidence base, was ineffective in our patient. Similarly, cenobamate lacks supporting data in this population and did not improve seizure control. This case underlines the critical role of hospital pharmacy in bridging evidence gaps, enabling access to novel therapies, and ensuring rigorous monitoring in highly refractory contexts. Continuous reassessment and long-term data collection are essential to advance the therapeutic landscape for rare epilepsies.Conflict of Interest No conflict of interest",
  "authors": [
    {
      "affiliations": [
        "Hospital Universitario De Móstoles, Farmacia Hospitalaria, Móstoles, Spain"
      ],
      "name": "D Garcia Martinez"
    },
    {
      "affiliations": [
        "Hospital Universitario De Móstoles, Farmacia Hospitalaria, Móstoles, Spain"
      ],
      "name": "C Calderon-Acedos"
    },
    {
      "affiliations": [
        "Hospital Universitario De Móstoles, Farmacia Hospitalaria, Móstoles, Spain"
      ],
      "name": "L Corrales-Perez"
    },
    {
      "affiliations": [
        "Hospital Universitario De Móstoles, Farmacia Hospitalaria, Móstoles, Spain"
      ],
      "name": "A Gonzalez-Fuentes"
    },
    {
      "affiliations": [
        "Hospital Universitario De Móstoles, Farmacia Hospitalaria, Móstoles, Spain"
      ],
      "name": "L Fernandez-Valencia"
    },
    {
      "affiliations": [
        "Hospital Universitario De Móstoles, Farmacia Hospitalaria, Móstoles, Spain"
      ],
      "name": "M Carrera-Sanchez"
    },
    {
      "affiliations": [
        "Hospital Universitario De Móstoles, Farmacia Hospitalaria, Móstoles, Spain"
      ],
      "name": "M Andrino-Rodriguez"
    },
    {
      "affiliations": [
        "Hospital Universitario De Móstoles, Farmacia Hospitalaria, Móstoles, Spain"
      ],
      "name": "P Vega-Gonzalez"
    },
    {
      "affiliations": [
        "Hospital Universitario De Móstoles, Farmacia Hospitalaria, Móstoles, Spain"
      ],
      "name": "S De-Miguel-Ruiz"
    },
    {
      "affiliations": [
        "Hospital Universitario De Móstoles, Farmacia Hospitalaria, Móstoles, Spain"
      ],
      "name": "A Martinez-Ferrero"
    },
    {
      "affiliations": [
        "Hospital Universitario De Móstoles, Farmacia Hospitalaria, Móstoles, Spain"
      ],
      "name": "M Segura-Bedmar"
    }
  ],
  "title": "5PSQ-015 When seizures persist: exploring novel therapeutic options in aicardi syndrome – case report",
  "uid": "e735ee4a-9ffd-50bb-84f4-34445a0562a6"
}