Neurological function and drug-refractory epilepsy in Sturge-Weber syndrome children: a retrospective analysis

• Published in: European journal of pediatrics 2024-04, Vol.183 (4), p.1881-1890
• Main Authors: Zhang, Yu, Niu, Jiechao, Wang, Jiandong, Cai, Aojie, Wang, Yao, Wei, Guangshuai, Wang, Huaili
• Format: Article
• Language: English
• Subjects: Child; Child, Preschool; Children; Convulsions & seizures; Drug Resistant Epilepsy - complications; Drug Resistant Epilepsy - etiology; Epilepsy; Epilepsy - complications; Epilepsy - etiology; Female; Humans; Infant; Male; Medicine; Medicine & Public Health; Pediatrics; Retrospective Studies; Risk factors; Seizures; Seizures - etiology; Status Epilepticus - complications; Stroke; Stroke - complications; Stroke-like episodes; Sturge-Weber Syndrome - complications; Sturge-Weber Syndrome - epidemiology
• ISSN: 1432-1076; 0340-6199; 1432-1076
• DOI: 10.1007/s00431-024-05448-z

Epilepsy in Sturge-Weber syndrome (SWS) is common, but drug-refractory epilepsy (DRE) in SWS has rarely been studied in children. We investigated the characteristics of epilepsy and risk factors for DRE in children with SWS. A retrospective study was conducted to analyze the clinical characteristics of children with SWS with epilepsy in our hospital from January 2013 to October 2022. Univariate and multivariate logistic analyses were performed to investigate the factors influencing DRE in children with SWS. A total of 35 SWS children with epilepsy were included (51% male; mean age of presentation 3.6 ± 0.5 years), 71% of children with SWS had their first seizure within the first year of life, and the most common type of seizure was focal seizure (77%). Eleven (31%) patients developed DRE. The median age of onset for the first seizure was 1.0 years and all these cases were of SWS type I. Multivariate logistic analysis revealed that stroke-like episodes and seizure clusters were risk factors for DRE in SWS children. A poor neurological function group was observed in twenty-five children with SWS. Status epilepticus was a risk factor that affected the neurological function of SWS children with epilepsy.   Conclusion : The study explored the epileptic features of children with SWS. The results revealed that stroke-like episodes and seizure clusters are risk factors for DRE in children with SWS. The occurrence of status epilepticus impacts the neurological function of SWS children with epilepsy. Thus, long-term follow-up is necessary to monitor outcomes. Graphical Abstract What is Known: • Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder, over 75% of children with SWS experience seizures, and 30–57% develop drug-refractory epilepsy (DRE), which leads to a poor outcome. • Drug-refractory epilepsy in SWS has been rarely studied in children, and the risk factors associated with DRE are unclear. What is New: • Clinical features of SWS children with drug-refractory epilepsy. • In SWS, stroke-like episodes and seizure clusters are risk factors of DRE, the occurrence of status epilepticus impacts the neurological function.