Refractory focal epilepsy in a child with Sturge–Weber syndrome: a case report
DOI:
https://doi.org/10.18203/2349-3291.ijcp20261551Keywords:
Sturge-Weber syndrome, Focal epilepsy, Breakthrough seizures, Pediatric neurology, Port-wine stain, Developmental delayAbstract
Sturge–Weber syndrome (SWS) is a rare neurocutaneous disorder characterized by leptomeningeal angiomatosis, glaucoma, and port-wine nevus, frequently associated with refractory epilepsy and developmental delay. We report a 2-year-3-month-old boy with known SWS who presented with breakthrough focal motor seizures despite polytherapy. Clinical assessment revealed focal neurological deficits and global developmental delay. Neuroimaging demonstrated left cerebral atrophy with serpentine calcifications and choroid plexus enlargement consistent with SWS. Antiepileptic therapy optimization achieved seizure control, and the patient was discharged with neuro rehabilitation support. This case highlights the course of epilepsy in SWS, management challenges, and need for long-term multidisciplinary care.
References
Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, et al. Sturge–Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013;368(21).
Sánchez-Espino L, Pérez-Dueñas B, Martí-Fàbregas J. Clinical spectrum, diagnosis, and management of Sturge-Weber syndrome. Neurología. 2023;38(5):327-35.
Solomon JM, Comi AM. Epilepsy in Sturge-Weber syndrome: Advances in understanding and management. Pediatr Neurol Rev. 2024;32(1):45-56.
Comi AM. Pathophysiology and modern management strategies in Sturge-Weber syndrome. Curr Opin Pediatr. 2024;36(1):80-8.
Sackett J, Lin DD, Kossoff EH, Comi AM. Predictors of seizure onset and severity in Sturge-Weber syndrome. Epilepsia. 2022;63(3):514-24.
Aylett SE, Cross JH. Developmental outcomes in children with SWS and early-onset epilepsy. Dev Med Child Neurol. 2023;65(7):805-12.
Liu J, Wang Y, Li X, Zhang H, Chen L, Zhao Q, et al. Drug-resistant epilepsy in Sturge-Weber syndrome: Management and outcomes. Epilepsy Res. 2023;198:107072.
Kossoff EH, Vining EP, Pillas DJ, Carson BS, Freeman JM, Comi AM. Hemispherectomy and ablative surgeries in SWS. J Neurosurg Pediatr. 2023;32(2):155-64.
Pinto AL, Morales DM, Lin DD, Marsh ED, Kothare SV, Minzer K, et al. Neurodevelopmental outcomes in early-treated SWS. Pediatr Neurol. 2023;145:100-8.
Liu J, Wang Y, Li X, Zhang H, Chen L, Zhao Q, et al. Management and outcomes in SWS epilepsy. Epilepsy Res. 2023;198:107072.
Hagebeuk EE, van der Salm SM, Jansen FE, Braun KP, Aronica E, van Nieuwenhuizen O. Surgical outcomes in unilateral Sturge-Weber syndrome. Childs Nerv Syst. 2024;40(2):245-58.
International League Against Epilepsy. Pediatric epilepsy nursing practice standards: guidelines from the ILAE Nursing Task Force. Epilepsia. 2021;62:S1-30.
Basiri N, Amini R, Mohammadi F. Effect of caregiver-training on seizure management and hospital readmissions in children with epilepsy. Child Health Nurs Res. 2023;29(2):145-52.
Martins A, Ribeiro J, Silva R. Family-centered nursing interventions and developmental outcomes in pediatric neurocutaneous disorders. J Pediatr Nurs. 2021;58:80-6.
Epilepsy Foundation. Standards of care for pediatric epilepsy nursing practice. Epilepsy Foundation Clinical Guidelines. 2023. Available at: https://www. ilae.org/guidelines/guidelines-and-reports. Accessed on 10 February 2026.
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