# Case Report: White–Sutton syndrome and cannabidiol, an update on a reported patient with a successful response to off--label therapy

**Authors:** Lorenzo Perilli, Samanta Carbone, Michele Minerva, Margherita Maria Rossi, Maria Rosaria Curcio, Federica Lotti, Salvatore Grosso

PMC · DOI: 10.3389/fped.2025.1515304 · Frontiers in Pediatrics · 2025-02-20

## TL;DR

A patient with White–Sutton syndrome showed seizure control with cannabidiol, suggesting it may be a helpful treatment for drug-resistant epilepsy in this rare genetic disorder.

## Contribution

This case report highlights the potential effectiveness of cannabidiol in managing seizures in White–Sutton syndrome.

## Key findings

- The patient achieved complete seizure remission with cannabidiol after failing conventional antiseizure medications.
- Seizures recurred when cannabidiol was discontinued but were controlled again upon its reinstatement.
- The report advocates for further research into cannabidiol as a treatment for drug-resistant epilepsy in White–Sutton syndrome.

## Abstract

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. 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 seizure 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 pediatric 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. This manuscript aims to contribute to the understanding of WSS and advocate for further research into novel treatments, particularly the role of CBD in managing epilepsy within this complex clinical context.

## Linked entities

- **Genes:** POGZ (pogo transposable element derived with ZNF domain) [NCBI Gene 23126]
- **Chemicals:** cannabidiol (PubChem CID 644019), valproate (PubChem CID 3549980), topiramate (PubChem CID 5284627), levetiracetam (PubChem CID 5284583), clobazam (PubChem CID 2789), rufinamide (PubChem CID 129228), vigabatrin (PubChem CID 5665)
- **Diseases:** epilepsy (MONDO:0005027), intellectual disabilities (MONDO:0001071)

## Full-text entities

- **Genes:** POGZ (pogo transposable element derived with ZNF domain) [NCBI Gene 23126] {aka MRD37, WHSUS, ZNF280E, ZNF635, ZNF635m}
- **Diseases:** intellectual disabilities (MESH:D008607), epileptic syndromes (MESH:D000073376), epilepsy (MESH:D004827), seizure (MESH:D012640), developmental delays (MESH:D002658), WSS (OMIM:616364), genetic disorder (MESH:D030342), drug-resistant epilepsy (MESH:D000069279)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

26 references — full list in the complete paper: https://tomesphere.com/paper/PMC11882596/full.md

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Source: https://tomesphere.com/paper/PMC11882596