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CASE REPORT article

Front. Pediatr.
Sec. Obstetric and Pediatric Pharmacology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1515304

White Sutton Syndrome and cannabidiol: an update on a reported patient with a successful response to off-label therapy

Provisionally accepted
Lorenzo Perilli Lorenzo Perilli *Samanta Carbone Samanta Carbone Michele Minerva Michele Minerva Margherita Maria Rossi Margherita Maria Rossi Maria Rosaria Curcio Maria Rosaria Curcio Federica Lotti Federica Lotti Salvatore Grosso Salvatore Grosso
  • Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy

The final, formatted version of the article will be published soon.

    White Sutton Syndrome (WSS), associated with POGZ gene mutations, is a rare genetic disorder characterized by a spectrum of phenotypic features, including intellectual disabilities, developmental delays, and epilepsy. A case report described a female patient diagnosed with WSS who experienced seizures resistant to conventional antiseizure medications (ASMs). Despite various therapeutic attempts, including valproate, topiramate, levetiracetam, clobazam, rufinamide and vigabatrin, the patient's seizures persisted. After initiating an off-label treatment with cannabidiol (CBD), the patient achieved complete remission from seizures. Following significant clinical improvement, CBD therapy was discontinued by the parents against medical advice, leading to seizures' recurrence. Upon reinstatement of CBD, the patient once again experienced successful seizure control. This report emphasizes the need for further investigation into the off-label use of CBD, as an adjunctive therapy in paediatric individuals with drug-resistant epilepsy associated with WSS. Although CBD shows promise in other epileptic syndromes, this case highlights its potential effectiveness in this specific condition.

    Keywords: White-Sutton syndrome, Cannabidiol, Epilepsy, off-label, pediatric neurology

    Received: 20 Nov 2024; Accepted: 15 Jan 2025.

    Copyright: © 2025 Perilli, Carbone, Minerva, Rossi, Curcio, Lotti and Grosso. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Lorenzo Perilli, Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.